British Myology SocietyEighth AnnualMeeting

6th – 7th September 2016Wolfson College, Oxford

Registered Charity No. 1142966

1

Contents

Welcome from the BMS Organising Council 2

Professional Academic Sponsor 5

Professional and Patient Organisation Partners 6

Meeting Programme 7

Council and Delegates List 10

Rules of the BMS 13

Current UK Neuromuscular Clinical Trials 16

Future Meetings 40

UK Databases and Registries 40

Appendix 1: Minutes of Previous AGMs 41

Appendix 2: Minutes of Previous Council Meetings 50

Industry Sponsors 75

BMS Secretariat 77

CPD Accreditation 77

2

Welcome from the British Myology Society Council

Dear Member,

We are delighted to welcome you to this eighth annual meeting of the British Myology

Society at Wolfson College in Oxford.

This year the council have again devised a programme which continues to build on the

themes covered in the first seven meetings and includes a consideration of introducing

new therapies into clinical practice, the use of big data to benefit practice, case based

discussions of difficult and challenging cases and a state of the art review session on

inflammatory muscle disease. There are also important opportunities to network built

into the programme including the ever popular gala dinner.

In addition to the BMS Annual meeting, this year the BMS is pleased to introduce itssecond ‘UK Clinicians Adult Muscle Teaching Day’, taking place on 6th September.Previous adult and paediatric muscle teaching days have proved very popular and areentirely in line with one of the key aims of the BMS to promote education and trainingin muscle disease practice. Once again Council have managed to achieve sponsorshipwhich allows the training day to be free to 30 trainees and in addition we are able tooffer 10 travel scholarships.

Clinical practice in muscle disease continues to evolve rapidly thanks to geneticdiscoveries and advances in translation into therapies. We are entering an excitingphase in the evolution of muscle disease practice with new therapies now starting toemerge and with increasing interest from industry partners in helping us solve andtreat muscle diseases. The BMS in an increasingly important professional body whichlinks and network consultant and multidisciplinary senior colleagues from across thecountry.

We hope you have an enjoyable, stimulating and useful time at this year’s annual BMS

meeting in Oxford!

The 2016 organising committee:

Michael Hanna (chair)

Simon Hammans

David Hilton-Jones

Janice Holton

Francesco Muntoni

Ros Quinlivan

Helen Roper

Michael Rose

Kate Bushby

3

The History of the British Myology Society

The object of the BMS is to act as an independent multidisciplinary professional body of

experts to promote the clinical practice, education and advancement of knowledge

relating to muscle diseases, myasthenia gravis and spinal muscular atrophy in the

British Isles and Ireland. The BMS was established in London in April 2008 and holds

registered charitable status (number 1142966). Professor Michael Hanna is the

founding chairman. The Society’s rules can be found later on within this brochure.

The specific aims of the BMS include:

Agreeing best practice and standards of care for clinical and diagnostic pathologyservices

Agreeing standards for training in clinical myology and clinical muscle pathology Promoting translational research Establishing clinical networks to improve standards of care and promote

registries and clinical trials. Facilitating collaborations with patient organisations Providing a forum to improve recognition of rare conditions or their

complications

A summary of previous BMS meetings:

Seventh Annual Meeting: 10th & 11th September 2015, Worcester College,

Oxford.

Key themes:

Latest updates on clinical trials and relevance to current clinical practice Updates on latest diagnostics including next generation sequencing and practice Debates including when to do muscle biopsy Discussion of complex muscle cases Latest news on commissioning landscape and ‘Bridging the Gap’ project

Sixth Annual Meeting: 11 & 12th September 2014, Wolfson College, Oxford.

Key themes:

Latest developments in rehabilitation technologies Updates on muscle channelopathies, congenital myasthenic syndromes,

myofibrillar myopathies, mitochondrial disease, OPMD, Duchenne musculardystrophy and DM2

Discussion of complex cases Latest news on ‘Bridging the Gap’

Fifth Annual Meeting: 18th & 19th September 2013, Worcester College, Oxford.

Key themes:

Commissioning neuromuscular services in the UK Myotonic Dystrophy

Congenital Myopathy

Muscle Interest Group difficult cases

Invited speakers included Professor Charles Thornton, University of Rochester, USA

4

Fourth Annual Meeting: 4th & 5th of September 2012, St Anne’s College,

Oxford.

Key themes: Commissioning neuromuscular services in the UK Duchenne

Pathology services

Rhabdomyolosis

Muscle Interest Group difficult cases

Third Annual Meeting: 6th & 7th of September 2011, St Anne’s College, Oxford.

Key themes: Commissioning neuromuscular services in the UK Registries and Databases

Patient Organisations

Myasthenia

Muscle Interest group difficult cases

Invited speakers were Dr Mike Hubank – UCL genetics and Professor Alan Emery.

Second Annual Meeting: 2nd & 3rd September 2010 at St. Anne’s College,

Oxford.

Key themes:

Commissioning neuromuscular services in the UK Planning muscle pathology services Developing networks for clinical practice and clinical trials Update on UK neuromuscular workshops and clinical trials Interesting-difficult cases supported by the NCG servicesInvited guest speaker: Professor Marianne de Visser

First annual meeting: 2nd & 3rd July 2009, St Anne's College, Oxford.Key themes: Commissioning neuromuscular services in Great Britain and Ireland Planning muscle pathology services for the UK and Ireland Update on current neuromuscular NCG services including NCG support to

diagnose difficult cases Update from UK neuromuscular workshops (including IBM, MG) 2008 Developing clinical networks/clinical trialsWe were delighted that Professor Robert C Griggs, President of the American Academyof Neurology appeared as our guest speaker, and provided insights into his longexperience of running the North American Muscle Study Group.

Running the BMS

At present the secretariat for the BMS is located at and sponsored by the MRC Centre

for Neuromuscular Diseases in London as per an agreement made at the 2010 AGM.

5

Professional Academic Sponsor

The Secretariat for the BMS has been provided by the MRC Centre for Neuromuscular

Diseases.

About the MRC Centre for Neuromuscular Diseases

Genetic and acquired neuromuscular diseases represent an important cause of

mortality and morbidity in children and adults. In the UK there is a large gap between

major science discoveries and patient benefit in these important disorders. This gap is

larger in the UK than in other countries such as Germany, France and the USA who

have already moved forward with translational research initiatives. The MRC Centre

was established in 2008 and has been successfully renewed by the MRC until 2018 - it

aims remain to reduce this gap by establishing a multidisciplinary translational

research activity in these disabling diseases.

This is a joint centre between the UCL Institute of Neurology and the UCL Institute of

Child Health, London and Newcastle University. The Centre is building on long-

established UCL-Newcastle research and clinical links. The centre is committed to

form reciprocal clinical and research links with other neuromuscular research

groups and patient organisations throughout the UK.

Our mission is to translate basic science findings into clinical trials and new treatments

for children and adults with disabling neuromuscular diseases. Current world-class

science programmes in London, Oxford and Newcastle attracting in excess of £20m of

grant income underpins the activities of the Centre. The Centre aims to develop new

cross-cutting collaborations. We have identified five key areas which we consider to be

current obstacles to effective translation of basic science findings into patient benefit.

These are: clinical trials support/networks, MRC Biobank to increase availability of

patient tissues and cells for preclinical science, assessing animal models, applying MRI

to humans and animals and dedicated clinical and non-clinical PhD programmes to

developing a cadre of highly trained scientists and clinician scientists for future nm

disease research.

6

Professional and Patient Organisation Partners

7

Eighth Annual Meeting of the British Myology SocietyTuesday 6th and Weds 7th September 2016Wolfson CollegeLinton RdOxford OX2 6UD

PROGRAMME

Tuesday 6th September

16:30 - 17:00 Registration and Tea

17:00 - 17:15 Welcome and introductionProfessor Michael Hanna, Director, UCL Institute of Neurology andMRC Centre for Neuromuscular Diseases

Session 1 New drugs for NM diseasesChair: Professor Michael Hanna

17:15 - 17:35 The current UK framework in the context of rare diseasesEdmund Jessop, Public health adviser, Highly specialisedcommissioning team, NHS England

17:35 - 17:55 The charity perspective – MDUK approachRobert Meadowcroft, Chief Executive, Muscular Dystrophy UK

17.55 - 18.40 Debate – Translarna – A clinical, emotional, and financial challengeFor: Dr Ros Quinlivan, UCL IONAgainst: Dr Stefan Spinty, Alder Hey Children’s Hospital

18:40 - 18:50 Short refreshment break

18:50 - 19:30 AGM

Agenda

1. Minutes of previous AGM

2. Accounts

3. Secretariat

4. Rules of the Society

5. Council Membership

6. BMS Annual Meeting 2017

20:00 Dinner at Wolfson CollegeAfter dinner speaker: Dr Wojtek Rakowicz, Hampshire Hospitals

NHS Foundation Trust & University Hospital Southampton NHS

Foundation Trust

22:00 Cash bar

8

Wednesday 7th September

Session 3 Inflammatory MyopathiesChair: Dr David Hilton-Jones

08:30 - 09:00 Juvenile dermatomyositis: one entity or many?Professor Lucy Wedderburn, UCL ICH

09:00 - 09:30 IIM – the neuropathological perspectiveProf Werner Stenzel, Dept of Neuropathology, Charité Hospital,Berlin

09:30 - 10:00 IIM – the immunological perspectiveDr Zoe Betteridge, University of Bath

10:00 - 10:30 Coffee

10:30 - 11:00 IIM in adults – a clinical approach to diagnosis andmanagementDr James Miller, Newcastle upon Tyne Hospitals NHS FoundationTrust

Session 2 Making Big Data useful in clinical practice - NIHR TRC andGeCiPChair: Dr Simon Hammans

11:00 - 11:30 RDTRC / NIHR / Openclinica updateProfessor Patrick Chinnery, Co-chair NIHR Rare DiseaseTranslational Research Collaboration

11:30 - 12:00 GeCip / GEL updateProfessor Henry Houlden, Professor of Neurology andNeurogenetics, UCL ION

12:00 - 12:30 Next generation sequencing in clinical practiceDr Nicki Foulds, Consultant and Honorary Senior Lecturer Clinical

Genetics, Wessex Clinical Genetics Services

12:30 - 13:40 Lunch

Session 4 Muscle Interest Group SessionChair: Dr Helen Roper, Birmingham Heartlands Hospital

13:40 - 15:10 MIG case discussions

15:10 - 15:40 Coffee

15:40 - 16:40 Clinicopathological conference (CPC)

16:40 Close

9

CPD: This event is registered with the RCP as the '8th Annual British Myology SocietyMeeting' and has been approved for 7 CPD credits, code 107218BMS registered charity no 1142966

10

BMS Council Members 2016

Kate Bushby Newcastle University kate.bushby@newcastle.ac.uk

Simon Hammans University Hospital,Southampton

simon.hammans@uhs.nhs.uk

Michael Hanna Institute of Neurology,UCL

m.hanna@ucl.ac.uk

David Hilton-Jones John Radcliffe Hospital,University of Oxford

david.hilton-jones@ndcn.ox.ac.uk

Janice Holton Institute of Neurology,UCL

janice.holton@ucl.ac.uk

Francesco Muntoni Institute of ChildHealth, UCL

f.muntoni@ucl.ac.uk

Vacant position

Ros Quinlivan University CollegeLondon Hospital, NHNN

r.quinlivan@ucl.ac.uk

Helen Roper Heartlands Hospital helen.roper@heartofengland.nhs.uk

Michael Rose King’s College Hospital m.r.rose@kcl.ac.uk

Vacant position

BMS Delegates 2016 (at time of going to print)

Rita Barresi Rita.barresi@ncl.ac.uk Newcastle Hospitals NHSTrust

Peter Baxter p.s.baxter@sheffield.ac.uk Sheffield Childrens Hospital

David Beeson David.beeson@ndcn.ox.ac.uk Oxford University

Zoe Betteridge Z.E.Betteridge@bath.ac.uk University of Bath

Stefen Brady stefen.brady@nbt.nhs.uk Southmead Hospital

Georgina Burke Georgina.Burke@uhs.nhs.uk Wessex NeurologicalCentre

Anne-Marie

Childs Anne-marie.childs@nhs.net Leeds teaching Hospitals

Patrick Chinnery pfc25@medschl.cam.ac.uk University of Cambridge

Liz Curtis Elizabeth.curtis@uhb.nhs.uk Queen Elizabeth Hospital,Birmingham

Max Damian msdd2@cam.ac.uk University Hospitals ofLeicester

Joana Domingos j.domingos@ucl.ac.uk UCL Institute of ChildHealth

11

Doreen Fialho Doreen.fialho@nhs.net MRC Centre forNeuromuscular Diseases,NHNN

Nicola Foulds Nicola.Foulds@uhs.nhs.uk Wessex Clinical GeneticsServices

Vasantha Gowda Vasantha.Gowda@gstt.nhs.uk Guys and St Thomas NHSFoundation Trust

Lynne Groves lynne@nmcentre.com

Nick Gutowski N.J.Gutowski@exeter.ac.uk Royal Devon and ExeterHospital

Simon Hammans Simon.Hammans@uhs.nhs.uk University HospitalsSouthampton

Michael Hanna m.hanna@ucl.ac.uk UCL IONDavid Hilton-Jones david.hilton-

jones@ndcn.ox.ac.ukNCDN Oxford

Monika Hofer Monika.hofer@ouh.nhs.uk John Radcliffe Hospital,Oxford

Janice Holton janice.holton@ucl.ac.uk UCL ION

Henry Houlden h.houlden@ucl.ac.uk UCL ION

Liz Househam Elizabeth.househam@nhs.net Plymouth Hospitals NHSTrust

Edmund Jessop edmund.jessop@nhs.net NHS England

Annamaria Kiss-Csenki Annamaria.kiss-csenki@uhs.nhs.uk

University HospitalSouthampton NHSFoundation Trust

Richa Kulshrestha Richa.Kulshrestha@rjah.nhs.uk

RJAH, Oswestry

James Lilleker James.lilleker@manchester.ac.uk

Salford Royal NHSFoundation Trust

Anirban Majumdar amajumdar@nhs.net Bristol Children’s Hospital

Adnan Manzur Adnan.manzur@gosh.nhs.uk GOSH

Chiara MariniBettolo

chiara.marini-bettolo@ncl.ac.uk

The John Walton MuscularDystrophy ResearchCentre,Newcastle upon TyneHospitalsTrust, Newcastle University

Ellie Marsh doctorellie@hotmail.com not given

Emma Matthews emma.matthews@ucl.ac.uk UCL ION

Robert Meadowcroft R.Meadowcroft@musculardystrophyuk.org

MDUK

James Miller James.Miller@nuth.nhs.uk Newcastle Upon TyneHospitals

Jasper Morrow j.morrow@ucl.ac.uk National Hospital forNeurology andNeurosurgery

Francesco Muntoni f.muntoni@ucl.ac.uk UCL Institute of ChildHealth

12

Christine Oldfield christine.oldfield@ucl.ac.uk UCL ION

Richard Orrell r.orrell@ucl.ac.uk UCL Institute of Neurology,Royal Free Hospital

Matt Parton Matt.parton@uclh.nhs.uk Queen Square CNMD,NHNN

Rahul Phadke r.phadke@ucl.ac.uk Consultant, NHNN, UCLInstitute of Neurology

Ros Quinlivan r.quinlivan@ucl.ac.uk UCL ION

Wojtek wojtek.rakowicz@nhs.net Hampshire Hospitals NHSFoundation trust

Helen Roper helen.roper@heartofengland.nhs.uk

Heart of England NHSFoundation Trust

Anna Sarkozy Anna.Sarkozy@gosh.nhs.uk GOSH

Saam Sedehizadeh Saam.sedehizadeh@nhs.net Nottingham UniversityHospitals NHS Trust

Caroline Sewry c.sewry@nhs.net GOSH

Stefan Spinty Stefan.Spinty@alderhey.nhs.uk

Alder Hey Children'sHospital

Werner Stenzl werner.stenzel@charite.de Charite Hospital Berlin

Chris Turner chris.turner@uclh.nhs.uk UCLH NHNN

Henrietta Van Ruiten henriette.van-ruiten@ncl.ac.uk

Great North Children’sHospital

Lucy Wedderburn l.wedderburn@ucl.ac.uk UCL Institute of ChildHealth

Elizabeth Wraige elizabeth.wraige@gstt.nhs.uk Guys and St Thomas NHSFoundation Trust

13

Rules of the British Myology Society

Name1. The Society shall be called the British Myology Society.

Object2. The object of the Society is to act as a multidisciplinary professional body of expertsto promote the clinical practice, education and advancement of knowledge aboutmuscle disease, myasthenia gravis and spinal muscular atrophy in the British Isles.This will include: Agreeing best practice and standards of care for patients with muscle disease Agreeing standards for training in clinical myology and clinical muscle pathology Promoting translational research Establishing clinical networks to facilitate and promote clinical trials and patient

registries Facilitating collaborations with patient organizations

Membership3. The Society shall consist of Ordinary, Associate and Honorary Members.

4. Those appointed to consultant posts, or senior lectureships or equivalent, in theneurological sciences, genetics, paediatrics, physiotherapy, nursing andneurorehabilitation who undertake specialised muscle clinics or pathologicalexamination of biopsy material from muscle shall be eligible for Ordinary Membership.

5. Persons of distinction in Medicine or related paramedical disciplines who havecontributed to the advancement of muscle disease shall be eligible for the HonoraryMembership. Foreigners of similar distinction shall be eligible for the Honorary ForeignMembership. The number of Honorary Members shall be limited to 10 and of HonoraryForeign Members to 10; they shall be elected by the Society on the recommendation ofthe Council.

6. All specialist registrars and others pursuing clinical practice or research in muscledisease within the British Isles or the Republic of Ireland shall be eligible for AssociateMembership. On appointment to substantive consultant or senior lecturer posts,Associate Members will automatically become Ordinary Members at the next AnnualGeneral Meeting.

8. Ordinary members on reaching the age of 65 or on prior retirement from paidemployment, shall cease to be Ordinary Members at the next Annual General Meeting,and may become Senior Members, enjoying benefit of membership without payment ofsubscription.

9. Candidates for Ordinary, Membership shall be nominated by at least one member ofthe Association in writing to the Honorary Secretary (including email) by the time ofthe last Council Meeting prior to the Annual General Meeting.

10. The Council shall approve candidates from those nominated as Ordinary orHonorary Members.

14

Subscription11. The annual subscription shall be decided by Council on a yearly basis in the light of

the financial situation of the Society and after taking advice from the Treasurer. The

subscription shall then be ratified at the next Annual General Meeting of the

Association. It shall be paid by Deed of Covenant, or Direct Debit, or Banker's Order.

12. Non-payment of the subscription within twelve months may be considered byCouncil as equivalent to resignation.

Officers and Councillors13. The Council shall consist of the Chairman, Honorary Secretary, Honorary Treasurer,and seven council members. All members of Council shall be Ordinary Members of theSociety. Officers of the Society shall be elected at the Annual General Meeting. Thechairman shall be responsible for organizing a suitable secretariat.

14. Council may co-opt others, without voting rights, to attend its meetings andworking groups.

15. A quorum of four voting members will be necessary for decisions made by Councilto be valid.

16. The Councillors shall hold office for five years following which there will be re-election or renewal for a second term if agreed by council members. In order to avoid acomplete change of council members at once a staggered re-election of councilmembers will be agreed by Council.

17. If an Officer or Councillor of the Society be unable to continue in office for anyreason the Council shall have the power to nominate a successor to hold office until thenext Annual General Meeting.

Meetings and the Annual General Meeting18. At least one and usually two or more meetings shall be held each year, one ofwhich shall include the Annual General Meeting. Associate members shall be entitled toattend these meetings and the Annual General business meetings of the Association asnon-voting members.

19. At least two months prior to the meetings the Honorary Assistant Secretary shallsend a notice to each member and shall invite communications to be presented at thescientific meetings.

20. At each clinical meeting time there will be time available for members to discussmanagement and research issues of general interest to the Society. The agenda forthese items will be decided by the Council and will generally focus on the main aims ofthe Society across all muscle diseases.

21. The programme for the Meetings of the Society will be organised by the localorganiser in discussion with the Honorary Secretary and Chairman.

22. The programme for each clinical meeting shall be sent by the Honorary Secretaryto each member of the Society at least one week before the meeting is held.

15

23. The agenda for the Annual General Meeting of the Association shall be sent toOrdinary and Honorary Members by the Honorary Secretary at least one week beforethe meeting is held.

24. A majority vote of those members present will be required to ratify decisions at theAnnual General Meeting.

Other Rules24. No alteration shall be made in the rules except at the Annual General Meeting andunless proposed by the Council or by at least ten members in writing. In the lattercase, the proposal must reach the Secretary at least four weeks before the date of themeeting. Notice of the proposed change shall be circulated to each member at leastone week before the meeting at which it is to be brought forward, and it shall bedecided by vote of those present at the meeting.

25. The income and property of the Society, whencesoever derived, shall be appliedsolely towards the promotion of the objects of the Society as set forth in the Rules, andno portion thereof shall be paid or transferred directly or indirectly, by way of dividendor otherwise howsoever by way of profit to members of the Society. Provided thatnothing herein shall prevent the payment, in good faith, of reasonable and properremuneration to any officer or servant of the Society, or to any member of the Society,in return for any services rendered to the Society.

26. If upon the winding up or dissolution of the Society there remains, after thesatisfaction of all its debts and liabilities, any property whatsoever, the same shall notbe paid or distributed among the members of the Society, but shall be given ortransferred to some other institution having objects similar to the objects of theSociety, and which shall prohibit the distribution of its or their income and propertyamong its or their members to an extent at least as great as is imposed on the Societyunder or by virtue of the last preceding Rule, such institution or institutions to bedetermined by the members of the Society at or before the time of dissolution, and ifand so far as effect cannot be given to such provisions, then to some charitable object.

27. The Association shall be independent and its views shall not be compromised as aconsequence of its relationships with commercial sponsors or any other organization.

16

Current UK Neuromuscular Clinical Trials

MRC Centre CTIMPs Set-up Phase trials

1. Mesoangioblast-mediated exon 51 skipping, based upon a single intra-muscular injection of five non ambulant DMD patients: a non-randomized,open label, phase I/IIa studyStatus: Set-up phaseSponsor: University of ManchesterFunder: The Wellcome TrustCI: Dr. Imelda HughesPI: Prof. Giulio Cossu

2. Multicentre, open-lable, single arm study to evaluate long-term safetytolerability , and effectivelness of 10 mg/kg Olesoxime in patients with SMAStatus: Set-up phaseSponsor/Funder: F. Hoffmann-La Roche LtdPI: Dr Ros QuinlivanTarget: 1-2

3. SIDEROSA phase III double-blind, randomised, placebo-Controlled study assessing theefficacy, safety and tolerability of Idebenone in patients with DuchenneMuscular Dystrophy receiving glucocorticoid SteroidsStatus: Set-up phaseSponsor/Funder: Santhera Pharmaceuticals (Switzerland) LimitedPI: Dr Ros Quinlivan

4. A phase IIb/III of Arimoclomol in IBMStatus: Set-up phasePlanned start date: December 2016Sponsor: UCLFunder: FDA/HeFce-HEIFPI: Professor Michael HannaRecruitment target: 150 (distributed across no more than 11 sites in 2 countries)

5. A Phase 3b Open-label Extension Study to Evaluate the Safety andEfficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patientswith GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)Status: Set-up phaseSponsor: UltragenyxCI/PI: Professor Hanns Lochmuller

6. A Phase III Double-blind, Randomized, Placebo-Controlled Studyassessing the Efficacy, Safety and Tolerability of Idebenone in Patients withDuchenne Muscular Dystrophy Receiving Glucocorticoid steroidsStatus: Set-up phaseSponsor: Santhera PharmaceuticalsPI: Dr Michela Guglieri

7. A phase 3 randomized, multicenter, multinational, double-blinded studycomparing the efficacy and safety of repeated biweekly infusions of neoGAA

17

(GZ402666) and alglucosidase alfa in treatment-naïve patients with late onsetPompe diseaseStatus: Set-up phaseSponsor: Sanofi GenzymeCI/PI: Professor Volker StraubTarget: 0-1

8. Randomised, double blind, placebo controlled, multicentre study toevaluate the efficacy and safety of givinostat in ambulant patients withDuchenne Muscular DystrophyStatus: Set-up phaseSponsor: ItalfarmacoPI: Dr Michela Guglieri

9. An Open-label Extension Study for Patients with Spinal MuscularAtrophy who Previously Participated in Investigational Studies of ISIS 396443Status: Set-up phaseSponsor: ISIS PharmaceuticalsNewcastle PI: Professor Volker StraubRecruitment Target 2-4London PI: Professor MuntoniRecruitment Target 2-4

10. A two part seamless multi-center randomized placebo controlled studyto investigate the safety, tolerability, pharmacokinetics, pharmacodynamicsand efficacy of RO7034067 in type 2 and 3 spinal muscular atrophy patientsStatus: Set-up phaseSponsor: RocheCI/PI: Professor Hanns Lochmuller

11. A Double-Blind, Placebo-Controlled, Multi-Center Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients with Duchenne Muscular DystrophyStatus: Set-up phaseSponsor: Sarepta TherapeuticsPI: Professor Volker Straub

12. A two-part seamless, multicentre, randomised, placebo-controlleddouble-blind study to investigate the safety tolerability, pharmacokinetics,pharmacodynamics and efficacy of RO7034067 in type 2 and 3 SpinalMuscular AtrophyStatus: Set-up phaseSponsor: F. Hoffmann – La Roche LtdPlanned start date (if set-up phase): SeptemberPI: Prof MuntoniRecruitment target: 6-8

13. A two-part seamless, multicentre, randomised, placebo-controlleddouble-blind study to investigate the safety tolerability, pharmacokinetics,pharmacodynamics and efficacy of RO7034067 in infants with type 1 SpinalMuscular AtrophyStatus: Set-up phase

18

Sponsor: F. Hoffmann – La Roche LtdPlanned start date (if set-up phase): SeptemberPI: Prof MuntoniRecruitment target: 2-4

MRC Centre CTIMPs Open Trials

14. A Single-Blind, Phase 2 Study To Evaluate The Safety And Efficacy OfTideglusib 400mg Or 1000mg For The Treatment Of Adolescent And AdultCongenital And Juvenile-Onset Myotonic DystrophyStatus: Open to recruitmentTarget: 16Sponsor: AMO PharmaCI/PI: Professor Hanns LochmullerRecruitment: 1

15. Multicentre, open-label, single arm study to evaluate long-term safety,tolerability, and effectiveness of 10 mg/kg olesoxime in patients with SMAStatus: Open to recruitmentTarget: 1-3Sponsor: RocheCI: Professor Hanns LochmullerPI: Dr Michela GuglieriRecruitment: 1

16. A Phase II Clinical Study to Assess the Activity and Safety of UtrophinModulation with SMT C1100 in Ambulatory Paediatric Male Subjects withDuchenne Muscular Dystrophy (C11005)Status: Open to recruitmentTotal Trial Target: 1-3Sponsor: SummitCI: Professor MuntoniPI: Dr Michela GuglieriRecruitment: 0

17. Observational outcomes in testosterone treatment of pubertal delay inDuchenne Muscular DystrophyStatus: Open to recruitmentSponsor: Newcastle upon Tyne NHS Hospitals Foundation TrustCI: Professor Volker StraubPI:Dr Michela GuglieriRecruitment target: 20; patients recruited: 10

18. A Phase III Randomized, Double-Blind, Placebo-Controlled Study toEvaluate the Efficacy and Safety of Sialic Acid Extended Release Tablets inPatients with GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy(HIBM)Status: Open to recruitmentSponsor: UltragenyxNewcastle:

19

CI/PI: Professor Hanns LochmüllerRecruitment target: 20; patients recruited: 18

19. Phase Ib/II, double-blind, placebo-controlled, within-subject, doseescalation study to evaluate the safety, efficacy, pharmacokinetics andpharmacodynamics of PF-06252616 administered to ambulatory boys withDuchenne Muscular Dystrophy.Status: Open to recruitmentSponsor/Funder: PFIZERNewcastle:CI: Dr Michela GuglieriPI: Dr Michela GuglieriRecruitment target: 3-5; Patients recruited: 4London GOSH:PI: Professor Francesco MuntoniRecruitment target: 5; Patients recruited: 4

20. A Phase III, Randomized, Double-blind, Sham-Procedure ControlledStudy to Assess the Clinical Efficacy and Safety of ISIS 396443 AdministeredIntrathecally in Patients with Infantile-onset Spinal Muscular AtrophyStatus: Open to recruitmentSponsor/Funder: Ionis Pharmaceuticals (previously known as ISIS Pharmaceuticals)London GOSHPI: Professor Francesco MuntoniRecruitment target: 2-4; Patients recruited: 4Newcastle:PI: Professor Volker StraubRecruitment target: 1; Patients recruited: 1

21. FOR-DMDDuchenne muscular dystrophy: double-blind randomized trial to find optimumsteroid regimen (FOR-DMD)Status: Open to recruitmentSponsor: University of RochesterFunder: NIHNewcastleCI: Professor Kate BushbyPI: Professor Volker StraubRecruitment target: 11 ; Patients recruited: 11London GOSHPI: Professor Francesco MuntoniRecruitment target: 4; recruited: 6

22. PTC124-GD-019 Open labelAn open-label study for previously treated Ataluren (PTC124) patients withnonsense mutation dystrophinopathyStatus: Ongoing but closed to recruitmentSponsor& Funder: PTCNewcastleCI: Professor Kate BushbyPI: Dr Michela GuglieriPatients recruited: 11

20

London GOSHPI: Professor Francesco MuntoniPatients recruited: 8

23. A phase III efficacy & safety study of Ataluren (PTC124®) in patientswith nonsense mutation dystrophinopathy (PTC Phase III) PTC124-GD-020-DMDStatus: Ongoing but closed to recruitmentSponsor/Funder: PTCNewcastleCI: Professor Kate BushbyPI: Dr Michela GuglieriPatients recruited: 4London GOSHPI: Professor Francesco MuntoniPatients recruited: 7

24. An Open-label, multicentre, multinational, ascending dose study of thesafety, tolerability, pharmacokinetics, pharmacodynamics, and exploratoryefficacy of repeated biweekly infusions of neoGAA in naïve andalglucosidasealfa treated late-onset Pompe disease patients.Status: Ongoing but closed to recruitmentSponsor/Funder: GenzymePI/CI: Professor Volker StraubPatients recruited: 1

25. A Phase II/III Randomized, Double-Blind, Placebo-Controlled Study toAssess the Efficacy and Safety of ISIS 420915 in Patients with FamilialAmyloid PolyneuropathyStatus: Ongoing but closed to recruitmentSponsor: Ionis Pharmaceuticals, Inc.PI: Professor Mary M ReillyPatients recruited: 6Global recruitment target: 195

26. A Pilot Study of Valproate Sodium for McArdle DiseaseStatus: Ongoing but closed to recruitmentSponsor: UCLFunder: MDUKPI: Dr Ros QuinlivanRecruitment target: 8; Patients recruited: 8

27. Bumetanide in HypoPPA randomised, double-blind, placebo-controlled, phase II clinical trial with across-over design assessing efficacy of a single dose of bumetanide inreducing focal attack severity in hypokalaemic periodic paralysis assessedusing the McManis protocolStatus: Open to recruitmentSponsor: UCLFunder: UCL CharitiesPI: Dr Doreen FialhoRecruitment target: 12; Patients recruited: 6

21

28. A Phase I/II, open-label, dose escalating with 48-week treatment studyto assess the safety and tolerability, pharmacokinetics, pharmacodynamicsand efficacy of PRO053 in subjects with Duchenne muscular dystrophyStatus: Ongoing but closed to recruitmentSponsor & Funder: ProsensaCI: Professor Volker StraubNewcastle:PI: Professor Volker StraubRecruitment target: 3-5; Patients recruited: 1London GOSH:PI: Professor Francesco MuntoniRecruitment target: 1-2; Patients recruited: 1

29. A 2-Part, Randomized, Double-Blind, Placebo-Controlled, Dose-Titration, Safety, Tolerability, and Pharmacokinetics Study (Part 1) Followedby an Open-Label Efficacy and Safety Evaluation (Part 2) of SRP-4053 inPatients with Duchenne Muscular Dystrophy (DMD) Amenable to Exon 53Skipping.Status: Open to recruitmentSponsor: Sarepta, EU GrantLondon GOSH:CI/PI: Professor Francesco MuntoniRecruitment target: 12; Patients recruited: 10Newcastle:PI: Professor Volker StraubRecruitment target: 12; Patients recruited: 6

30. A Multi-Centre, Randomized, Double-Blind, Placebo-Controlled, Multiple-Dose Study to Investigate the Safety, Tolerability, Pharmacokinetics andPharmacodynamics of RO6885247 following 12 Weeks treatment in Adult andPaediatric Patients with Spinal Muscular AtrophyStatus: On HoldSponsor: F. Hoffmann-La Roche LtdNewcastle:CI/PI: Professor Hanns LochmüllerRecruitment target: 7; Patients recruited: 4London GOSH – not open yetPI: Professor Francesco Muntoni

31. A Phase III Extension Study of Ataluren (PTC124) in Patients withNonsense Mutation Dystrophinopathy (PTC20eStatus: Ongoing but closed to recruitmentSponsor PTC therapeuticsNewcastleCI: Professor Kate BushbyPI: Dr Michela GuglieriRecruitment target: 4; Patients recruited: 4London GOSHPI: Professor Francesco MuntoniRecruitment target: 6-9; Patients recruited: 8

22

32. A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Studyto Assess the Safety and Efficacy of UX007 in Subjects with GlucoseTransporter Type 1 Deficiency SyndromeStatus: OngoingSponsor: UltragenyxPI: Dr Rita HorvathRecruitment target: 3; patients recruited: 4

33. Long-term Safety and Efficacy Study of Deferiprone in Patients withPantothenate Kinase-Associated Neurodegeneration (PKAN)- TIRCON2012V1-EXTStatus: OngoingSponsor: ApoPharma Inc.CI: Prof Patrick ChinneryPI: Dr Rita HorvathRecruitment target: 6; patients recruited: 2

34. A Feasibility Study of Bezafibrate in Mitochondrial MyopathyStatus: OngoingSponsor: Newcastle upon Tyne Hospitals NHS Foundation TrustCI: Prof Patrick ChinneryPI: Prof Rita HorvathRecruitment target: 10 (gp 1 n=6, gp 2 n=4); patients recruited: 4

35. DMD Heart Protection TrialA double-blind randomised multi-centre, placebo-controlled trial of combinedACE-inhibitor and beta-blocker therapy in preventing the development ofcardiomyopathy in genetically characterised males with DMD without echo-detectable left ventricular dysfunctionStatus: Ongoing but closed to recruitmentSponsor: Newcastle upon Tyne NHS Hospitals Foundation TrustFunder: British Heart FoundationNewcastlePI: Dr John BurkeRecruitment target: 20-30; Patients recruited: 26London GOSHPI: Professor Francesco MuntoniRecruitment target: 50-60; Patients recruited: 46

36. A randomized, double-blind, placebo-controlled trial of deferiprone inpatients with pantothenate kinase-associated neurodegeneration (PKAN)-TIRCON2012V1Status: Ongoing but closed to recruitmentSponsor: ApoPharma Inc.CI: Prof Patrick ChinneryPI: Dr Rita HorvathRecruitment target: 8; patients recruited: 8

MRC Centre CTIMPs Completed Trials

23

37. A phase IIb, open-label study to assess the efficacy, safety,pharmacodynamics and pharmacokinetics of multiple doses of PRO045 insubjects with Duchenne muscular dystrophy (PRO045)Status: CompletedSponsor/Funder: ProsensaNewcastleCI/PI: Professor Volker StraubPatients recruited: 2London GOSHPI: Professor Francesco MuntoniPatients recruited: 1

38. SMT C11003A placebo-controlled, multi-centre, randomized, double-blind, 3-period doseescalation study to evaluate the PK and safety of SMT C1100 in paediatricpatients with Duchenne muscular dystrophy (DMD) who follow a balanceddietStatus: CompletedSponsor: Summit Corporation plcPI: Professor Francesco MuntoniRecruitment target: 4; Patients recruited: 4

39. A randomized, double-blind, placebo-controlled, multicenter, parallelgroup, dose-finding, pivotal, phase IIb/III study to evaluate the efficacy,safety and tolerability of intravenous BYM338 at 52 weeks on physicalfunction, muscle strength, and mobility and additional long-term safety up to2 years in patients with sporadic inclusion body myositisStatus: CompletedSponsor/Funder: NovartisCI: Professor Michael HannaPIs: Hector Chinoy; James Miller (recruited 15)Patients recruited: 44 (UK); 353 (Worldwide)

40. Extension of the CBYM338B2203 phase IIb/III study to evaluate thelong-term efficacy, safety and tolerability of intravenous BYM338 in patientswith sporadic inclusion body myositisStatus: CompletedSponsor: UCLFunder: NovartisPI: Professor Michael HannaUK Recruitment target: 26 patientsNewcastle PI: Dr James Miller:Patients recruited: 9London PI: Professor Michael HannaPatients recruited: 7

41. PATH extension StudyMulticentre, open-label extension study to investigate the long-term safetyand efficacy of IgPro20 in maintenance treatment of chronic inflammatorydemyelinating polyneuropathy (CIDP) in subjects completing studyIgPro20_3004Status: Completed

24

Sponsor: CSL BehringPI: Dr Michael LunnRecruitment target: 3; Patients recruited: 3

42. A double-blind, randomised, multicentre, placebo-controlled, parallel-group study to evaluate the efficacy and safety of fingolimod 0.5 mgadministered orally once daily versus placebo in patients with chronicinflammatory demyelinating polyradiculoneuropathy (CIDP)Status: Completed/Terminated for futilitySponsor: NovartisPI: Dr Michael LunnRecruitment target: 1-2; Patients recruited: 2

43. GSK/Prosensa clinical trial in DMD boys with study drug GSK2402968(GSK Extension Study)An open-label extension study of the long-term safety, tolerability andefficacy of GSK2402968 in subjects with Duchenne Muscular DystrophyStatus: Closed to recruitment/ Dosing suspendedSponsor: GlaxoSmithKlineFunder: GlaxoSmithKlineNewcastleCI/PI: Professor Volker StraubTarget: 5 Recruitment: 5London GOSHPI: Professor Francesco MuntoniRecruitment target: 8; Patients recruited: 8

44. SMT C1100 – A Phase I, Open-label, Single and Multiple Oral Dose,Safety, Tolerability and Pharmacokinetic Study in Paediatric Patients withDuchenne Muscular DystrophyStatus: CompletedSponsor & Funder: SummitLondon GOSHPI: Professor Francesco MuntoniPatients Recruited: 4PLoS One. 2016 Apr 7;11(4)

45. Randomised double-blind placebo controlled trial of long-term ascorbicacid treatment in Charcot-Marie-Tooth disease type 1aStatus: CompletedSponsor: University College LondonFunder: Muscular Dystrophy UK (MDUK)PI: Professor Mary M ReillyRecruitment target: 50; Patients recruited: 50Lancet Neurology 2011 Apr;10(4):320-8.

46. Therapeutic trial of Mexiletine in Non-Dystrophic MyotoniaA Phase II Randomised, Double-Blind, Placebo controlled, Cross-Over Study toInvestigate the Efficacy of Mexiletine in Patients with Non-DystrophicMyotoniaStatus: CompletedSponsor: University College London (UCL)

25

Funder: Food and Drug Administration (FDA – USA)PI: Professor Michael HannaRecruitment target: 15; Patients recruited: 14JAMA 2012 Oct 3;308(13):1357-65The MRC Centre has been granted 'Orphan Medicinal Product' designation forMexiletine for Non-Dystrophic Myotonia by the European Commission

47. A phase IIb efficacy and safety study of PTC124 in subjects withnonsense mutation mediated Duchenne and Becker muscular dystrophyStatus: CompletedSponsor: PTC TherapeuticsFunder: PTC TherapeuticsNewcastleCI: Professor Kate BushbyLondon GOSHPI: Professor Francesco MuntoniPatients recruited: 11

48. Restoring dystrophin expression in Duchenne Muscular Dystrophy: aphase I/II clinical trial using AVI-4658Status: CompletedSponsor: Imperial College LondonFunder: Department of Health (DoH)PI: Professor Francesco MuntoniPatients recruited: 8Lancet Neurology 2009 Oct;8(10):918-28

49. Dose-ranging study of AVI-4658 to induce dystrophin expression inselected Duchenne Muscular Dystrophy (DMD) patients – (Systemic study)Status: CompletedSponsor: AVI BiopharmaFunder: Medical Research Council (MRC) and AVI BiopharmaNewcastle:PI: Professor Kate BushbyLondon:PI: Professor Francesco MuntoniPatients recruited: 19Lancet. 2011 Aug 13;378(9791):595

50. Eculizumab for Myasthenia GravisA Randomised, Double-Blind, Placebo-controlled, Cross-over, Multicentre Study ofEculizumab in Patients with Generalised Myasthenia Gravis (GMG) who have Moderateto Severe Muscle Weakness Despite Treatment with ImmunosupressantsStatus: CompletedSponsor/Funder: Alexion Pharmaceuticals, Inc.PI: Professor Dimitri KullmannMuscle Nerve. 2013 Jul;48(1):76-84

51. Arimoclomol for Sporadic Inclusion Body Myositis (IBM)A Randomised, Double-blinded, Placebo-controlled Pilot Study Assessing theSafety and Tolerability of Arimoclomol in Adult Patients with SporadicInclusion Body Myositis

26

Status: CompletedSponsor: University College London (UCL)Funder: Arthritis Research UK and Myositis Support GroupPI: Professor Michael HannaRecruitment target: 12; Patients recruited: 12Sci Transl Med. 2016 Mar 23;8(331):331

52. Investigation of the ability of Otelixizumab to inhibit in vitro antigen-specific T cell responses from Myasthenia Gravis patientsStatus: CompletedSponsor/Funder: GlaxoSmithKlinePI: Professor Dimitri KullmannRecruitment target: 40; Patients recruited: 39

53. GSK/Prosensa clinical trial in DMD boys with study drug GSK2402968(PRO051)A phase II, double-blind, exploratory, parallel-group, placebo-controlledclinical study to assess two dosing regimens of GSK2402968 for efficacy,safety, tolerability and pharmacokinetics in ambulant subjects with Duchennemuscular dystrophyStatus: CompletedSponsor: GlaxoSmithKlineFunder: GlaxoSmithKlineNewcastleCI/PI: Professor Volker StraubTarget: 4, Recruitment: 5London GOSHPI: Professor Francesco MuntoniRecruitment target (UK): 8; Patients recruited (UK): 8Lancet Neurol. 2014 Oct;13(10):987-96

54. Therapeutic trial of lithium carbonate in MND/(LiCALS)A double-blind, randomised, placebo controlled trial of lithium carbonate inpatients with amyotrophic lateral sclerosisStatus: CompletedSponsor: University College London Hospitals NHS Foundation TrustFunder: Motor Neurone Disease Association, and NIHRUCL PI: Dr Richard OrrellRecruitment target: 22; Patients recruited: 22BMC Neurol. 2011 Sep 21;11:111Lancet Neurol. 2013 Apr;12(4):339-45

55. LiCALS Open Label ExtensionLiCALS open label extension trial of lithium carbonate in amyotrophic lateralsclerosisStatus: CompletedSponsor: University College London Hospitals NHS Foundation TrustStart date: March 2011Funder: Motor Neurone Disease Association, and NIHRUCL PI: Dr Richard OrrellRecruitment target: 3; Patients recruited: 3Results in Press

27

56. GSK1223249 in MND/ALS (the Nogo-A study)A Phase I, multi-centres, randomized, placebo-controlled, double-blind, singleand repeat dose escalation of a drug to treat ALSStatus: CompletedSponsor: Royal Free Hampstead NHS TrustStart date: September 2010Funder: GlaxoSmithKlineUCL PI: Dr Richard OrrellRecruitment target: 2; Patients recruited: 2PLoS One. 2014 May 19; 9(5):e97803. doi: 10.1371/journal.pone.0097803

57. HYP HOP: Dichlorphenamide vs. Placebo for Periodic Paralysis Double-blind, placebo-controlled, parallel group, phase III study comparingdichlorphenamide vs. placebo for the treatment of periodic paralysisStatus: CompletedSponsor: University RochesterFunder: National Institutes of Health (NIH - USA)PI: Professor Michael HannaRecruitment target: 40; Patients recruited: 14Neurology 2016 Apr 12;86(15):1408-16The MRC Centre has been granted 'Orphan Medicinal Product' designation fordiclofenamide for treatment of familial periodic paralysis by the European Commission

58. Phase II, multicentre, randomized, adaptive, double-blind, placebocontrolled Study to assess Safety and Efficacy of Olesoxime (TRO19622) in 3-25 year old Spinal Muscular Atrophy (SMA) patientsStatus: CompletedSponsor: TROPHOSFunder: Association Française contre les MyopathiesNewcastlePIs: Professor Hanns Lochmüller, Helen RoperTarget: 10, Recruitment: 3 (pre-screening target achieved)London GOSHPI: Professor Francesco Muntoni,Recruitment target: 10Recruitment target UK: 30Results presented during the 66th American Academy of Neurology annual meeting(Philadelphia 2014).Trophos has been granted 'Orphan Medicinal Product' designation for olesoxime for thetreatment of SMA by the European Commission and orphan drug designation by the USFood and Drug Administration.

59. The PATH StudyRandomized, multicentre, double-blind, placebo-controlled, parallel-groupphase III study to investigate the efficacy, safety and tolerability of 2different doses of Igpro20 (subcutaneous immunoglobulin) for the treatmentof chronic inflammatory demyelinating polyneuropathy (CIDP)Status: CompletedSponsor: CSL BehringPI: Dr Michael LunnRecruitment target: 5; Patients recruited 6

28

MRC Centre Natural History – Longitudinal Studies: Set-up Phase

60. Prospective. Longitudinal Study of the Natural History and functionalstatus of patients with MyoTubular Myopathy (NatHis-MTM)Status: Set-up phaseSponsor: Institute of MyologyPI: Professor Francesco MuntoniRecruitment target: 6-8

61. MYOPROSP: A prospective cohort study to identify a stratified approachin the diagnosis, treatment and delivery of care in adult idiopathicinflammatory myopathyStatus: Set-up phasePlanned start date: September 2016Sponsor: University of ManchesterFunder: MRCPI: Dr Pedro MachadoRecruitment target: 31

62. LEMS Disease Registry – UK ProposalStatus: Set-up phaseSponsor: BioMarin Europe LtdPI: Professor Michael HannaPatients target: 10 from the NHNN

63. Characterising electrophysiological patterns in neuromuscular diseaseover time using serial neurophysiology studiesStatus: Set up phaseSponsor: Newcastle upon Tyne Hospitals Foundation TrustCI/PI: Professor Hanns LochmullerRecruitment Target: 63 participants

MRC Centre Natural History – Longitudinal Studies: Open Studies

64. PhenoDM1: Myotonic Dystrophy type 1 (DM1) deep phenotyping toimprove delivery of personalised medicine and assist in the planning, designand recruitment of clinical trials.Status: Open to recruitmentSponsor: Newcastle upon Tyne NHS Hospitals Foundation TrustNewcastleCI/PI: Professor Hanns LochmüllerRecruitment target: 200, patients recruited: 88London NHNNPI: Dr Chris TurnerRecruitment target: 200, patients recruited: 46

65. NIHR Pain Consortium (Bridge Neuropathic Pain)Status: Open to recruitmentFunder: NIHR BioResource – Rare DiseasesSponsor: Cambridge University Hospitals NHS Foundation Trust & University ofCambridge

29

London NHNNPI: Professor Mary M ReillyPatients recruited: 9NewcastlePI: Professor Rita HorvathPatients recruited: 12

66. Becker Muscular Dystrophy - A Natural History Study to Predict Efficacyof Exon SkippingStatus: Open to recruitmentSponsor: CINRGNewcastleCI/PI: Dr Michela GuglieriRecruitment target: 8; Patients recruited: 8

67. FSHD registryStatus: Open to recruitmentFunder: Muscular Dystrophy UKPI: Professor Hanns LochmüllerPatients recruited: 655

68. The International IBM Consortium Genetic StudyUsing Next Generation Sequencing to Unravel the Pathogenesis of SporadicInclusion Body Myositis (IBM)Status: Open to recruitmentFunder: MRCUK recruiting target: 400London NHNNCI: Professor Michael HannaPatients recruited: 101NewcastlePI: Dr MillerPatients recruited: 33Orphanet J Rare Dis. 2014 Jun 19; 9:88Neurobiol Aging. 2015 Apr;36(4):1766.e1-3

69. Hereditary Inclusion Body Myopathy-Patient Monitoring Program(HIBM-PMP): A Registry and Prospective Natural History Study to AssessHIBM DiseaseStatus: Open to recruitmentSponsor: UltragenyxFunder: UltragenyxCI/PI: Professor Hanns LochmüllerRecruiting target: 25 ; Patients recruited: 25

70. Myotubular and Centronuclear Myopathy Patient RegistryStatus: Open to recruitmentFunder: Myotubular TrustPI: Professor Hanns LochmüllerPatients recruited: 167

71. SMA REACH UK

30

Spinal Muscular Atrophy Research and Clinical Hub UKStatus: Open to recruitmentFunder: UK SMA charity: SMA TRUSTSponsor: Great Ormond Street HospitalLondon GOSHCI: Professor Francesco MuntoniRecruitment target: 80; Patients recruited: 68NewcastlePI: Professor Katie BushbyRecruitment target: 70; Patients recruited: 26 on hold awaiting extension

72. OPTIMISTICObservational Prolonged Trial in Myotonic Dystrophy type 1 to ImproveQuality of Life Standards, a Target Identification CollaborationStatus: Ongoing but closed to recruitmentFunder: EU Seventh Framework ProgrammeSponsor: The Newcastle upon Tyne Hospitals NHS Foundation TrustNewcastleCI/PI: Dr Grainne GormanUK recruitment target: 72; Patients recruited: 64 (83 Participants)

73. Genotype-Phenotype in inherited neurodegenerative diseasesStatus: Open to recruitmentFunder: Wellcome TrustSponsor: Newcastle upon Tyne NHS Hospitals Foundation TrustPI: Professor Patrick ChinneryPI: Professor Rita HorvathPatients recruited: 451

74. CBYM338B2302: A Prospective Natural History Study in SporadicInclusion Body Myositis (sIBM)Status: Ongoing but closed to recruitmentSponsor: NovartisPI: Dr Pedro Machado/ Professor Michael HannaRecruitment target: 30; Patients recruited: 37

75. Mito Exome Sequencing StudyStatus: Open to recruitmentSponsor: Guys and St ThomasFunder: Lily FoundationCI: Dr Charulata DeshpandeNewcastlePI: Dr Robert McFarlandRecruitment target: 25 families; Families recruited: 53 (158 participants)LondonPI: Professor Michael HannaRecruitment target: 100 families; Families recruited: 17

76. Reproductive Decision Making in Mitochondrial DiseaseStatus: Open to recruitmentSponsor: Newcastle Upon Tyne NHS Foundation TrustFunder: MRC

31

NewcastlePI: Professor Doug TurnbullRecruiting target: 30; Patients recruited: 15

77. Factors Determining Disease Expression in Mitochondrial Disease Due tothe m.3243 A>G MutationStatus: Open to recruitmentSponsor: NUTHFunder: BRC Confidence and ConceptCI and PI: Dr Robert McFarlandRecruitment target 16 (8 asymptomatic m.3243, 8 MELAS)Patients recruited: 0

78. International Guillain-Barre′ Syndrome (GBS) Outcome Study - IGOS Status: Open to recruitmentSponsor: Glasgow UniversityFunder: Wellcome Trust/GBS Support groupPI: Dr Michael LunnRecruiting target: 10 from the NHNN, Patients recruited: 3PI: Dr James MillerTarget: 30, Current Recruitment: 27

79. Identification of disease susceptibility genes associated withdevelopment and clinical characteristics of primary inflammatory musclediseases, PM, DM and IBMStatus: Open to recruitmentSponsor: University of ManchesterFunder: University of Manchester/Myositis Support Group/Salford Royal NHSFoundation TrustPI: Professor Michael HannaRecruited patients: 65CI: Professor William OllierPI: Dr James MillerTarget: 100 in first year then approx. 20-30 per year. Total recruited to date: 143

80. CMT: A Natural History studyCharcot-Marie-Tooth Disease and related disorders: A Natural History StudyStatus: Open to recruitmentSponsor: University College London HospitalsFunder: National Institutes of Health (NIH – USA)Recruitment target (UK):1000London NHNNCI: Professor Mary M ReillyPatients recruited: 972London GOSHPI: Professor Francesco MuntoniPatients recruited: 97NewcastlePI: Dr Rita HorvathPatients recruited: 97

32

81. MRC Centre Mitochondrial Disease Patient Cohort: A Natural HistoryStudy and Patient RegistryStatus: Open to recruitmentSponsor: Newcastle Upon Tyne Hospitals NHS FoundationFunder: MRCCI: Dr R McFarlandTotal recruitment target 1500Recruitment to date: 1327Newcastle: 647UCL: 363Oxford: 138Satellites: 179

82. The Natural History of Inclusion Body Myositis (IBM Net)Status: Open to recruitmentSponsor: University College HospitalsFunder: MDCPIs: Dr Matt Parton, Professor Michael HannaRecruitment target 120-150; Patients recruited: 94Neuromuscul Disord. 2013 May; 23(5):404-12

83. Kennedy’s Disease – Study and RegisterStatus: Open to recruitmentSponsor: UCLHCI: Professor Michael HannaPatients recruited: 86

84. Investigation of Human Neurological Ion Channel DisordersStatus: Open to recruitmentSponsor: University College London HospitalsCI: Professor Michael HannaPatients recruited: 122

85. AFM Natural History StudyOutcome measures in Duchenne Muscular Dystrophy: A Natural History StudyStatus: Ongoing but closed to RecruitmentSponsor: UCL Institute of Child HealthFunder: AFMLondon GOSHPI: Professor Francesco MuntoniPatients recruited: 16NewcastlePI: Professor Volker StraubPatients recruited: 20

86. Biomarker Studies in MND/ALSCharacterisation of a panel of disease biomarkers in peripheral blood fromindividuals with motor neuron diseaseStatus: Ongoing but closed to recruitmentSponsor: Queen Mary UniversityFunder: Motor Neurone Disease AssociationUCL PI: Dr Richard Orrell

33

Patients recruited: 195Neurology. 2015 Jun 2;84(22):2247-57

87. UK SMA registryStatus: Open to recruitmentFunder: SMA Support UKPI: Professor Hanns LochmüllerPatients recruited: 529

88. UK Myotonic Dystrophy patient registryStatus: Open to recruitmentFunder: Myotonic Dystrophy Support Group, Muscular Dystrophy UKPI: Professor Hanns LochmüllerPatients recruited: 624

89. Global FKRP registryStatus: Open to recruitmentFunder: LGMD2I Research FundPI: Professor Volker StraubPatients recruited: 463

90. GNE myopathy-Disease Monitoring Programme (GNE-DMP): A registryand prospective observational natural history study to assess HIBM diseaseStatus: Open to recruitmentFunder: Ultragenyx and Newcastle UniversityPI: Professor Hanns LochmüllerPatients recruited: 218

91. Jain Foundation Clinical outcome study of dysferlinopathy (limb-girdlemuscular dystrophy type 2B)Status: Ongoing but closed to recruitmentSponsor: The Newcastle upon Tyne Hospitals NHS Foundation TrustFunder: Jain FoundationNewcastleCI/PI: Professor Kate BushbyRecruitment target: 20; Patients recruited: 43

MRC Centre Natural History – Longitudinal Studies: Completed Studies

92. FSHD – NH StudyA multicentre collaborative study on the clinical features, expression profiling,and quality of life of infantile onset facioscapulohumeral muscular dystrophyStatus: CompletedSponsor: CINRGCI/PI: Dr Michela GuglieriPatients recruited: 9

93. A Prospective, Non-Interventional Clinical Assessment Study in X-LinkedMyotubular Myopathy (XLMTM) Subjects Aged 3 Years and YoungerStatus: Open to recruitmentSponsor: AudentesFunder: Audentes

34

PI: Prof MuntoniRecruitment target: 3

94. Study of clinical and radiological changes in teenagers with Duchennemuscular dystrophy theoretically treatable with exon 53 skipping (Pre-U7)Status: CompletedSponsor: GenethonFunder: GenethonLondon GOSHPI: Professor Francesco MuntoniRecruitment target: 5; Patients recruited: 5

95. Therapeutic trial of diaphragmatic pacing in MND/ALS (DiPALS)A randomised controlled trial in patients with respiratory muscle weaknessdue to motor neurone disease of the NeuRx RA/4 Diaphragm Pacing SystemStatus: CompletedSponsor: Royal Free London NHS Foundation TrustStart date: March 2013Funder: NIHR Health Technology Assessment Programme / Motor Neurone DiseaseAssociation / Department of Health subvention fundingUCL PI: Dr Richard OrrellRecruiting target: 4; Patients recruited: 2Lancet Neurol. 2015 Sep;14(9):883-92

96. A Study of Biological Prognostic Factors for IGM Paraproteinemic Anti-Mag Associated Peripheral NeuropathyStatus: CompletedSponsor: UCLPI: Dr Michael LunnRecruitment target: 45 patients

97. Natural History study of Hereditary Sensory Neuropathy type 1secondary to SPTLC1 and SPTLC2 mutationsStatus: CompletedSponsor: University College London HospitalsPI: Professor Mary M ReillyPatients recruited: 35

98. Validation of prognostic biomarkers in Charcot-Marie-Tooth disease type1AStatus: completedFunder: AFMSponsor: Newcastle upon Tyne NHS Hospitals Foundation TrustPI: Professor Rita HorvathRecruitment target: 20; patients recruited: 20

99. Prospective evaluation of gastrostomy in MND (PROGAS). Prospectiveevaluation of gastrostomy in MND (PROGAS).Status: CompletedSponsor: Royal Free London NHS Foundation TrustStart date: 2011Funder: Motor Neuron Disease Association / South Yorkshire CLRN

35

UCL PI: Dr Richard OrrellRecruiting target: 6; Patients recruited: 6Amyotroph Lateral Scler Frontotemporal Degener. 2013 Mar;14(2):96-104Lancet Neurology 2015, 14 (7): 702-709

100. Incidence of complications of pregnancy in patients diagnosed withmitochondrial disease or carrying a mitochondrial DNA mutationStatus: CompletedSponsor: Newcastle Upon Tyne NHS Foundation TrustFunder: MRCPI: Dr Robert McFarlandUK Recruitment target: 200; Patients recruited: 151 (80 patients, 71 controls)

101. Non-Dystrophic Myotonias: Genotype and Phenotype correlation andlongitudinal studiesStatus: CompletedSponsor: University College LondonFunder: National Institutes of Health (NIH – USA)PI: Professor Michael HannaPatients recruited: 20Brain. 2013 Jul; 136 (Pt 7):2189-200

102. Andersen-Tawil Syndrome: Genotype and Phenotype correlation andlongitudinal studyStatus: CompletedSponsor: University College LondonFunder: National Institutes of Health (NIH – USA)PI: Professor Michael HannaRecruitment target >10; Patients recruited: 11

103. Episodic Ataxia Syndrome: Genotype-Phenotype correlation andlongitudinal studyStatus: CompletedSponsor: University College LondonFunder: National Institutes of Health (NIH – USA)PI: Professor Michael HannaRecruitment target >20; Patients recruited: 36Brain 2014 Apr;137(Pt 4):1009-18

104. Outcome measures in SMA type II and IIIStatus: CompletedSponsor: UCL Institute of Child HealthFunder: SMA EuropeLondon GOSHPI: Professor Francesco MuntoniNewcastlePI: Professor Kate BushbyUK Recruitment target: 23; Patients recruited: 26

105. Peripheral Neuropathy outcome measures standardisation study(PERINOMS)Status: Completed

36

Sponsor: Erasmus Medical CenterPI: Dr Michael LunnRecruitment target: 120; Patients recruited: 110

106. Standardized NBIA patient registry and natural history studyStatus: CompletedSponsor: University of MunichPI: Professor Patrick ChinneryRecruitment target: 20; Patients recruited: 24

MRC Centre Exercise Studies: Set-up Studies

107. Effect of orthoses and underfoot vibration on balance in neuropathyStatus: Set-up phaseSponsor: St George's University of LondonFunder: St George's University of LondonPlanned start date: September 2016CI: Dr Gita RamdharryRecruitment target: 10

108. BALTiC study: A feasibility analysis of home based BALance Training inpeople with Charcot-Marie-Tooth disease:Status: Set-up phaseSponsor: St George's University of LondonFunder: CMT United KingdomPlanned start date: September 2016PI: Dr Gita RamdharryRecruitment target: 16

109. An exploration of the 12 minute walk test and its impact on McArdlepatients' confidence levels and pain descriptions: A mixed methods studyStatus: Set- up phaseSponsor: UCLHFunder: The National Brain Appeal, Small Acorns Fund and the Association forGlycogen Storage Disease (AGSD)-(UK).CI & PI: Dr. Ros QuinlivanRecruitment target: 21

MRC Centre Exercise Studies: Open Studies

110. Physical Activity and Inclusion Body MyositisStatus: Open to recruitmentSponsor: Newcastle upon Tyne Hospitals NHS Foundation TrustFunder: MRCPI: Dr M TrenellCollaborating site MRC Centre LondonRecruitment target: 500 across 5 disease sites

111. Exercise and SarcopeniaStatus: Ongoing but closed to RecruitmentSponsor: Newcastle upon Tyne Hospitals NHS Foundation Trust Funder: MRCPI: Dr Grainne Gormann

37

Collaborating site MRC Centre London (Recruitment at Newcastle only)Recruitment target: 36; Patients recruited: 34

112. Exercise, cognition and brain vitalityStatus: Open to recruitmentSponsor: Newcastle upon Tyne Hospitals NHS Foundation TrustFunder: MRCNewcastlePI: Dr Grainne GormanPatients recruited: 29

113. Development a paediatric and adult home based assessment tool formonitoring symptoms of myasthenic syndromes.Status: Open to recruitmentSponsor: UCL / GOSH / UCLHFunder: MyAware Charity & UCL impactPI: Professor Francesco MuntoniRecruitment target: 120 (including adults and children); Patients recruited: 23 children& 49 adults.

MRC Centre Exercise Studies: Closed Studies

114. Exploring the causes of falls and balance impairments in people withneuromuscular diseasesStatus: CompletedSponsor: University College HospitalsFunder: NIHRPI: Dr Gita RamdharryRecruiting target: 30; Patients recruited: 30Physiotherapy. 2014 Mar;100(1):61-5

115. Aerobic training in Charcot-Marie-Tooth disease and Inclusion BodyMyositis.Status: CompletedSponsor: University College HospitalsPI: Dr Gita RamdharryRecruiting target: 60; patients recruited: 47

116. Strengthening Hip muscles to improve walking distance in people withCharcot- Marie-Tooth diseaseStatus: CompletedSponsor: University College London HospitalsFunder: Muscular Dystrophy UK (MDUK)PI: Professor Mary M ReillyRecruitment target: 32; Patients recruited: 32J Peripher Nerv Syst. 2014 Dec;19(4):328-32

117. Exercise training in patients with Mitochondrial disease: Assessing thebenefitsStatus: CompletedSponsor: University NewcastleFunder: Muscular Dystrophy UK (MDUK)

38

PI: Professor Doug TurnbullCollaboration site MRC Centre London (Hanna)Patients recruited: 9 Newcastle; 0 London

118. Cardiac adaptations to exercise in Mitochondrial diseaseStatus: CompletedSponsor: Newcastle upon Tyne Hospitals NHS Foundation TrustFunder: MRCPI: Professor Doug Turnbull/Dr M TrenellPatients recruited: 39Int J Cardiol. 2013 Oct 9;168(4):3599-608J Neurol. 2014 Jan;261(1):73-82

MRC Centre Imaging Studies: Set-up Phase

MRC Centre Imaging Studies: Open Studies

119. Brain imaging and cognition in patients with Duchenne musculardystrophyStatus: Open to recruitmentSponsor: Newcastle upon Tyne NHS Foundation TrustFunder: MDUKPI: Professor Volker StraubRecruitment target: 32; patients recruited: 11

120. Magnetic Resonance Imaging Characteristics of InflammatoryNeuropathies – a pilot studyStatus: Open to recruitmentSponsor: University College London HospitalsPI: Dr Michael LunnPatients recruited: 20: 10 patient; 10 controls

121. Magnetic Resonance Imaging as an outcome measure in MotorNeuropathies: a pilot studyStatus: Open to recruitmentFunder: BRCSponsor: UCLHPI: Professor Michael HannaPatients recruited: 40

122. A study of Qualitative Magnetic Resonance Imaging in ChannelopathiesStatus: On holdSponsor: UCLPI: Professor Michael HannaPatients recruited: 0

123. A study using Magnetic Resonance Imaging (MRI) and MagneticResonance Spectroscopy (MRS) in patients with Limb girdle musculardystrophy 2I ; an assessment of skeletal and cardiac muscle damageStatus: Open to recruitmentSponsor: Newcastle upon Tyne NHS Hospitals Foundation Trust

39

NewcastleCI/PI: Professor Volker StraubRecruiting target (UK): 20, UNEW: ~10; Patients recruited: 9London - Due to open shortlyPI: Professor Michael HannaRecruitment target: 6

MRC Centre Imaging Studies: Completed Studies

124. MRI in IBM and CMTA Study of Quantitative Magnetic Resonance Imaging and the Clinical Featuresof Inclusion Body Myositis and Charcot Marie Tooth DiseaseStatus: CompletedSponsor: University College London HospitalsFunder: MRCPI: Professor T Yousry/Dr J ThorntonPatients recruited: 72: 40 patients; 32 controlsEuropean Radiology 2014 Jul;24(7):1610-20Lancet Neurology 2016 Jan;15(1):65-77

125. MRI in FKRP-Related LGMD2IA study using Magnetic Resonance Imaging (MRI) and Magnetic ResonanceSpectroscopy (MRS) in Patients with Limb Girdle Muscular Dystrophy 2I; anassessment of muscle damageStatus: CompletedSponsor: Newcastle NHS TrustFunder: MRCPI: Professor Volker StraubRecruited patients: 22Morrow JM et al. Quantitative magnetic resonance imaging in limb-girdle musculardystrophy 2I: a multinational cross-sectional study.PLoS One. 2014; 9 (2):e90377.Morrow JM et al. Quantitative Muscle MRI as an Assessment Tool for MonitoringDisease Progression in LGMD2I: A Multicentre Longitudinal Study.PLoS One. 2013; 8 (8):e70993.

126. A Study of Quantitative Magnetic Resonance Imaging to Monitor DiseaseActivity in Hypokalaemic Periodic Paralysis.Status: CompletedSponsor: UCLFunder: MRCPI: Professor Michael HannaRecruitment: 24 (12 patients; 12 controls)

127. Evaluation and Optimisation of Muscle Imaging Biomarkers in Support ofNon-ambulant Duchenne Muscular Dystrophy StudiesStatus: CompletedSponsor: UCL Institute of Child HealthFunder: GSKPI: Professor Francesco MuntoniUK Patient target: 15; Patients recruited: 15 patients - 10 controls

40

Future Meetings 2016-2017

MRC Centre for Neuromuscular Diseases / Muscular Dystrophy UK

Translational Research Conference 2017

22-23 March 2017

ICH, London

Contact: christine.oldfield@ucl.ac.uk

EUROMAC Symposium 2017 (tbc)

Contact: helena.coskeran @uclh.nhs.uk

DM Patient information days 2017 (dates tbc)Contact: Dr Chris Turner. chris.turner@uclh.nhs.uk

British Peripheral Nerve Society

11 November 2016 King’s College Hospital, London (Contact: Mary Reilly)

17th March 2017, Newcastle upon Tyne (contact: James Miller)

Regular Meetings

Muscle Interest Group

Occurs every 6 months

Contact: Helen Roper helen.roper@heartofengland.nhs.uk

Myasthenia Interest Group

Contact: Marguerite Hill Marguerite.Hill@wales.nhs.uk

British Peripheral Nerve Society

Meets twice a year

Contact: Mary Reilly m.reilly@ucl.ac.uk

UK Databases/Registries

North Star

Contact: Adnan Manzur adnan.manzur@gosh.nhs.uk

SmartNet

Contact: Adnan Manzur adnan.manzur@gosh.nhs.uk

IBM-NET

Contact: Pedro Machado p.machado@ucl.ac.uk

41

Appendix 1: Previous AGM minutes

Minutes of the 2015 AGM

Thursday Sept 10, 18.35

Agenda

1. Minutes of previous AGM

2. Accounts

3. Secretariat

4. Rules of the society

5. Attracting new membership – MH

6. Teaching day – RQ

7. Muscle Pathology services – Caroline Sewry

8. AOB

Minutes of AGM

1. Minutes of Previous AGM

The minutes of the previous AGM were agreed

2. Accounts

The annuals subs fee remains at £25

Accounts for this year not finalised – MH reported surplus at c. 1000 and accounts available to

those wishing to view.

Surplus is invested in teaching day attendance free places and bursaries for travel. c. 35 free

teaching day places were awarded this year.

Secretariat costs are deducted from surplus.

3. Secretariat

Secretariat remains the same.

4. Membership of BMS Council

MH will organize a poll for replacement of R Petty and C Sewry who have stepped down.

MH is happy in principle to step down as BMS council chair and this will be discussed at next

council meeting. Anyone interested in running for leader needs to provide a secretariat for the

event.

CS commented that it is critical to have muscle pathology representation at the BMS

5. Attracting new membership

RQ – advertise (by word of mouth) for new members at the Teaching day

FM – suggestion to produce a BMS pop-up poster which could be taken to other events

VS – attendees from teaching day to be encouraged to stay on for BMS

6. Teaching day

This yr was the inaugural paediatric muscle teaching day. There were c. 45 attendees from

mixture of backgrounds (see attendance list)

Initial feedback was extremely positive with great keenness on the event.

CS – suggestion to add clinical aspects for pathologists.

42

2016: teaching day will have adult focus.

RQ thanked all speakers involved including quiz presentation by AM. Thanks also to secretariat

C Oldfield for organization.

7. AOB

8. Actions:

MH to organize a poll for replacement of R Petty and C Sewry who have stepped down.

Minutes of the 2014 AGM

Wednesday, September 12, 18.50

Agenda

1. Minutes of previous AGM

2. Accounts

3. Secretariat

4. Rules of the Society

5. Council Membership

6. BMS Annual Meeting 2014

Minutes of AGM

1. Minutes of Previous AGM

The minutes of the previous AGM were agreed

2. Accounts

MH reported that the BMS has opened a charity bank account with Barclays

The annuals subs fee remains at £25

There is a 2K positive balance – accounts can be provided upon request

Secretariat is provided by C Oldfield

3. Council membershipCaroline Sewry is standing down from the BMS Council after this meeting

4. BMS membershipIt was suggested that neuropathologists should be encouraged to attend the meetingsThere is a continue interested in recruiting more junior members to the BMS

5. Progress / activity stream reports:The specific activity streams as agreed last meeting have been progressed

Trainee day 2014 – DHJ and SH

Algorithm and App development FM and DHJ

Workforce mapping – RQ and RP

Standards of care – MR

Pathology – CS JH

Training day for trainees: Dr Simon Hammans/ Dr David Hilton-JonesA new training scheme / training day for trainees has started this year. The meeting willalternate bi-annually between adult and paediatric patient myology.

43

This year the event ran from 10am-4pmThe focus was on common human diseasesThe feedback was positive – there is a requirement for training with a clinical / practical ratherthan genetic focusIt was suggested that the following be taken into consideration: avoiding clashes with othertraining courses / event timed to allow people to take study leave / event advertised in goodtime

Workforce planning: Dr Richard PettyA workforce planning survey was carried out by R Petty and R QuinlivanThe initial remit to address retirement dates / numbers required to sustain service was hard tomeet as ’myologist’ was difficult to define due to differing role cross-country, position inpyramid of care and academic v clinician. Also difficult to workforce plan using the BMS as acohort for surveys, as this does not include other clinicians / researchers seeing myologypatients.Of the respondents (around 50% of BMS database), it was expected c. 5 retirements in next 5yrs adult neurology, 11 in next ten years.Service planning and future development will require better definition of ‘myologists’ and thepyramid around and below - most obviously specialist non-medical staff delivering clinics /follow up - NIV / DM1 / MG within Glasgow service - my own view is that BMS should have aview on defining and succession planning services not just Consultant / Professorial jobs but forall of us to decide

Neuromuscular curriculum: Dr Helen RoperHR reported that there is currently no clear / defined training pathway. Currenttraining is via Neurology (adult or paediatric) also Genetics, Rehabilitation medicine,Paediatrics, Neurodevelopmental paediatrics. Identifying interested trainees and matching themto opportunities is currently a challenge, as is workforce planning.The treat-NMD initiative to develop a neuromuscular curriculum was discussed.Ways forward discussed were: Post CCT Fellowship? CCT neuromuscular disorders: adult?Separate CSAC (RCP) / GMC approval /CCT paediatrics (neuromuscular disorders) / separateCSAC (RCPCH)SH reported successful recruitment of a post-cct neurology fellowTime out of programme was flagged as an issue – lead time for applications and Restrictions onusing the neuromuscular training as part of studies was flagged as an issueIt was suggested that ideally the GMC and the RC would allow CCT after 4/5 yrs generaltraining.

Standards of Care: Dr Michael RoseThink about the purpose of the SOCBMS should take into account other bodies before working on SOCSome options include:NICE accredited SOC – NICE set the scope and methodology and give support.NICE adopt an existing SOC - a more independent way of developing an SOCAAN = similar processDevelopment of guidance or manual would allow others to develop an SOC based on thisguidance.

Pathology: Caroline Sewry and Janice Holton

Royal College of Pathologists guidelines on muscle biopsy investigation published 2010, update

imminent

Predicted vacancies: Caroline Sewry to retire

Service provision: Birmingham children’s hospital using the Oxford service. Oswestry – under

discussion

Trainees in neuropathology:

11 neuropathologists in training

44

New curriculum in place

Two training events in 2013 with neuromuscular content (ICH and Plymouth)

Some have attended the Paris Myology course

6. AOB NONE

Minutes of the 2013 AGM

Wednesday, September 18th 8pm

Agenda

1. Minutes of previous AGM

2. Accounts

3. Secretariat

4. Rules of the Society

5. Council Membership

6. BMS Annual Meeting 2014

1. Minutes of Previous AGM

The minutes of the previous AGM were agreed

2. Accounts

Prof Mike Hanna reported that the BMS was running close to break even and that the

AGM this year was part-funded by sponsorship of £2000 from Genzyme

Prof Hanna asked if the £25 membership fee was agreed to continue for 2014. This was

agreed by the AGM.

3. Secretariat

Christine Oldfield was introduced as administrator of the BMS

4. Rules of the Society

MH reported that following the 4th Sept Council Meeting, which all Council members

attended, rules changes were to be put forward as follows:

1) Rules will be changed to reflect that there will be council members with responsibility in

each of the following areas:

Trainee day 2014

Algorhythm and App development

Workforce mapping

Standards of care

Pathology

2) Rules will be changed to reflect the importance of PPI to be co-opted onto subgroups

3) Council members will be able to sit for 5 years rather than 3 and that 2 consecutive terms

may be served.

All rule changes above were agreed.

5. Council Membership

There were no changes in Council membership this year

6. BMS Annual Meeting 2014

Mike Hanna invited all members to suggest a new meeting location

Mike Hanna invited all members to offer to take on organization and hosting of the

meeting, nothing that the organizing parties would need to provide secretarial support

for the meeting organization.

Provisional dates for next year’s meeting were given as 11/12th September, with the

possibility of running the meeting back to back (with some overlap) with the University

45

of Oxford muscle meeting. It was agreed this would be the broad plan if no alternative

proposed in next three weeks.

MH reported that the Council had discussed adding a training day to the BMS annual

meeting.

7. AOB

In addition to the above, MH reported the following items as points of discussion from

the BMS Council meeting of Sept 4th

o There was interest in recruiting more junior members to the BMS

o David Hilton-Jones mentioned looking further into developing an algorhythm for

managing myasthenia, to be made into an app for trainee / junior neurologists.

FM suggested liaison with the Jane foundation as they had something similar for

congenital myopathies.

o MH reported that Michael Rose had raised the issue of developing Standards of

care.

o Neuromuscular training curriculum

o Ros Quinlivan mentioned investigation of Manpower in terms of trainees and

neuromuscular services – Katie Bushby reported that some work had already

been done by TreatNMD using existing European and US work and that it would

be interesting to look at getting this work used more widely by Universities and

Colleges

o MH reported that the council would meet again in 4 or 5 months.

Minutes of the 2012 AGM:

Wednesday, September 5th 1.40pm

Agenda

1. Minutes of previous AGM

2. Accounts

3. Rules of the Society

4. Council Membership

5. AOB

Minutes of AGM

1. Minutes of Previous AGM

The minutes of the previous AGM were agreed

2. Accounts

Prof Mike Hanna reported that in the first few years the BMS ran at a loss and was

underwritten by the MRC Centre. Members then later agreed a £25 membership fee and

a meeting fee which together cover the cost of running the meeting.

Prof Hanna asked if the £25 membership fee was okay to continue for 2013. This was

agreed by the AGM.

3. Rules of the Society

There were no changes to the rules for 2012-13

4. Council Membership

Those council members standing down were thanked for their efforts in support of the

BMS.

Mike Hanna formally welcomed new council members Simon Hammans and Ros

Quinlivan.

5. AOB

46

Mike Hanna added that the BMS Council’s main responsibility is the planning of the

annual meeting. The aim for the meeting continues to be that it remains useful to

clinicians and scientists working in neuromuscular diseases, and to update and inform

them on commissioning and clinical practice.

David Hilton-Jones agreed to continue as the BMS’s sponsor in Oxford.

Mike Hanna invited all members to suggest a new meeting location.

Ros Quinlivan asked if the BMS has a strategy for inviting new members.

Mike Hanna responded that it would be very helpful if all members let any colleagues

who weren’t current members know about the Society

Mike Hanna added that the society has a public website.

Minutes of the 2011 AGM:

8.15pm, 7th September, St Anne’s College Oxford

Apologies

Doug Turnbull, Doug Wilcox, Kate Bushby, Francesco Muntoni

Present

Mike Hanna, David Hilton-Jones, Helen Roper, Janice Holton, Peter Baxter, Caroline Sewry, Nick

Gutowski, Paul Maddison, Cheryl Longman, Matt Parton, Fiona Norwood, Richard Petty,

Margaret Phillips, Heinz Jungbluth, Rita Barresi, Richard Orrell, Elizabeth Wraige, Lucy Feng,

Stefan Spinty, Georgina Burke, James miller, Adnan Manzur, Aleksandar Radunovic, Chris

Turner, Rahul Phadke, Ros Quinlivan, Max Damian, Charlotte Dougan, Jennifer Dunne, Waney

Squier, Yvonne Robb, Mark Rogers, Simon Hammans, Stephanie Robb.

Minutes of the 2010 AGM:

These were accepted as a correct record of the meeting.

Charitable status confirmed

The BMS has been successfully registered as a charity with the Charity Commission. The Charity

Commission require that the BMS holds an AGM. The main advantage of charity registration is

the VAT exemption which will reduce the cost of annual meeting registration for delegates, and

gives the BMS status as a legal entity.

Accounts

At the 2010 AGM it was agreed that a small membership fee of £25 would be introduced, which

has now been implemented. In previous years the annual meeting ran at a loss which was

absorbed by the MRC Centre for Neuromuscular Diseases, but the BMS is now in balance, as

costs have been covered by the membership fee, registration fees and Genzyme sponsorship.

Joint Neuroscience Council & links to other professional organisations

Links have been formed with the ABN (David Hilton-Jones is Chair of a sub-committee), and the

BMS is now a member of the Joint Neuroscience Council, an umbrella organisation of

neuroscience organisations which has now been running for five years. It was reported that

Francesco Muntoni has made links with the British Paediatric Neurology Association. Caroline

Sewry and Janice Holton have made links with the British Neuropathology Society which will be

strengthened as Janice will soon be more involved with training-related matters.

Re-elections

A Doodle vote was undertaken after last year’s annual meeting as to whether we should

continue to hold the meeting in Oxford, and it was agreed that this should be the case until at

least 2012. It was agreed that in future years the annual meeting could rotate around the

country. It was agreed that Council membership would be discussed separately, and that Mike

Hanna would write to the eleven members to see if they wished to remain on the Council after

47

their first three-year term. Mike Hanna will inform members of any changes in personnel.

Caroline Sewry suggested Federico Roncaroli as he is strongly involved with neuropathology

training.

Date of next year’s meeting

The 2012 annual meeting will be held around this time of year. Mike Hanna agreed to take on

board the fact that the 2011 annual meeting had an intense programme on the first day. The

meeting will start at around 3pm and finish at 6.30pm with more time prior to dinner.

CPD Approval

The 2011 meeting has been recognised by the RCP for CPD approval, and Zoë Scott will email

certificates of attendance after the meeting.

AOB

None

Minutes of the 2010 AGM

8pm, 2nd September, St Anne’s College Oxford

Apologies

Doug Turnbull, Peter Baxter

Present

Mike Hanna, Caroline Sewry, David Hilton-Jones, Douglas Wilcox, Helen Roper, Janice Holton,

Kate Bushby, Michael Rose, Francesco Muntoni, Robert Meadowcroft, Rita Barresi , Jackie

Palace, Bobby McFarland, Mark Roberts, Chris Turner, Adnan Manzur, Stephanie Robb, Heinz

Jungbluth, Marianne de Visser, Alexandra Crampton, Nic Bungay, Edmund Jessop, Russell Lane,

Matt Parton, Ingrid Mazanti , Andria Merrison, Imelda Hughes, Richard Charlton, Bryan Lecky,

Richard Petty, Ros Quinlivan, Richard Orrell, Margaret Phillips, Gabriel Chow, Cathy White,

James Miller, Stefan Spinty, Alison Wilcox, Charlotte Dougan, Lucy Feng, Aditya Shivane,

Elizabeth Wraige, Marita Pohlschmidt, Simon Hammans, Georgina Burke, Fiona Norwood, Jacob

Joseph, Kelvin Poulton, Nick Gutowski, Lyn Inman, Reghan Foley, Hector Chinoy, Peter Lunt,

Petra Kolditz, Ann Mathew, Yvonne Robb, Elizabeth Curtis, Zoë Scott, Stefen Brady, Sarah

Finlayson, Marcio Neves Cardoso, Sebahattin Cirak, Wojtek Rakowicz, Valeria Ricotti.

Minutes of the 2009 AGM

These were accepted as a correct record of the meeting.

BMS organising group

It was agreed that the current organising group will continue to run the BMS. The Chair will ask

members for an expression of interest for Council membership, which will be conducted by an

internet vote.

Accounts

The publication of accounts is a requirement for charities. The BMS made a loss of around £800

from the first annual meeting, which was covered by the UCL MRC

Centre for Neuromuscular Diseases. Mike Hanna is keen to keep the BMS financially sustainable,

and Genzyme agreed to sponsor this year’s annual meeting. However it was proposed that it

would be reasonable to consider charging a small membership fee. Douglas Wilcox stated that

other professional organisations have a subscription, and this would help the society lessen its

dependence on external sponsorship. The Chair proposed a vote of an annual membership fee

of £25 – all present were in favour.

Oxford Summer Muscle Meeting

Mike Hanna stated that he has discussed the opportunity to link the BMS annual meeting with

the Oxford Muscle Symposium held each July. It has become clear that the two meetings have

different aims. The Muscle Symposium Oxford has an international focus and presents

48

interesting cases, whereas the BMS is more UK-focussed, bringing British clinicians together to

discuss UK commissioning. It was agreed that trying to merge these meetings would be

impractical.

AOB

None

Minutes from 2009 AGM

7.45pm, 2nd July, St Anne’s College Oxford

Present

Council

Peter Baxter Northern General Hospital, Sheffield

Kate Bushby University of Newcastle

Michael Hanna Institute of Neurology, UCL

David Hilton-Jones University of Oxford

Janice Holton Institute of Neurology, UCL

Francesco Muntoni Institute of Child Health, UCL

Helen Roper Birmingham Heartlands Hospital

Michael Rose King’s College Hospital

Caroline Sewry Institute of Child Health, UCL & RJAH, Oswestry

Doug Turnbull University of Newcastle

Douglas Wilcox University of Glasgow

Members

Rita Barresi University of Newcastle

Charlotte Brierley University of Cambridge

Richard Charlton Newcastle University Teaching Hospitals

Gabriel Chow University Hospital, Nottingham

Angus Clarke Cardiff University

Elizabeth Curtis University Hospitals Birmingham NHS Trust

Max Damian University Hospitals of Leicester

Nicholas Davies University Hospitals Birmingham

Yvette Easthope-Mowatt RJAH, Oswestry

Michael Farrell Beaumont Hospital, Dublin

Maria Farrugia Ninewells Hospital, Dundee

Jane Fenton-May University Hospital Wales

Robert Griggs University of Rochester

Nick Gutowski Peninsula Medical School

Simon Hammans Wessex Neurological Centre, Southampton University

Louise Hartley University Hospital of Wales, Cardiff

David Hilton Derriford Hospital, Plymouth

Thomas Jacques Institute of Child Health, UCL

Jacob Joseph Royal Preston Hospital

Heinz Jungbluth Evelina Children’s Hospital

Russell Lane Imperial College

Anirban Majumdar North Bristol NHS Trust

Roger Malcolmson Birmingham Children’s Hospital

Emma Matthews Institute of Neurology, UCL

Adnan Manzur Great Ormond Street Hospital

49

Andria Merrison University of Bristol

Rhiannon Morris University of Cambridge

Fiona Norwood King’s College Hospital

Richard Orrell Institute of Neurology, UCL

Matt Parton National Hospital for and Neurosurgery

Richard Petty Southern General Hospital, Glasgow

Margaret Phillips Derby City Hospital, University of Nottingham

Simona Portaro Institute of Neurology

Kelvin Poul