GAU Newsletter July2009:Layout 1 - Gaucher ... Front page photo ... The drug being tested is Ambroxol which has been in use since the 1970s as an over-

Gauchers NEWSJULY 2009 ASSOCIATION

Students raise money for Gauchers Association

Visit Gauchers News online at www.gaucher.org.uk

2009 LondonMarathon report

GAU_Newsletter_July2009:Layout 1 22/6/09 15:12 Page 1

GauchersNEWS2 JULY 2009

Lysosomal Storage Disorder Centres

Addenbrooke’s HospitalHills Road, Cambridge CB2 2QQHead of Clinic: Prof Timothy CoxTel: 01223 336 864Fax: 01223 336 846National Helpline: 01223 216 295

Birmingham Children’s HospitalSteelhouse Lane, Birmingham B4 6NHHead of Clinic: Dr Chris Hendricksz, Dr Anupam ChakrapaniTel: 0121 333 9999Fax: 0121 333 9998

Great Ormond Street Hospitalfor Sick ChildrenGreat Ormond Street, London WC1N 3JHHead of Clinic: Dr Ashok VellodiTel: 020 7405 9200 (ext. 0075)Fax: 020 7813 8258

Hope HospitalDepartment of Lysosomal Storage DisordersHope Hospital, Stott Lane, Salford, Manchester M6 8HDHead of Clinic: Dr Steve WaldeckTel: 0161 206 4365/1419/1080Fax: 0161 206 4036

National Hospital, LondonCharles Dent Metabolic Unit, Box 92, National Hospital for Neurology and Neurosurgery,Queen Square, London WC1N 3BGHead of Clinic: Dr Robin LachmannTel: 020 7837 3611Fax: 020 7209 2146

Royal Free HospitalPond Street, London NW3 2QGHead of Clinic: Dr Atul MehtaTel: 020 7830 2814Fax: 020 7830 2313

Royal Manchester Children’s HospitalWillink Biochemical Genetics UnitHospital Road, Manchester M27 4HAHead of Clinic: Dr Ed WraithTel: 0161 922 2137 (9am–5pm)Fax: 0161 922 2137Helpline: 0161 794 4696 (out of hours)Ask for the metabolic consultant

Front page photo (top to bottom): Students from Wigan and Leigh College, Division of Business and ITpresent Tanya Collin-Histed with a cheque following their fundraising events (see page 7 for full article);Dan and Jake Britten celebrate after completing the London Marathon (see page 8 for full article).

Published by Gauchers Association, 3 Bull Pitch, Dursley, Gloucestershire, GL11 4NG Tel: 01453 549231 • Email: [email protected] • Website: www.gauchers.org.uk

The Gauchers Association Limited – Registered Charity No. 1095657 Registered in England and Wales number 4468323 at the above address

Edited by: Tanya Collin-Histed • Chairman: Jeremy Manuel OBE Executive Director: Tanya Collin-Histed • Treasurer: Don Tendell Board of Directors: Jeremy Manuel, Tanya Collin-Histed, Don Tendell, Sue Noe, Alan Rosen

© Gauchers Association 2009

Chairman’s ChatDear Friends,

Welcome to the July 2009 edition of GauchersNews. This edition is a mixture of stories and reports. It brings a personal story of a parent ofGaucher child and sadly reports of the deathsof young Patrick Zaki and of Gaucher campaignersCarmen Martell and Mark Freedman. It also reports

on the marvellous and much needed fundraisingefforts of members and friends including groups of students and our magnificent marathon runners.

This edition includes updates from the Royal Free, details the revisednational guidelines for type three Gaucher patients and announces theestablishment of the clinical study group for Inherited Metabolic Disorders.We are also delighted to announce the appointment of the first recipientof the Susan Lewis Memorial Award and to invite nominations for the sixthAlan Gordon Memorial Award. In addition there is news of ongoing scientific,a research, investigator initiated study and ‘off licence’ use of a potentialnew therapy.

In the last 18 years together we have built an organisation which seeksto give help and support to the individual Gaucher patient and representall Gaucher patients to Health Authorities, doctors, medical and scientific institutions and to industry. There is still much work to do. Together weneed to re-double our efforts in supporting the doctors and scientists whoare seeking to address unmet medical need. We need to encourage moreresearch into those manifestations of the disease which are less well understood and we need to ensure that the excellent service that Gaucherpatients enjoy in the UK by virtue of the national designation of the LysosomalStorage Disease Centres remains unchallenged. Of course we also need,in these difficult economic times, to raise funds to enable us to carry outour vital work.

For this reason we are reviewing our management structure and togetherwith the board are looking to involve members their family and friends inthe various facets of our work. Do volunteer by calling or emailing Tanyaand together we can build an even stronger association.

With good wishes.

Jeremy


www.gaucher.org.uk

not going to reach us. It is extremely difficultbut we are doing everything we can. Vasa isrestless and always running after his soccerball. We would love to be able to watch himgrow up, start going to school, fall in love...”

It’s astonishing how much strength thismother has. This was our first impressionwhen we met her and which was clearlyconfirmed when we first spoke with her.

Kristina adds the final word; “We keepsending letters to government officials andother prominent politicians, all in hope thatone day, Cerezyme will find its place on thepositive list of medicines in Serbia.”

Every year, Serbian weekly magazine ‘Blic Zena’ searches for their Woman of the Year. This is a publiccompetition, and readers from all over the country are invited to submit their own personal stories to showtheir strengths, experiences, determination and bravery in the face of extreme hardship. The purposeof the competition was to find the most extraordinary woman in Serbia. The Woman of the Year for 2008was Kristina Vasic. This is her story (translated from Serbian) –

“I want to dance atVasa’s wedding…”

“We would love to be able to watch him grow up, start going to school, fall in love...”

In order to continue to live a normal life,Vasa requires infusions of US-producedCerezyme every two weeks at a cost of $800– approximately £690 – per 200U bottle.With an average monthly wage of almost$400 in Serbia, these infusions can quicklybecome prohibitively expensive.

“Vasa’s life depends on this medicine.If he continues to receive regular therapy,he will be able to live a normal life, just likeother children of the same age. However,due to the instability of the health systemand the political upheaval in our country,we always worry that humanitarian aid is

Twenty-three year old Kristina Vasic fromIrig, a small town in northern Serbia has afour-year old son who has been diagnosedwith Type 3 Gaucher disease. She told us,“I will never forget the day when one ofthe doctors finally informed me about thedisease Vasa suffers from.”

Vasa was born a healthy child, howeverafter eight months, he suddenly lost hisappetite. He appeared to get progressivelyweaker, but unfortunately, nobody was ableto determine what was wrong with him.

“I refused to believe it when we weretold there was no treatment or therapy forhim. We travelled to the hospital in Novi Sad– just north of Irig – and we stayed therefor two days while the doctors performedadditional tests and made their assessments.After their evaluations were complete, theytold us that they didn’t know what was wrongwith our Vasa. We were devastated.”

Gaucher disease is very rare and thereare only nine children in Serbia who haveit. The disease develops due to the lack of one enzyme, and the only solution istherapy that provides this missing enzyme.Vasa and Kristina, along with her husbandDejan, travelled south to Belgrade to theInstitute for Mother and Child with no doctors’prescriptions and no connections with clinicsin order for him to receive the diagnosisand therapy that was so vitally importantto him.

“Since physicians confirmed the diagnosisand he started to receive Cerezyme throughECAP (European Cerezyme Access Programme)my son is alive again. He is a completelydifferent boy now. His appetite is back andhe has started to develop again...”

Kristina Vasic and her family enjoy the Balkans Patient Day in Ohrid, Macedonia in May

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4 JULY 2009GauchersNEWS

‘We are delighted that the Gauchers Association has agreed to provide supportfor this work which has enabled Dr Larisa Mihoreanu, who works in my blood-brainbarrier research group at Kings, to complete a study of the mechanism of brainpenetration by this substrate reducing drug.

Although previous studies have suggested that Zavesca does enter the brainfrom an oral dose, surprisingly, the mechanism of brain penetration had not beeninvestigated. The current study has produced the unexpected finding that althoughZavesca does enter the brain, it does so much more slowly than would be predictedfrom a study of its chemical structure. Also using a human blood-brain barrier cellline the research has shown that Zavesca can concentrate inside the cells of thebarrier and once inside the cells leaves more slowly than it entered. This retentionin the cells may be due to a mechanism referred to as ion trapping and this is beinginvestigated further.

The current study is important because once the mechanism of cell uptake and brainentry of Zavesca is fully understood, then new second generation substrate reductiontherapies, with a better and more efficient brain penetration, can be designed anddeveloped by using the knowledge to guide the medicinal chemists.’

Zavesca uptake into the brainFunds raised by two families with children with neuronopathic Gaucher disease have been awarded tosupport work being undertaken at Kings College to complete a study on Zavesca uptake into the brain.Dr David Begley from Kings College, London reports on this study –

Dr Larisa Mihoreanu

The drug being tested is Ambroxol whichhas been in use since the 1970s as an over-the-counter oral treatment for respiratorydisorders associated with viscid or excessivemucus.

There are no absolute contraindications,although it may be advisable to avoid useduring the first trimester of pregnancy. It isrelevant to add that Ambroxol has been administered successfully intravenously topregnant women whose infants were atrisk of respiratory distress syndrome and inpremature babies with Acute Respiratory

Distress Syndrome in relatively high con-centrations without adverse sequelae.

Ambroxol and Gaucher disease

Although enzyme replacement therapy (ERT)is still the standard of care for Gaucher disease, there is considerable interest insmall-molecule-based enzyme enhancementtherapy (EET) which may be taken orally andcan be used as stand-alone therapy or inconjunction with ERT.

Dr. Don Mahuran of the Hospital for SickChildren in Toronto, Canada, has identifiedthis expectorant, Ambroxol, as a candidatemolecule because of its ability in the laboratoryto enhance mutated enzyme activity incells from patients with various mutations.ExSAR Corporation, based in New Jersey,USA, has the (used patent) rights for thisdrug, however, the drug for the current studywas bought from the local pharmacy usingan off-label indication.

Ambroxol is an ideal option for small-molecule therapy for Gaucher disease because of its decades-long experience inthousands of people of all ages includingpregnant women and babies, without anyserious untoward reactions. In some animalstudies, there are hints that Ambroxol maypass the blood-brain barrier but at thispoint, the pilot is confined to patients withType 1 Gaucher disease.

The Gaucher Clinic in Jerusalem is dedicated to assessing the safety and efficacyof Ambroxol in this small pilot which is inpart being supported by the National GaucherFoundation (NGF), with the intention of expanding into a full clinical trial shouldthere be positive signals at the end of thesix-month study. Moreover, if successful inameliorating visceral and hematologicalparameters of Gaucher disease, Ambroxolmay have potential benefit for patientswith Type 3 Gaucher disease.

Ambroxol: Investigator initiated pilot study for patients with type 1Gaucher diseaseProf Ari Zimran and Dr Debbie Elstein of the Shaare Zedek Medical Centrein Jerusalem, Israel, have embarked on an Investigator-initiated pilotstudy for type 1 Gaucher disease. Here, Dr Debbie Elstein reports onthe study –


www.gaucher.org.uk

‘To date, therapeutic efforts towards treat-ment of Type 2 – or neuronopathic – Gaucherdisease remain without reward. It has provedimpossible to prevent or reverse the mostlethal aspect of this disease, which is thedamage it does to the brain’.

‘Gene therapy is one of several optionsthat researchers are exploring and whichmight, one day, provide a form of treatmentfor this disease. Gene therapy is a relativelynew field of medicine where genes, ratherthan proteins or drugs, are delivered to thedamaged cells and tissues to provide avery long-lasting treatment. However, anobstacle to the treatment of neuronopathicGaucher disease is that the gene delivery

vehicles (‘vectors’) have not been able topass from the bloodstream into the brain’.

‘Here at the Royal Free, our expertise liesin the very early treatment of mouse modelsof genetic diseases using gene therapy,and we collaborate with obstetricians atUniversity College London and at ImperialCollege. We were able to inject genes intofoetal mice to cure a model of haemophiliaB, and since then, we have been exploringhow we might use this technology for moreserious and incurable diseases. We decidedthat a good target would be Type 2 Gaucherdisease so we have been developing genetherapy vectors – the vehicles used to deliverthe genes – and have seen long-lasting

expressions of marker genes after injectioninto the brains of foetal mice. We have received a mouse model of Type 2 Gaucherdisease from Professor Stefan Karlsson inSweden and aim to try to cure these miceby delivering glucocerebrosidase to theirbrains by in utero gene therapy’.

‘Recently, a paper was published showingthat a very specific gene therapy vector, called‘AAV9’ can deliver genes to the brain of adultand neonatal mice after intravenous injection.This is very exciting as intravenous injectionis much more clinically acceptable than directinjection into the brain and we would liketo confirm these results and improve uponthem by injecting them into the circulationof foetal mice. If this works, we would like touse this vector and injection route to attemptto cure the Type 2 Gaucher mice by in uterogene therapy. The most expedient way ofgetting very good quality AAV9 is by buyingit from an academic ‘core’ facility in the UnitedStates. A batch would be sufficient for usto complete all the preliminary experiments onin utero brain targeting (we will inject themwhile they are still in the womb as we havedone previously with other mouse models)’.

‘We are extremely grateful to the GauchersAssociation and the family of Ellie Carterwho have given us a grant to purchase abatch of these vectors to support our work.Ellie Carter died in 2004 aged seven monthsfrom Type 2 Gaucher disease. In memory ofEllie, her parents Jill and Ian, set up ELF, theEleanor Lily Foundation, to raise funds togo towards research into understandingmore about Type 2 Gaucher disease’.

Gene therapy research in Type 2Gaucher diseaseThe Gauchers Association has awarded a grant from funds raised bythe Eleanor Lily Foundation to The Royal Free Hospital in London topurchase a batch of viral vectors for use in their gene therapy re-search in Type II Gaucher disease. Simon Waddington, a Senior Re-search Fellow in the Department of Haematology at the Royal FreeHospital in London describes the work being carried out –

Fathers of Kings CliffeThe Gauchers Association would like to thank the Fathers of Kings Cliffe who generously donated £1,500 to the Association in memory of the late Tom Downes. The Fathersof Kings Cliffe are a group of dedicated men who met in theirlocal village pub in 2005 and the only thing they had incommon was that we were all fathers of children who attended the Kings Cliffe Endowed School in Peterboroughand all wanted to raise money for charity.

In June 2005, they held their first event in aid of Marie Curie Cancer Careand raised such an incredible amount of money they became hooked onfundraising. Each year, they organise events in the community and distributethe money to local charities and to charities that are close to their hearts.To date, they have raised almost £22,000 and continue to give their timeand effort. For more information, and to read their incredible story, take afew minutes to visit www.fokc.org.uk to see the fantastic work they do.

5GauchersNEWS

Gary Homewood presents Tanya Collin-Histed of the Gauchers Association with a cheque for £1500


6 JULY 2009

The B4B taskforce was founded in March2007 as a research group formed by inter-national specialists and leaders on clinicaland basic research in the field of neuro-pediatrics and neuroscience.

The group has attracted interest frommajor biotech companies working on thedevelopment of new therapeutic strategiesfor lysosomal diseases. It also has a stronginteraction with international family asso-ciations involved in taking care of the needsof lysosomal patients, and has stimulatedcollaborations toward coordinate actions todisseminate knowledge about the diseases.

The task force takes advantage of theexpertise of some of the most distinguishedscientists in Europe. Leaders in basic andapplied neurotechnology and neurologygrouped together to create a coordinatedeffort toward the comprehension of the patho-physiological processes of the neurologicaldisorders, the implementation of knowledgeon the blood brain barrier and the develop-ment of new molecular and/or biochemicalstrategies to overcome the blood brain barrierand treat neurological disorders.

At the meeting, a number of presentationswere made on topics related to Gaucherdisease. These have been summarised below:

Pathophysiological Insights As AKey To Therapy Development ForLysosomal Disease by StevenWalkley, Department of Neuro-science, Albert Einstein Collegeof Medicine, New York, USA

Lysosomal diseases are complex geneticdisorders caused by defects in proteins essential for normal lysosomal function thataffects many tissues, organs and the brain.Due to the complexity of events that unfoldin the cells in the absence of the diseasespecific proteins, the downstream pathwaysremain poorly understood.

Current evidence suggests that braindysfunction in these diseases may be accompanied not only by lysosomal storage,but also by a number of other mechanisms,such as signalling problems within cells;stress in the ER (endoplasmic reticulum)due to misfolded proteins that are unable totravel to the lysosome; calcium homeostasis

(change in its balance); and blockages ofpathways and processes.

Understanding the pathogenesis (step bystep development of a disease) of lysosomaldisease can provide essential insights fornew therapeutic advances.

Interaction Between Parkin AndGlucocerebrosidase: A PossibleLink Between Parkinson’s Diseaseand Gaucher Disease by MiaHorowitz, Tel Aviv University, Israel

A connection between Gaucher diseaseand Parkinson’s disease has been shownby the concurrence of Gaucher disease andParkinson’s disease in patients, and theidentification of glucocerebrosidase mutationsin a group of patients with sporadic Parkinson’sdisease.

One of the genes in Parkinson’s diseaseis parkin, which is an enzyme that mediatesdegradation of proteins and its loss leadsto accumulation of its substrates. Parkinfunctions in the ERAD (endoplasmic reticulumassociated protein degradation) of misfoldedER protein, and it is up regulated (increased)by unfolded protein stress.

Tests were carried out to look at thepossibility that the concurrence of Gaucherdisease and Parkinson’s disease is due toparkin being involved in the degradation ofthe misfolded glucocerebrosidase proteinin Gaucher disease. The tests showed that theN3070S mutant glucocerebrosidase variantassociates with parkin and it is thereforesuggested that this explains the concurrenceof Gaucher disease and parkinsonism.

Enzyme And Substrate ReductionTherapy Of Neuronopathic Lyso-somal Storage Disorders by SengCheng, Group Vice President,Genetic Diseases Science, Gen-zyme Corporation, USA

Whilst ERT is effective at treating the visceraldisease associated with lysosomal storagedisorders, this approach does not address

the central nervous system (CNS) component.Therefore, there is a need to investigate alternate delivery strategies such as directadministration of the enzymes into the CNSand evaluate other technology platforms,including small molecule drugs.

Experience with intracerebroventricular(direct injection into the brain) administrationof recombinant acid sphingomyelinase (themissing enzyme in Niemann-Pick A and B) intothe CNS of a Niemann-Pick A mouse showedthat this route of delivery could result inbroad dispersion of the therapeutic enzymethroughout the CNS.

Near global correction of the storagepathology was realized in the CNS of thetreated mice with consequent improvementin motor function. Amounts of enzyme werealso detected in the serum (blood) with partialcorrection of the visceral disease suggestingthat direct and periodic delivery of enzymeinto the brain may be an approach to treatingthis disease.

These observations have been extendedto mouse models of late infantile Battens andneuronopathic Gaucher disease, suggestingthat this therapeutic paradigm may be broadlyapplicable to other lysosomal storage dis-orders. Intracerebroventricular delivery ofthe respective lysosomal enzymes into thesemice reduced the levels of the offendingsubstrates in the CNS with consequent improvement in motor behaviour and a notable extension of their life span.

As the therapy is invasive and chronic,we have evaluated the potential of substratereduction therapy in the management of asubset of these neuropathic lysosomalstorage disorders. Earlier pre-clinical studieshave indicated that small molecule inhibitorsof glucosylceramide synthase could representanother approach to treat the glycosphin-golipidoses. While the orally available inhibitor (GENZ 112638) that is presently ina clinical trial in non-neuropathic Gaucherpatients is incompatible for delivery to theCNS, other chemical scaffolds are being ex-plored that may be more conducive to crossingthe blood brain barrier. Oral administrationof one such inhibitor (GENZ 529648) intoSandhoff mice was effective in delaying theprogression of the disease and extendingtheir life expectancy. Current efforts are directed at determining if these encouragingobservations in the diseased mouse modelsare translatable to larger animals.

Brains 4 Brain (B4B)Tanya Collin-Histed, Executive Director of the Gauchers Association reports on the 3rd Annual B4B meetingthat took place in Frankfurt on the 6th – 8th March 2009 –

GauchersNEWS


www.gaucher.org.uk

The Lysosomal Storage Disorder (LSD) unitat the Royal Free is currently participatingin three clinical trials of new treatments forGaucher disease (with two others waitingto open later this year).

Patients are now moving over into thelong-term extension part of Shire HumanGenetic Therapy’s clinical trial of GA-GCB(Velaglucerase™), a new intravenous enzyme.In another study, other patients are receivingAmicus Therapeutics’ AT2101 (Plicera™) –an oral tablet which is described as a ‘chaperone therapy’.

The centre is also participating in theclinical trial sponsored by Protalix Biother-apeutics, which is a plant-cell derived enzymetherapy – another intravenous drug.

Later this year, Genzyme Corporation

plans to extend its own substrate reductiontherapy programme with clinical studies involving patients that will also involve atreatment using an oral tablet rather thanan infusion.

The first three studies discussed aboveare now well advanced, with some patientsable to receive a significant part of thetreatments at home even though they areparticipating in the clinical trials. This hasbeen possible because the homecare company has provided specialist studynurses to undertake clinical trial visits inthe patient’s home or place of work.

The Lysosomal Disorders Unit has itsown very active internal academic researchprogramme. Dr Rob Ayto, Clinical ResearchFellow in Haematology, is about to enterthe 3rd year of his PhD work exploring the

aetiology of Myeloma in Gaucher disease.He would like to send his gratitude to allthose patients who have provided him withsamples of their blood over the last coupleof years to help support this important work.

Anne Jennings, Clinical Nurse Specialist,has been with the team for some time workingon a part-time basis, and has extended herrole to include the co-ordination of care forthe Royal Free’s current number of Gaucherpatients which has now grown to over 85.She comes from a nursing background inhaematology with several years experience,including time spent at the Royal Marsden,University College and Charing Cross Hospitals.Anne has worked in the Royal Free Haema-tology Day Care services for several years.

Pat Pilgrim has also recently joined theteam. Pat has transferred from The Royal FreePharmacy Department where she played animportant part in supporting the pharmacyassistance for our patients amongst herother duties, and therefore brings with hera great deal of experience. Pat has joined theLSD unit in a new role to provide administrativesupport and to act as a ‘patient helper’. Thisrole is wide ranging and supports the nursingand medical teams in a variety of ways thatenhance overall patient care. This will includehelp with getting medication from the phar-macy, guiding patients to the various departments within this large hospital,booking tests and preparing the medicalrecords before appointments.

Royal Free HospitalGaucher Service –Latest NewsAlan Milligan, Clinical Research Nurse reports –

Lynn Coleman, Trainer Assessor from Wigan and LeighCollege reports on the fundraising efforts of studentswho raised money for the Association –

Students from the college have been involved in a variety of fund raisingevents throughout the year in aid of the Gauchers Association.

The Gauchers Association was chosen by the level 1 Business andAdministration students as one of the students is a member of the Association.To raise funds, the level 1 students made and sold occasion cards andsmall gifts, and retailed their products personally.

All students on the Business Administration course were involved inthe production and distribution of Santa letters, an event that usually generatesexcellent feedback because it brings great joy to the recipients.

Students raise £369 for Gauchers Association

Tanya Collin-Histed presents Karl with a certificate in recognition of his hard work in fundraising for the Association.

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Kate Walsh writes, “When I signed up totake part in this year’s London Marathon,my running history consisted of an occasional10 minute stint on a running machine. Runninglong distances outdoors was completelyalien to me. I was inspired to enter the racefollowing a conversation with a marathonrunner, and was excited about the challengeit would entail and the prospect of raisingmoney for Gauchers. I knew the training wouldbe difficult, but I did not anticipate the achesand pains that I now know to be typical ofmarathon runners!

The night before the race I barely slept.My training had been haphazard due to kneeproblems that were still causing some dis-comfort and I was very anxious. On arrivalat Greenwich, all three of us were desperatefor the loo and were frantically searchingfor the toilets, trying not to use up too muchenergy!

It was a surreal experience being oneof the runners. The spectators were fantasticand offered us everything from pizza to hamsandwiches and a priest even blessed uswith holy water to help keep the spirits up!I was feeling quite popular early on in the race,as everyone seemed to be shouting my name,and then I turned round to see Katie Price(aka Jordan) and Peter Andre amongst the

runners. By mile seven, my right knee wascausing a lot of pain, and I started to havedoubts about reaching the finish line. Thank-fully, I had packed a couple of emergencyAnadin and they did the trick. However, theywere all I had and I knew they were goingto wear off before I finished the race.

I was thoroughly enjoying myself andsoaking up the atmosphere until mile 19when the dreaded knee pain returned and thelast several miles seemed to take forever.However, I clearly wasn’t the only one suf-fering by then – there were many runnerslimping by this point, and it was humblingto see because you could tell from theirfaces that they were not going to give up!This, together with the amazing crowd supportspurred me on, and I finally reached the finishline after 5 hrs 33 minutes – a little worsefor wear, but having had a fantastic daythat was worth the pain!”

Sarah Stansfield reports after her success,“My marathon experience was not quitewhat I had expected. In the months leading upto the marathon, training and fund raisinghad gone well for my sister and me. However,about 4 weeks before the marathon I pulleda muscle in my calf while skiing and my sisterLiz Begley injured her knee quite badly –probably not the most sensible part of ourtraining plan. My injury did not heal as fastas I hoped, so I did very little training in Aprilbut decided to carry on anyway, but sadlymy sister had to defer as she risked doingpermanent injury to her knee.

When I got to the actual day of themarathon I was fairly sure that this was oneof the most stupid things I had ever decidedto do! However, the weather was lovely andthere were some great people in the slowpen at the back of the marathon so I set off.After five miles the muscle in my calf startedto hurt so I decided the only way to get roundwas to walk – which I did very briskly for 21

miles with little bursts of running when Isaw the photographers or my family!

It took me 6 hours, so quite a lot longerthan I had hoped but I had a great day, metlots of lovely people, was cheered on all theway round the course by the brilliant crowdand even managed to overtake Jordan. Myfamily (including my 80 year old parents)gave me amazing support all the way round,seeing me at several spots on the course.My sister supported me all the way eventhough she was unable to do it herself despiteall her hard training so I shall look forwardto supporting her next year.

I am really glad that I managed to completethe marathon for Gauchers as I had a greatday (although I couldn’t walk properly forabout four days afterwards – brisk walkinguses very different muscles from the runningones I used in training). My sister and I hadsome amazingly generous sponsors so feelwe have also managed to contribute in a smallway to the work of the Gauchers Association.”

Nathan Walsh explains, “After discoveringwe had been accepted in October 2008, Ihad not run over one mile in my life, so itwas certainly a big challenge, but soon uppedthe mileage by following training guides.

Friday after arriving in London, it actuallyhit home that we were going to run the LondonMarathon. At registration on the Saturday,I found it extremely well organised, and tobe honest was quite shocked that we didnot need to queue for our numbers whichhelped my nerves about running!

Sunday! Marathon day! A day I will re-member for life! Most of all I would like to

Six runners raise £9,793 for the Gauchers Association in the 2009 London MarathonOver 35,000 people completed this year’s London Marathon. Of these,Sarah, Kate, Nathan, Alistair, Dan and Jake pounded the streets ofLondon on Sunday 26 April for the benefit of the Gauchers Association.Unfortunately, Liz Begley was unable to compete due to a knee injury,but was there amongst 750,000 supporters along the 26.2-milecourse. Below, our runners describe their experiences of the day.

GauchersNEWS

Nathan, Kate and Ali Walsh on the morning of the marathon

Sarah Stansfield (right) and her sister Liz Begley


www.gaucher.org.uk 9GauchersNEWS

comment on the general organisation of themarathon including the travel around thecity, the organisers, and the way the eventwas put together was extremely well done.Having never run any event I wonder if I havenow been spoilt by the London Marathon inthis sense as I was fully expecting chaosthroughout, but instead was pleasantlysurprised. It made running 26.2 miles a loteasier and along with the crowds support-ing, it helped tremendously.

Luckily, the weather was sunny but nottoo hot and we crossed the start line justafter 10am. Alistair was in a separate startgroup and we had decided from the outsetnot to run together. I found the event a loteasier than some of the training I had donedue to the drink stations, the friendly crowdsand general atmosphere, and managed tofinish in 4 hrs 8 minutes, faster than expected!

In fact having such an ego boost I stupidly went for a 10 mile run on the Saturdayafter the Marathon, (not in the training guide!)and for which I now have a limp! I will continuerunning, and all in all I am extremely glad we

got the chance to run the London Marathonand run for the Gauchers charity.

Jacob Britten who ran with his brother Danwrites for both of them. “To say that mybrother Dan and I were overly confident ofan enjoyable run when we woke up to brightblue skies on the morning of Sunday 26thApril would have been a lie. With my brotherhaving picked up a foot injury in the ParisMarathon two weeks previously and me onlyhaving been training for six weeks before-hand as a result of a ligament problem inmy knee, the three-and-a-half hour targetthat my brother had set us before we setoff was somewhat bullish.

It was a beautiful day and the atmospherewas fantastic. The decision to run togetherthroughout worked well to begin with as wecoasted through the first 13-14 miles. Withthe crowd and atmosphere helping us along,our target time was well in reach. Having gotnorth of the river however, my paced slowedand we soon began to fall off our 8-minutemile pace. With no short measure of water,

Lucozade and jelly babies having been takenon board, we eventually crossed the line withvery heavy legs at 3 hours and 38 minutes.

An extremely tough day, but an incredibleatmosphere and a time we were both veryproud of. Most importantly, we raised over£3,850 for the Gauchers Association, athoroughly worthwhile cause that we’resure will benefit hugely from the moneyand the awareness.”

The Association would like to thank all itsmembers, friends and supporters who helpedraise £9,793 for the Gauchers Association.Special thanks go to our runners who endured the 26.2-mile course to help us inour work.

The Association is delighted to announcewe have five Golden Bond places for the2010 London Marathon so if reading thishas inspired you and would like to supportthe Association, please contact eitherTanya or Sarah on 01453 549231 or [email protected].

Diltiazem is a ‘calcium channel blocker’.The walls of blood vessels are made frommuscle cells, which can contract and relaxlike other muscles in the body and thesemuscle cells need calcium to be able tocontract, making the blood vessel narrower.

Calcium passes from the blood into themuscle cells through tiny passages called‘channels’. Calcium channel blockers preventtoo much calcium passing into the musclecells, which in turn stops the blood vesselsnarrowing, increases blood flow around thebody and reduces the rate at which theheart is pumping. Owing to these effects,diltiazem is generally used to treat heartconditions, such as arrhythmia (irregular

heartbeat) and hypertension.Research has now shown that diltiazem

might be useful in treating people with TypeIII Gaucher disease. In Gaucher disease,the enzyme that is produced is defectivebecause it does not fold properly – lysosomalenzymes need to be folded properly to beable to reach the lysosome.

A recent study found that when cells affected by some Gaucher mutations weretreated with diltiazem, enzyme activity in the cell increased, and the researcherssuspected that this was likely to be as a result of improved folding of the enzyme.One of the mutations studied was theL444P/L444P mutation, which is the one

most commonly seen in people with TypeIII Gaucher disease.

The use of diltiazem to treat Type IIIGaucher disease is not currently licensed inthe UK. Medicines are often used ‘off licence’in children because trial data are not availablefor a specific use. Clinical trials will providethis data but are unlikely to happen becausethe slowly progressive nature of Type IIIGaucher disease means that it could takethree to five years to show any benefits.Additionally, newer treatments are beingdeveloped and are placed on trial all thetime, which may prove to be more helpful.If a trial of diltiazem were in progress, patients on such a trial would not be ableto participate in any new trials. Commonside effects of diltiazem are a fall in bloodpressure and swelling of the feet.

At Great Ormond Street Hospital, weare proposing to prescribe diltiazem ‘off licence’ to children with Type III Gaucherdisease after being thoroughly accessed forsuitability, while we wait for new treatmentsto be developed. Prescribing medicines ‘offlicence’ is not necessarily hazardous butshould be explained and agreed before use.

Needless to say, there is no guaranteethat diltiazem will do anything to slow downdisease progression.

The protocol for the use of diltiazem inchildren has been circulated and approvedby all the paediatric NCG centres. The drughas been widely prescribed in adults forthe indications mentioned earlier.

Diltiazem for patients with Type IIIGaucher diseaseDr Ashok Vellodi, Paediatric Metabolic Consultant from Great OrmondStreet Hospital reports on a potential new therapy being given ‘off licence’ to Type III Gaucher patients at Great Ormond Street Hospitalin London –


10 JULY 2009

60-70 people attended the meeting, sponsored by Genzyme Balkans. Busesbrought large delegations of patients andtheir families from Serbia and Bulgaria, andadditionally, there were smaller numbersfrom Albania, Kosovo and Macedonia.

The meeting of Gaucher patients fromthe Balkans coincided with the anniversaryof the founding of the Bulgarian GaucherPatients’ Association. The meeting washeld on the shores of the spectacular LakeOhrid in Macedonia. It’s an old town, calledby many the ‘Jerusalem of Macedonia’.

Macedonia is a new country. It is a successor state of the former Yugoslavia,from which it declared independence in 1991.As a result, the healthcare system is in itsinfancy; prior to 1991 it was completely decentralized, and even now the boundariesbetween primary, secondary and tertiary levelsof healthcare are not well demarcated.

Thanks to Genzyme Therapeutics’ European Cerezyme Access Programme(ECAP), patients across the Balkans arenow receiving treatment. The majority comefrom Serbia and Bulgaria where the healthcaresystems are more advanced and the patientassociations more established. By contrast,the numbers in Albania are tiny, and the situation in Macedonia is still unclear. Theinfrastructure to support ECAP is only justbeginning to take form here, and many ofthe patients were diagnosed years ago andtheir whereabouts are unknown. Severalothers move constantly between Macedoniaand Kosovo due to factors such as politicalupheaval.

Mr Vladmir Tomov, Chairman of the Bulgarian Gaucher Association, who openedthe proceedings by welcoming everyone,chaired the meeting. Dr Ute Stolzle, Vice-President, Genzyme Eurasia also spoke.

The first speaker was Associate ProfessorRadka Tincheva from Sofia in Bulgaria, whogave an over view of Gaucher disease. I thenspoke about Gaucher disease in childrenand then Associate Professor Rumen

Stefanov, also from Sofia, spoke about theset-up for rare diseases in Bulgaria.

After a short break, Dr Stolzle spokeabout the ECAP programme and also aboutGenzyme’s commitment to patients withGaucher disease worldwide.

Dr Radostina Simeonava from Bulgariapresented her work with a novel integrativeapproach. Rather than diagnosis and treat-ment, her team focuses on rehabilitationand reintegration into society, for example,re-employment. It was encouraging to hearthat this unit is funded entirely by the Bulgarian government.

Dr Adrijan Sarajija presented somecases to highlight diagnostic difficulties,and then Professor Muratovska from Skopjepresented a case report and spoke aboutsome of the challenges in Macedonia.

Before lunch, Maryze Schonveld, whosuffers from adult onset Pompe disease,spoke movingly about her ‘journey’ with all its highs and lows, culminating in thedevelopment of Myozyme. Not being satisfiedwith receiving it herself, she has campaigneduntiringly for treatment for fellow sufferers,and gave touching accounts of worldwidesuccess stories.

After lunch, Vladimir Tomov spoke aboutthe work of the Bulgarian Gaucher Associationthat has worked closely with other rare disease groups. It was encouraging formany in the audience, especially those fromcountries with relatively newer healthcaresystems, to see how much progress hasbeen made in Bulgaria.

After the talks, the audience broke upinto three workshops –

• Platforms for Representing Rare Diseases

• How can Patient Groups get what they need?

• How can Healthcare Professionals and patients work together?

After the workshops there was a vote ofthanks and then the conference ended. Inthe evening, there was a bus tour to thecity of Ohrid, followed by a gala dinner.

The meeting was a great success and itwas particularly encouraging, as many hadtravelled long distances to be there and hearabout the progress the Balkan communityis making in the treatment of Gaucher disease.

Balkan patients’ day and anniversary of BulgarianGaucher patients’ meetingOhrid, Macedonia, 22-24 MAY 2009

Dr Ashok Vellodi, Paediatric Metabolic Consultant at Great Ormond Street Hospital, was invited to travel toMacedonia to make a presentation on Gaucher disease in Children. He reports on the day’s events –

Patients, family members, doctors and representatives from Industryat the Balkans meeting in Macedonia

GauchersNEWS


www.gaucher.org.uk

New ClinicalStudy Groupfor InheritedMetabolicDisordersDr Chris Hendriksz, Consultant inClinical Inherited Metabolic Dis-orders at Birmingham Children’sHospital reports on the newClinical Study Group (CSG) forInherited Metabolic Disorders(IMD) recently set-up in collabo-ration with the UK LSD PatientCollaboration Group –

To improve research for patient benefit, theUK has been divided into Clinical Researchnetworks and the individual networks havebeen assigned specific remits.

Due to the diversity and the fact thatmany rare disorders do not fit into one of theallocated groups, it was felt that patientsfrom these groups might lose out.

A specific group was dedicated to dealwith developing research around the use ofmedicines in children and was called theMedicines for Children’s Research Network(MCRN). As this was the only group specificallylooking at the needs of children, it was feltappropriate to approach them about inclusioninto their remit. They were approached, butas adults with rare metabolic disorders onlyform a very small group, their inclusion wasalso requested.

This was agreed on the grounds that aCSG, or clinical specialist group, could beformed if adequate funding could be found tosupport it. The UK LSD Patient CollaborationGroup kindly agreed to fund this group inprinciple for the next two years and willhave a permanent member in the CSG. TheGauchers Association is part of this consortiumand it is hoped that this will lead to new opportunities for research involving patientsaffected by all rare inherited metabolic disorders.

A new development giving even moreopportunities for research was the formationa second group that will be developing studiesbut not dealing with medicine-only studies.This area would look at other research studieslike pharmacovigilance, patient registries,developing new biomarkers or other basicscience projects that will ultimately lead topatient benefit.

This may open the door to some fundingstreams, but more importantly, if studies

are adopted into the network it will qualifyfor research support costs, meaning supportfrom the research network partners likepharmacology, methodology and otherspecialist groups. It will also create trainingopportunities and members will have accessto training programs such as communicationin research, GCP training and other researchrelated modules.

What’s Next?

The post of Chairman for this new CSG forMetabolic Storage Disorders was advertisednationally and I was delighted to be recruitedto the post. The next step is to recruit addi-tional members to the group who will beelected and appointed to form the clinicalstudies group for the next three years. Oncethe members have been appointed they willmeet to develop a research strategy and startto prioritise projects. Only studies that havebeen open to national competition can beadopted but this is unlikely to be a hurdle,as the different units tend to work closelytogether and especially as far as LysosomalStorage Disorders are concerned, nationalcollaboration has been achieved via theNational Commissioning Group system.

You can find more information on theMCRN and the functioning of the clinical studygroups at www.medicinesforchildren.org.uk.They are also slowly starting to build an information database for parents and patients so please feel free to comment orcontribute to any of their calls for help ifyou are able to.

Only if we work together as patients,families, patient support groups and all healthcare professionals will we be able to decreasethe disease burden for rare disorders.

In 2001, the NGD Task Force of the EWGGD(European Working Group for Gaucher Disease) published a set of guidelines forthe management of neuronopathic Gaucherdisease.

It was felt that it was time to reviewand, if necessary, revise these guidelines.Accordingly, last year the group, along withsome outside experts carefully evaluated

the existing data and drew up a revised setof guidelines that have now been submittedfor publication. However, the most importantone relates to the use of high doses of enzyme replacement therapy, 120 units/kg/2 weeks.

The new guidelines, which have beenapproved and adopted by the NationalCommissioning Group (NCG), are as follows:

• In children with chronic neuronopathicGaucher disease (nGD), as soon as possibleafter diagnosis, Enzyme Replacement Therapy(ERT) should be commenced in a startingdose of 60 U/kg of body weight every 2 weeks.• The dose may need to be increased fromtime to time as necessary to control visceraldisease. Examples are increases in hepato-splenomegaly, exacerbation of pulmonarydisease or unexplained systemic symptomssuch as malaise or irritability accompaniedby a significant deterioration in biomarkerssuch as chitotriosidase activity. However, itshould not be allowed to fall below 60 units/kg/2 weeks.• In adults, a dose of 30-60 units/kg/2weeks should suffice, as visceral stabilitywas demonstrated at this dose. • ERT cannot be recommended for patientswith acute neuronopathic GD (Type 2).

Revised guidelines forType III Gaucher diseaseDr Ashok Vellodi, Paediatric Metabolic Consultant at Great OrmondStreet Hospital reports on the revised guidelines for treating patientswith Type III Gaucher disease –

11GauchersNEWS

Dr Chris Hendriksz


12 JULY 2009

Patrick ZakiPatrick Zaki, son of Naser and Edyta and twin brother of Elya, diedsuddenly in his sleep on 29 January 2009 aged just four. Patrick hadType III Gaucher disease.

Talking about his son, dad Naser explains, “Edyta and I feel that if anyfurther understanding of the diseaseand its management can be gained fromthe tragic death of our son Patrick, thenwe will do whatever we can and havegiven our permission for Patrick’s tissuesand samples to be used for research.

“We are still unsure about why ourson died. We feel that Patrick may havehad a seizure, but post-mortem reportsshowed massive haemorrhaging (bleeding)in Patrick’s lungs that also contained alot of Gaucher cells. We believe this high-lights the need for further research andhighlights the added importance of monitoring lung disease in Gaucher disease closely.

“A few months later, in April, Elya, Patrick’s twin brother suffered a near fatal seizure,also while sleeping. We discovered him blue and not breathing, but we were able to resuscitatehim and he was hospitalised. As a result, Elya now has a saturation monitor at home andthis monitors him whilst asleep. This simple piece of equipment has given us the reassurancethat he is safe at night and if his oxygen levels fall, an alarm goes off and alerts us. As forElya, we are still not sure if the seizure stopped him from breathing or because he stoppedbreathing it triggered the seizure.

“Patrick is now in a better place with Jesus and the angels where there is no pain or suffering.He is always in our thoughts and will be in our hearts forever until we meet him in heaven.”

The Zaki family at the nGD Family Conference in November 2008

GauchersNEWS

Carmen MartelDr. Raul Chertkoff, the Medical Director of Protalix Biotherapeutics inCarmiel, Israel, reports on some sad news for the Gaucher community –

Carmen Martel, a one-time President of theSpanish Gaucher Association passed awaysuddenly in May, leaving her family, and all ofus in the Gaucher community, deeply saddened.

I met Carmen in 2000 in Jerusalem, when sheattended the EGA and EWGGD meetings we or-ganized in Israel and as we connected, we de-veloped a real friendship. Carmen was a Gaucherpatient living in Gran Canaria in Spain. With thehelp of her family, Carmen successfully oversaw

the Spanish Gaucher Association, taking care ofthe needs of patients all over Spain. I visited her during several patients meetings and I always learnt something new from her.

Carmen was a nurse by profession. Her empathy and skills helped people open up toher and she took great care of everybody she met.

Her sister, Pino, informed me of her tragic death and her despair was evident when shewrote, “Carmen was the pillar of the family, what we will do now?” All those who knew Carmenwill sorely miss her. Rest in peace.

Mark FreedmanWrites Jeremy Manuel:

I am sorry to report that Mark Freedman,Chairman of the Canadian Gauchers Asso-ciation died on 9 May in Toronto. Mark was55 and was a highly respected propertylawyer who together with his wife Judyfounded the National Gaucher Foundationof Canada.

I first met Mark and Judy (together withSusan Lewis) in Amsterdam in April 1992.The previous year Genzyme had obtainedapproval from the FDA for their new enzymereplacement therapy and they brought together treating physicians from aroundthe world and patient representatives totalk about this new treatment. Mark wascharming and driven and we all becamecolleagues and friends.

The Canadian Foundation adopted theslogan “Daring to Dream”. The dream ofcourse was to achieve access to treatment forGaucher patients. Mark lead the Foundationwith vision and relentless tenacity. Afterreceiving funding for patients in Ontario hetook on the responsibility for patients through-out Canada ultimately achieving treatmentthrough the healthcare system for all Gaucherpatients. Mark’s wife Judy has said thatMark’s crusade was “To ensure that everylife is considered a life of value and thatevery disease deserved to be treated”. Hispersonal motto “No is not an acceptableanswer” drove him to ensure that the battlefor funding for treatment for patients inCanada was successful.

By day Mark was a highly respectedproperty lawyer and together with his partnerwrote the seminal textbook on ‘The Condo-minium Act in Ontario’. He taught the OntarioBar Admission Course from 1994 to 2005and wrote articles and lectured frequently.

Mark’s death of Lymphoma is a greatloss to the global Gaucher community. Wesend to Judy and all of Mark’s family ourcondolences. Hewill be sorelymissed. Hisimpact on theGaucher worldwill be foreverremembered.

Mark Freedman

Raul and Carmen in Barcelona in 2003


The first round of applications closed lastSeptember. Each application was reviewedand scored by the members of the advisoryboard – Professor Timothy Cox, Dr AtulMehta, Dr Ashok Vellodi and Dr Ed Wraithtogether with Susan’s husband David Lewis.Once scored, the Board of the GauchersAssociation took the final decision.

The first award has been given Dr DanielaAvdjieva, a young doctor from Bulgaria. DrAvdjieva already treats both adult and pae-diatric Gaucher patients, working alongsidetwo senior doctors in Bulgaria treatingGaucher and other LSD patients. The Boardfelt that it is important for young doctorswho are interested in this area of work to be

encouraged and supportedfor succession planning andlong-term security of theservice.

Dr Avdjieva will travel tothe UK in October, spendingfour weeks visiting adult andpaediatric hospitals, as wellas Homecare companies in-volved in supporting Gaucherpatients.

Association ChairmanJeremy Manuel said,”I amvery pleased that the firstaward has been made to DrDaniela Avdjieva. Susan visited

Bulgaria and witnessed for herself the localneeds. If we can play a part in facilitating thedevelopment of local services and expertise,then we will be fulfilling Susan’s vision ofaccessibility to the best treatment for allGaucher patients.”

Second Round Call

The Association has now launched its secondcall for the Susan Lewis Memorial Award tobe given in 2010. Applicants should e-mailTanya at [email protected] for an information pack and application form.

The award is open to doctors, sci-entists and other healthcare

professionals who areworking in the field ofGaucher disease and arecommitted to continue todo so. Successful applicantswill experience a tailor madeprogramme here in the UK,and a daily subsistence allowance will be given inaddition to all travel andaccommodation costs beingmet. Applicants for the secondaward must be received bythe 30th September 2009.

The first Susan Lewis Memorial Award grantedThe Susan Lewis Memorial Award was established in 2007. Its purposeis to provide bursaries to doctors and other healthcare professionalsfrom developing countries to allow them to travel to the UK Centresof Excellence. At the centres, they will undertake mentoring and educational programmes in the treatment and management ofGaucher disease.

www.gaucher.org.uk

The Alan Gordon Memorial Award is awardedto an individual or group of individuals whoin the opinion of the Award Committee:

• Has made a significant contribution toGaucher disease, its treatment or manage-ment, or• Has made a significant contribution tothe treatment of Gaucher disease or Gaucherpatients or their families, or• Is particularly worthy of recognition

by this Award, either through research orpersonal involvement or, in specific cases,to individuals or their families having special needs.

The Alan Gordon Memorial Fund was createdin memory of the late Alan Gordon, who diedin December 1995. Alan was a foundingmember of the Gauchers Association andits first Treasurer, elected in 1991. His con-tribution during its formative years helped

to shape the Association, both through hiswise counsel as an Honorary Officer, and as a member of the Executive Committee.Previous recipients of the Alan GordonAward are –

Dr Pram Mistry, formally of the Royal FreeHospital and now Chief of Paediatric Hepa-tology and Gastroenterology at Yale Univer-sity.

Dr Terry Butters and Dr Fran Platt of the Gly-cobiology Institute, Oxford.

Tanya Collin-Histed for her work with neu-ronopathic Gaucher disease.

Professor Ari Zimran and Dr Debbie Elsteinof the Gaucher Clinic at the Shaare ZedekMedical Center in Israel for their specialcontribution to Gauchers disease.

Professor Hans Aerts of the AmsterdamMedical Center for his sustained and distin-guished contribution to the understandingand treatment of Gaucher disease and hiscommitment to patient welfare.

If you feel someone, whether a doctor, researcher, professional or layman, or a particular group of people warrants recognition, please sendyour nomination stating why you consider your choice deserves the Award, to Tanya Collin-Histed, Gauchers Association, 3 Bull Pitch,Dursley, Gloucestershire, GL11 4NG or by e-mail to [email protected]. The closing date for nominations is 30th September 2009.

The 6th Alan Gordon Memorial AwardWe are now inviting nominations for the 6th Alan Gordon MemorialAward to be sent to Tanya Collin-Histed, Executive Director of theGauchers Association, by 30th September 2009. We will announcethe recipient of the Award of £1,000 in the next Gauchers News inDecember, and on our website.

Dr Daniela Avdjieva

13GauchersNEWS



I started by saying thank you to Genzymeon behalf of Gaucher patients. It’s not anexaggeration to say that the discovery andprovision of enzyme replacement therapy(ERT) has saved my life and the lives ofother Gaucher patients.

I then introduced Gaucher disease. Manypresent were familiar with it, but othersworked on treatments for different diseasesso didn’t know anything about Gaucher. Idescribed the work of the Gauchers Associ-ation and my involvement with it, whichstarted when I decided I wanted to givesomething back to the people that hadhelped me greatly throughout my diagnosisand treatment. During such a traumatic andbewildering time, the Gauchers Associationprovided an invaluable source of supportand information to my family and I. I’m theBoard of the Association and participate asmuch as I can in its work.

I moved on to a description of my personalexperience with the disease, reproducedbelow. I emphasised that my experience isnot representative of all Gaucher patientsand I wanted the audience to know thatsymptoms vary widely and many are affectedto a much more extreme degree than me. Iexplained that there are plenty of peoplesuffering as a result of Gaucher diseaseand therefore the work of companies likeGenzyme is far from complete.

Finally, I discussed the implications ofhaving Gaucher disease:

1. Physical – the most obvious implicationof any disease is dealing with the symptoms.2. Logistical – learning to administer ERT.3. Emotional – coming to terms with the diagnosis, breaking the news to family andfriends, and worrying about passing on thedisease to children.4. Professional – telling employers anddealing with disability in the workplace.5. Social – concerns the patient may haveabout the cost to society of ERT. Most patientshave no idea what their treatment costs. TheGaucher patient knows exactly what theirtreatment costs. Its high price is due to therelatively low incidence of the disease which

reinforces the need to ensure that patientsare treated by experts who totally understandthe disease.

The audience seemed genuinely interestedin my talk and asked questions at the end.I felt that it was a great opportunity to senda message to the pharmaceutical industryon behalf of Gaucher patients and theGauchers Association.

My personal experience

I was diagnosed with Gaucher disease shortlybefore my fourteenth birthday following atrip to the GP for tonsillitis. The doctor, whohadn't seen me for a couple of years took onelook at my distended stomach and orderedme to rush to the hospital, informing mydistraught mother that I had a tumour in myabdomen. Following a barrage of invasivetests for all sorts of nasty things likeleukaemia, the perplexed consultant saidhe thought I might have something he hadvaguely heard of called Gaucher disease. Heread up on it and sure enough, the diagnosiswas made a week later. I had Type 1 Gaucherdisease. My immediate family was subse-quently tested and it was found that theywere all carriers of the disease.

Shortly after that, I was assigned to DoctorVellodi at Great Ormond Street Hospital,who had the unenviable task of explainingto my family and me that I had a rare andincurable disease. I should explain here thatthis was a huge shock to us as relativelyspeaking, I had never been ill before. Lookingback, the signs were all there, but individuallythey were manageable and did not cause muchsuffering. I had heavy and frequent nose-bleeds, attributed to various allergies; Ibruised easily and was always tired. I wasvery small and had a pot belly, explained awayas the result of genetics and puppy fat. Withhindsight, these were warning signs indeed,but at the time I never dreamed that collectivelythey were symptoms of a disease.

I had my first infusion of Cerezyme a fewweeks later and have been repeating them

ever since – once a fortnight for the last elevenyears. At first I had to go to the hospital fora nurse to administer the treatment, thenwe moved the operation home, where anurse visited every two weeks. The nextstep was for my mother to learn how togive the injection, and finally I took over. I’mpleased to say that I am now totally self-sufficient and regard the treatment as nothingworse than an inconvenience.

I later learned that my diagnosis andpath to treatment was typical among Gaucherpatients. This was in the days before a lotof information on the disease was availableonline, so understandably – especially givenits rarity – doctors had a fairly haphazardand limited knowledge of the disease. This was complicated by the fact that mysymptoms were diverse and non-dramatic.Individually, they could all be explainedaway by various factors, as they didn’tpresent themselves in dramatic ways. Theywere fairly typical of Gaucher Type 1 patients,although I also had some quirky symptoms,such as swelling of the fingers, which onlytwo other patients have reported.

Learning to administer the infusion wasinitially a traumatic and difficult process,but it was quickly proved worthwhile by therapid disappearance of my symptoms. Thefirst thing to vanish was the nosebleeds,then the enlarged spleen began to shrink,my platelet count increased and with thehelp of an endocrinologist, I attained the loftyheight of five foot one. Medically speaking,I still have many signs of the disease – I stillhave a high level of the substrate, a slightlyenlarged spleen and a low platelet count –but ordinarily speaking, I am not aware ofany symptoms on an everyday basis and amable to lead a normal and busy life.

Earlier this year, the Gauchers Association was approached by GenzymeTherapeutics to ask if a member would go along to their staff conferenceto talk about living with Gaucher disease. Emily Wallrock, a Type I patient,went to the meeting on 3 February 2009. The purpose was to makeGenzyme employees understand what life was like from a patient’sperspective. Emily reports –

Gaucher patient addresses industry personnel

Emily


The main purpose of the visit was to officiallylaunch the EGA which recently has beenincorporated as an English company andwhich was formally constituted at the European Working Group of Gaucher Disease(EWGGD) in Budapest in June 2008.

Jeremy Manuel presented to a group including MEPs, visiting doctors, represen-tatives from Eurordis and industry the aimsand objectives of the EGA. The time spent inBrussels was very busy. Members of the boardmet numerous officers of the European Parliament and the European Commissionwho are responsible for policy developmentboth to highlight European issues affectingGaucher patients and also to ascertain opportunities that may be available bothfor patient groups and for collaborative research into Gaucher disease and otherlysosmal storage disorders.

We also took the opportunity to meettwo UK members of parliament to discuss the

UK association and the EGA’s aspirations.We were welcomed by Richard Howitt MEPand Catherine Stihler MEP who offered advice and guidance as to the workings of the European Parliament (and the Com-mission) and offered to effect introductionsfor the future.

We met Miroslav Mikolaik MEP fromSlovakia who is a member of the EuropeanParliament’s committee on the Environment,Public Health and Food Safety (ENVI) andlater in the day were observers at a plenarysession of the committee where we witnesseda debate on the European Action Plan inthe field of rare diseases which was beingproposed. There was a considerable debateon the differences of access to treatmentsfor rare diseases across Europe and specificreference was made to the inconsistency ofthe availability of home therapy for Gaucherpatients throughout the European Union.Also discussed at this session was cross

border healthcare which will become a relevant issue in the field of rare diseases.

Jeremy Manuel, chairman of the EGAand of the UK association said, “Our trip tothe European Parliament was time well spent.We were able to formally launch the EGAinto the European political and administrativearena and learn something of the workingsof both the European Parliament and theEuropean Commission and how these maybenefit the Gaucher patients in Europe. Wemade some useful contacts which we hopeto build on in the future.”

[Editor’s note – Since witnessing the debatein the European Parliament on the Europeanaction plan on Rare diseases we can reportthat on 9 June the Council of Health Ministersof the EU adopted a statement calling onall member states to adopt National Plansfor the treatment of rare diseases beforethe end of 2013.]

European Gaucher Alliance (EGA) formally launched at the European ParliamentRepresentatives of the board of the European Gaucher Alliance were guests of Dr Peter Liese MEP at theEuropean Parliament in Brussels between 8 and 10 February. Dr Liese is patron of the German GaucherAssociation and a German Member of the European Parliament. Tanya Collin-Histed reports –

Orphanet gathers existing data into an encyclopaedia of rare diseases, which issearchable by either disease name and/orcategory. A summary is available in five European languages – English, Spanish,

German, French and Italian – and describeseach disease and provides access to a directory of expert services throughout Europe for that particular disease.

Additionally, there are search optionsavailable for orphan drugs, research andtrials, diagnostic tests, patient organisations,clinics and a directory of resources.

To support physicians trying to diagnosea rare disease, Orphanet provides a querysystem of signs and symptoms, with the pos-sible diagnoses listed in order of probability.

Orphanet provides a continuously updated directory of expert clinical centresand expert clinical laboratories. These canbe searched by disease name, disease category, or gene(s) implicated, as well asby region or country.

To facilitate collaboration between researchers, Orphanet lists ongoing nationaland European-level funded research projectsby type of research and by disease.

To help patients establish contact withother patients, Orphanet furnishes infor-mation on existing patient organisations inEurope, and for disorders that do not yethave a patient organisation, Orphanet hasdeveloped a service through which patientscan register to be put in contact with otherswith the same disease.

At the time of writing, Orphanet has collated information on almost 5,700 diseases, 4,200 clinics, 4,300 laboratoriesand 13,000 professionals.

OrphanetOrphanet www.orpha.net is aEuropean portal for rare diseasesand orphan drugs, created tobring together information andresources in one place.

15www.gaucher.org.uk GauchersNEWS


New AdministrationAssistant joins theAssociation

My name is Sarah Allard,I’m 37 and I’d like totake this opportunity tointroduce myself. I’vejust joined the GauchersAssociation as an administration assistantand I’m going to beworking alongside Tanyain the office in Dursleyfor three days a week.

Eighteen months ago,my husband, four-yearold daughter Isobel and I moved from Kent toGloucestershire due tomy husband’s job. BeforeIsobel was born, I was a

full time administrator for a dental practice in London.I’m very pleased to be working for the Association

and am looking forward to learning more aboutGaucher disease, and I hope my work will be of benefitto the Association for the future. You can contact me by telephone on 01453 549231 or by e-mail [email protected].

New 2009 Charity Christmas Cards Available

Christmas planning seems to start earlier each year, butfollowing on from the success of our 2008 Christmascard sale that raised a significant amount of money forthe Gauchers Association, we are pleased to be able topresent the 2009 Christmas card, perfect forfamily, friends andjust about every-one you know!

Each pack contains tensingle design cards and isavailable at £3.50 per pack.The delivery charge for theUK and Channel Islands is£2.50 per order, and for Eireand Europe the charge is£3.50 per order.

To order these greatcards, simply call Tanya Collin-Histed or Sarah Allard on 0044 (0) 1453 549 231 or [email protected].

Orders will be sent out toyou in late September.

Paris to Hayling Island Bike Rideraises £600

A big thank you and congratulations go toPaula and Ally Sperring who completed theParis to Hayling Island cycle ride in July 2008and raised £600 for the Gauchers Association.The event took 3 days and totalled a gruelling285 miles. After the cycle ride, Paula said,“We decided to donate the money raised tothe Gauchers Association after learning thatHenry, the son of close friends, was diagnosed

with Type 1 Gaucher disease. The bike ridewas tough but really good fun and we got areal sense of achievement knowing that themoney we raised was going to the GauchersAssociation. I think after having met Henryand all his lovely family, it spurred me on.”

Donations raise £610

Generous donations have been received fromKeith & Joy Moore, R & E Gregory, The Tromanfamily, and the Schon Family CharitableTrust. Thank you.

In Memory of Jake Mackinnon

Donations totalling £527 were received fromthe annual Jake Mackinnon Golf Day.

For more information on fundraising ideasand organisation, please call us on 00 44(0)1453 549231 or email [email protected].

Funds raised totals £1,737 for the AssociationThe Association relies on its members, their families and their friends who generously support the association’swork through subscriptions, donations and the organisation of fundraising events (examples of whichcan be seen on pages 5, 7, 8 and 9 of this newsletter). We are extremely grateful for this support andwould like to remind you that we have various fundraising resources available to help you, such as t-shirts, balloons, stickers, posters and leaflets.

Sarah and her daughter Isobel on holiday in Chichester



Documents

GAU Newsletter July2009:Layout 1 - Gaucher ... Front page photo ... The drug being tested is Ambroxol which has been in use since the 1970s as an over-