Fabry's Support Group Newsletter 1

Views expressed by contributors are not necessarily endorsed by the membership of the FSG. Information presented in this newsletter is intended of general

purposes only. No responsibility is accepted by the FSG or its committee for the accuracy of information contained within the articles of this newsletter.

FABRY’S SUPPORT GROUP INC. P.O. Box 269 Willoughby 2068

www.fabry.net.au

Fabry’s Support Group Inc. Reg. No. A0029817E

ABN 70 053 079 595 “To provide support for those affected directly or indirectly by Fabry disease

Through out Australia. Increase recognition, awareness and understanding of

Fabry disease, its effects and potential solutions.” (Mission Statement)

October 2008

Welcome Fabry‘s Support Group Members to the third edition of FSG Newsletter for 2008. A big thank you to all the members who attended the FSG AGM in August. We were so fortunate to have Dr Wilcox present to us at this meeting. For those who could not attend this very informative meeting we have attached some notes and slides from his presentation. Thank you Genzyme for organising the venue at Stamford Plaza Hotel Mascot Sydney and for sponsoring this event. At the AGM the office bearers were elected for 2009 and they are as follows: President: Megan Fookes Vice President: Mardi Versteegen Secretary: Rachael Collins Treasurer: Ross Clark Ordinary Members: Marie Sansotta-Allen and Skye Broadhurst Public Officer: Margaret Davie Thank you to all the above committee and for their efforts. Without a team we could not function as a voluntary group.

We are also very fortunate to have found two other important Fabry networks and are now members of both organisations, FIN (Fabry International Network) and GOLD (Global Organisation Lysosomal Disorders). Due to the rarity of Fabry‘s disease it is important that we network with other groups that represent all people with this disorder. It helps both doctors and professionals that treat patients with Fabry‘s and those who suffer from Fabry‘s disease. I trust that you will sit back and read on. A big thank you to Rachael Collins for putting this newsletter together, with two young girls to care for as well! Happy reading. Megan Fookes President Fabry‘s Support Group Email: Meganfookes@ozemail.com.au

INSIDE THIS ISSUE

- President – Hello - AGM in Sydney - Dr Wilcox presentation - Fabry International Network - Research snippet - Roscoe Brady honoured - GOLD membership - Lysosomal Diseases Conference - Genzyme clinical trial for young males with Fabry disease - Prof. Hopwood awarded - Minutes of 2008 AGM

October 2008

Fabry's Support Group Newsletter 2

FSG Annual General Meeting Guest Speaker: Dr Wilcox

The 2008 Fabry‘s Support Group AGM, held last month in Sydney, was well attended by members of the group and guests. The minutes of the meeting are attached for your information. Welcome to our new committee member, Skye Broadhurst and thank you for joining the team. We were very fortunate this year to have an international guest speaker from USA to present on the day. Our thanks go to Dr Wilcox, who was in Australia to visit doctors and professionals who treat people with Fabry disease and to Genzyme for organising and sponsoring the event.

William Wilcox, MD, PhD Director, Inborn Errors of Metabolism; Director, Skeletal Dysplasia Morphology Lab

William R. Wilcox, MD, PhD is Director of the Metabolic Disorders Clinic in Medical Genetics and Director of the Skeletal Dysplasia Morphology Laboratory at Cedars-Sinai. Dr. Wilcox also serves Cedars-Sinai as Director of the Lysosomal Storage Disease Treatment and Research Center, Residency Director for the Medical Genetics Residency and Assistant Professor of the Medical Genetics Fellowship Program.

Dr. Wilcox is board certified in pediatrics, clinical genetics, clinical biochemical genetics and clinical molecular genetics. His current research interests include enzyme replacement in lysosomal storage diseases; the morphology, genetics and pathophysiology of human dwarfing conditions (skeletal dysplasias); and identification of the genetic defect in the Marinesco-Sjögren syndrome. He is on the advisory board of the Fabry Disease Registry and the Genetic Leadership Collaborative.

Dr. Wilcox is a graduate of the University of California, Los Angeles (UCLA) School of Medicine. He completed a residency in pediatrics at UCLA and a genetics fellowship in the UCLA Intercampus Medical Genetics Training Program.

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Fabry's Support Group Newsletter 3

Dr Wilcox presented an informative and interesting overview of the ‗Management of Fabry Disease in 2008 and Beyond‘. Topics included the clinical manifestations of the disease, progression, diagnosis, family screening, issues for females and children, enzyme replacement therapy, and the international Fabry Registry Program. In closing Dr Wilcox gave a comprehensive explanation of Chaperone Therapy which is still in clinical trials. Some of the key points that were mentioned in Dr Wilcox‘s presentation include:

The term ―female carriers‖ should be left in the past – two thirds of women with Fabry disease will have significant symptoms at some stage of their life

Many women deny their illness however problems in women are often ‗silent‘ – it is imperative to have regular assessments to detect problems early

Children are treated much earlier in America – and girls can have just as many symptoms as boys

Teenagers can have significant disease symptoms so early diagnosis, assessment and monitoring is important

Treatment guidelines in America are generally much earlier than Australia – we wait too long.

If you have Fabry disease and are monitored by a specialist you still may not be on the international Fabry Registry Program unless you are receiving ERT…ask your specialist next time you see them. Children in Australia are not on the International Fabry Registry Program.

Dr Wilcox has kindly given permission to reproduce parts of his presentation for the benefit of FSG members who were unable to attend the meeting. Interested FSG members can also request a full copy of the presentation by emailing the FSG President, Megan Fookes. The presentation is full of thorough and current information and is worth a look. If you do request a copy please keep in mind some of the information (e.g. guidelines for starting ERT) will be specific to the U.S.A.

Fabry Disease Progression

0

Pain

KidneyDisease

Strokes

Heart Disease

ConstitutionalSymptoms

Qualityof Life

[Age] 40+

Fabry's Support Group Newsletter 4

Views expressed by contributors are not necessarily endorsed by the membership of the FSG. Information presented in this newsletter is intended of general

purposes only. No responsibility is accepted by the FSG or its committee for the accuracy of information contained within the articles of this newsletter.

Fabry Family Screening

• Family screening extremely important

– inherited disorder

– new mutations infrequent

• One diagnosis can uncover many others

• Early diagnosis and intervention can lead to

improved outcomes

• Important for families to understand risk of passing

disease gene

Female “Carriers”

• From multiple studies, approximately 2/3 of women will have significant symptoms at some point in their life

• Significant kidney disease occurs in about 1/3, but kidney failure is less common than with men (about 10% of women)

• Heart disease and strokes are the most common serious problems. The onset is about 10 years later than men.

• Exercise intolerance, fatigue, pain, temperature intolerance or lack of sensation, intestinal and stomach problems, anxiety, depression, and headaches can be debilitating

• There is currently no way to predict which women will have serious involvement later in life

• Most doctors think women can’t have symptoms

• Many women deny their illness

October 2008

Fabry's Support Group Newsletter 5

Children with Fabry

• Boys begin having problems with pain at an

average age of 5

• Problems with sweating (overheating) and

exercise are common in school

• Stomach pain and diarrhea are common

• Teenagers can have heart disease, strokes,

and significant kidney disease

• Girls can have as many problems as boys

Fabry Registry Program

• World-wide program

• Follow patients over time- what problems does

enzyme prevent, what doesn’t it help

• Allows your results to be tabulated and tracked

easily over time

• Data is entered with a code

• Data from your records can be entered even if

you are not seen at the center- with your consent

• PLEASE PARTICIPATE!

October 2008

Fabry's Support Group Newsletter 6

Fabry International Network (FIN) FSG has recently established links with global group Fabry International Network (FIN) and is negotiating to have a member of FSG as an Australian representative on the FIN Board. The FSG committee believes having a close association with an international network is vital to keeping informed of global news and research regarding Fabry disease. The FIN Mission Statement below provides overview of the organisation‘s aim however for more information visit their website http://fabryintnetwork.com

Research snippet: Early enzyme treatment best in Fabry's disease A new study in Munich, Germany, has found that early enzyme-replacement therapy brings the most benefit in patients with Fabry's disease. Dr Frank Weidemann (University Hospital Wurzburg, Germany) presented the results of his prospective study at the European Society of Cardiology Congress 2008 earlier this month. Specifically, Weidemann and his colleagues found that only patients with no myocardial fibrosis at baseline improved in cardiac morphology, function, and exercise capacity following enzyme-replacement therapy. Those with mild or severe fibrosis stayed stable but saw no improvement in these parameters with the treatment, he noted. Message is to treat early

Weidemann said the message for clinicians treating these patients is that myocardial fibrosis should be assessed at baseline in Fabry's disease patients, using MRI with late enhancement, because early treatment is superior to late treatment for long-term improvement of cardiac morphology, function, and exercise capacity.

Weidemann said patients with Fabry's disease present at different ages. Some come in later life, because they are discovered, by screening or by accident, to already have a problem with some organs, whereas others are younger, discovered via family screening following a diagnosis of Fabry's in another family member. Currently, treatment with enzyme-replacement therapy begins

FIN Mission Statement The primary aim of the FIN is to facilitate collaboration between organizations to support those affected by Fabry disease. It seeks to do this primarily through enabling communication, promoting best practice and acting as an independent forum for Fabry patients around the world. The principle foundation of FIN is to be neutral and independent in all of its communication, action, and decisions worldwide and one long term goal to promote a single world wide International Fabry Conference that allows a place where all relevant aspects and information of Fabry disease and current or future drugs and therapies can be shared in a non biased environment. Source: http://fabryintnetwork.com

October 2008

Fabry's Support Group Newsletter 7

whenever a patient begins to show signs of organ damage, whether in the heart or other organs, such as the kidney, he explained.

But an ongoing study—FIELD—is examining whether younger, asymptomatic patients may benefit from prophylactic treatment with a lower dose of the enzyme than is currently used for therapy, he noted.

Text from the following online article. To read the full article go to the website link below: Lisa Nainggolan. Early enzyme treatment best in Fabry's disease. theheart.org. [Clinical Conditions > Clinical cardiology > Clinical cardiology]; Sep 17, 2008. Accessed at http://www.theheart.org/article/905473.do on Oct 1, 2008

Bush presentation to Roscoe Brady

At an impressive White House ceremony this month, President George W. Bush presented the 2007 National Medal of Technology and Innovation to eight individuals and companies. The medal is this nation‘s highest honour for technological and scientific accomplishment.

One of the eight included Roscoe O. Brady who was honoured for his discovery of the enzymatic defects and hereditary metabolic disorders such as Gaucher disease, Neimann-Pick disease, Fabry disease and Tay-Sachs disease, devising widely used genetic counselling procedures and the development of highly effective enzyme replacement therapy that provided the foundation of patient treatment; and for stimulating the creation of and fostering the success of many biotechnology companies that produce the therapeutics for the treatment of these diseases.

Roscoe Brady may be remembered by some FSG members when he visited the Royal Melbourne Hospital in Victoria some years ago.

Source: United States Patent and Trademark Office website http://www.uspto.gov/main/homepagenews/2008sep30.htm

Do you still receive your newsletter by post? If you would like to have it emailed instead please let us know.

October 2008

Fabry's Support Group Newsletter 8

GOLD Membership Accepted

FSG‘s has recently become a member of a world-wide organisation called the Global Organisation for Lysosomal Diseases (GOLD). As members of FSG you will also be able to register to access the member‘s section of the GOLD website: www.goldinfo.org . For more information please read the separate attachment, ―Gold Welcome Info Pack‖ which was emailed with this newsletter. The extract below, from the GOLD website, offers a brief description of the organisation.

GOLD, the Global Organisation for Lysosomal Diseases, is an international collaboration of scientific and medical associations, patient groups, and commercial organisations dedicated to improving the lives of all patients with a lysosomal disease.

Lysosomal Storage Diseases (LSDs) are a group of approximately 50 genetic (inherited) disorders, sharing common clinical and biochemical characteristics. Individually, each disease is rare, but by considering all LSDs as a common entity, the prevalence is approximately 1:5000.

GOLD believes significant progress can be made by building consensus and speaking with a united voice on behalf of the Lysosomal Diseases Community across international boundaries.

Text from: www.goldinfo.org. Accessed on Oct 8, 2008.

The FSG website www.fabry.net.au, is about to be revised and updated! What would you like to see added or changed on the website? We welcome your feedback! Contact Megan with your suggestions Meganfookes@ozemail.com.au

October 2008

Fabry's Support Group Newsletter 9

Lysosomal Diseases Conference - Christchurch

FSG is fortunate to be able to send two committee members to the Lysosomal Diseases Conference in Christchurch at the end of November due to the generous sponsorship of Genzyme.

The conference although not specifically for Fabry‘s disease will offer a wealth of information regarding all Lysosomal diseases. The topics to be presented include:

Overview of LSDs Looking Back, Looking Forward Challenges of LSDs – The Brain, Central Nervous System

Therapies for the Brain Planned Clinical Trials of ERT Therapies Existing and Emerging Clinical Management of MPS and Other LSDs New Born Screening Access to Medicines.

FSG‘s next newsletter will include an overview of the information gained from the conference.

For more information on the conference please visit the website: www.ldnz.org.nz

The 1st

Asia–Pacific Lysosomal Diseases Conference, Christchurch incorporating the 12

th Australian MPS Society Conference

and celebrating the 25th

jubilee of the Australian MPS Society

Proudly hosted by Lysosomal Diseases New Zealand

20–23 November 2008, Chateau on the Park, Christchurch, New

Zealand

Lysosomal Diseases New Zealand is very proud to be hosting the 12th National Australian MPS and

Related Diseases Conference and the 1st Australasian Lysosomal Conference in Christchurch New

Zealand, November 20th–23rd 2008.

This is an especially significant year for the Australian MPS Society as they will be celebrating their 25th

anniversary of supporting families in Australia and New Zealand.

October 2008

Fabry's Support Group Newsletter 10

Genzyme clinical trial for paediatric males with Fabry disease

The following press release was recently announced on the Genzyme website.

Source: Genzyme website http://www.genzyme.com/corp/investors/news_home.asp. Accessed 16 October 2008

Are you a financial member of FSG?

If not, and you would like to join please email us and we will forward you a membership form.

Genzyme Begins Enrollment in Post-Marketing Study to Evaluate Use of Low Dose Fabrazyme Treatment for Fabry Disease

Date: October 15, 2008

CAMBRIDGE, Mass -- Genzyme Corporation (Nasdaq: GENZ) announced today that the company has begun enrollment in a world-wide post-marketing clinical trial evaluating the efficacy and safety of treating pediatric male patients with mild Fabry disease symptoms with a low-dose regimen of Fabrazyme® (agalsidase beta). Data from the ―Fabrazyme: Intervening Early at a Lower Dose (FIELD)‖ study may support supplemental submissions to regulatory agencies seeking additional dosing options that facilitate early treatment for Fabry disease.

"This treatment regimen might be more adapted for those patients with milder symptoms of the disease, providing them flexibility in their treatment options. The ability to provide a lower or less frequent dose of Fabrazyme for pediatric patients with milder symptoms may translate to some patients receiving the treatment early," said Dr. Uma Ramaswami, metabolic pediatrician at Addenbrooke's Hospital in Cambridge, UK, and co-principal investigator for the FIELD study.

Up to 20 institutions across Europe, the U.S., Canada and Latin America are expected to participate in the study. The trial will examine the efficacy and safety of two lower-dose regimens of Fabrazyme in male patients aged 5 to 18 years over the course of five years. Patients will receive either half the recommended dose of Fabrazyme every two weeks (0.5mg/kg of body weight) or a dose of 1mg/kg every four weeks. Fabrazyme at the recommended dose of 1mg/kg every two weeks has been approved in more than 40 countries, including the U.S. and Canada, as well as throughout the European Union, for the treatment of Fabry disease.

―We are very excited to be a part of this important study,‖ said Dr. Paul Fernhoff from the Emory University School of Medicine and one of the clinicians conducting FIELD in the U.S. ―We know that Fabry disease is a progressive disorder in which irreversible damage occurs, sometimes very early in life, and feel that intervention prior to this damage may be vital to improved patient outcomes.‖

October 2008

Fabry's Support Group Newsletter 11

Leading geneticist become SA Scientist of the Year

August 23, 2008 In a quest to cure an inherited disorder that severely affects children, Professor John Hopwood has been named the 2008 South Australian Scientist of the Year. As part of the State Government‘s Science Excellence Awards held last night at the Hilton Adelaide, leading biochemical geneticist, Professor John Hopwood was awarded the prestigious, $50,000 prize by the Governor of South Australia, Rear Admiral Kevin Scarce AC CSC RANR. Officiating at the event, Science Minister Paul Caica said Professor Hopwood and his team, at the Lysosomal Diseases Research Unit at Pathology SA, have been achieving research breakthroughs in a field where patient therapies have previously be unavailable. ―Under Professor Hopwood‘s leadership the Unit has become world-renowned for its research in the area of lysosomal storage disorders, which impact on the healthy functioning of body cells. ―In Australia around 50 babies are born each year with one of these inherited disorders, which lead to progressively severe clinical problems, impacting on the quality and length of their lives. ―Professor Hopwood and his team have been discovering the genes responsible for some of these disorders and have been licensed to commercialise recombinant proteins, which recently gained US Food and Drug Administration approval. ―By showing not only a willingness to work on applied research, but also an outstanding capacity to deliver results that benefit people‘s lives, Professor Hopwood and his team have achieved an enviable reputation with users of their research.‖ It‘s estimated that Professor Hopwood‘s research for the health system has led to work generating an income to the State of more than $100-million. He is SA‘s second only Scientist of the Year, with the category having being created for the first time last year by the State Government. The award recognises an individual for their outstanding achievement in scientific research that significantly advances knowledge and has the potential to produce a commercial outcome or benefit to the community, with the $50,000 prize to be used towards the winners‘ research. Also last night, Minister Caica presented three other leading SA scientists and one leading scientific collaboration with Science Excellence Awards and each receive $15,000 to progress with their research and initiatives.

Professor Mark Buntine from the University of Adelaide‘s School of Chemistry and Physics was awarded Science Educator of the Year. Professor Buntine has established a community of practice amongst academics and students that makes a demonstrable difference to student learning in laboratories across the nation and beyond, with the development of the Advancing Chemistry by Enhancing Learning in the Laboratory program;

Professor Drew Dawson from the Centre for Sleep Research at the University of South

October 2008

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Australia won the award for Excellence in Research for Commercial Benefit. Professor Dawson‘s vision and leadership has helped the Centre for Sleep Research become a world leader in fatigue management, working extensively with industry to reduce the significant risks associated with fatigue related accidents and injuries;

Associate Professor John Mulley from SA Pathology won the award for Excellence in Research for Public Good Benefit. A/Professor Mulley established paediatric molecular genetic testing at the Women‘s and Children‘s Hospital, with his research focussing on the genetic causes of epilepsy. A/Professor Mulley has been active for 30 years in the translation of research into diagnostic practice for a range of genetic diseases;

Marine Innovation SA won the Constellation SA Award for Excellence in Collaborative Research. MISA has the vision to establish South Australia as an internationally recognised and vibrant centre for marine science, education and ecologically sustainable seafood development. The initiative has brought together a range of research institutions, industry and community groups to foster and coordinate research to maintain the marine environment and advance the fishing and aquaculture industries.

―These prestigious awards, now in their fourth year, recognise and reward some of our State‘s most outstanding scientists; scientists who make pioneering discoveries, scientists who coach and mentor others and scientists who have a driving passion to promote the benefits of science to the community,‖ Minister Caica said.

―Our scientists compete in a highly globalised research and innovation environment and they consistently excel on the world stage, making enduring contributions to the social and economic growth of our State.‖

Source: The Linking Hand MPS (Mucopolysaccharide & Related Diseases Society Australia) Spring 2008 Newsletter

October 2008

Fabry's Support Group Newsletter 13

Minutes of meeting:

Fabry’s Support Group (FSG) AGM 17 August 2008

Venue: Stamford Hotel, Sydney Airport Meeting commenced: 1.19pm Attendees: Ross and Leanne Clark, Megan Fookes, Mardi Versteegen, Margaret Davie, Marie Sansotta-Allen, Rachael

Collins, Lea Chant, Skye Broadhurst, Paul Broadhurst, Kerry (Westmead), Mark DeWolf, Apologies: Alan Camilleri Proxy forms: Alan Camilleri Confirm Minutes 2007/2008 AGM – 1st Margaret Davie, 2nd Lea Chant Committee of Management Annual Report 2007/2008 – read and received 1st Marie Sansotta-Allen, 2nd Ross Clark Treasurer’s Report and audited account for 2007/2008 – prepared by Ross Clark Read and received 1st Margaret Davie, 2nd Rachael Collins Election of Office Bearers for 2008/2009 All positions were declared vacant Election President – Megan Fookes Vice President – Mardi Versteegen Secretary – Rachael Collins Treasurer- Ross Clark Ordinary Members – Skye Broadhurst and Marie Sansotta-Allen Public Officer – Margaret Davie Positions Filled 1st Margaret Davie, 2nd Ross Clark GENERAL BUSINESS: - Correspondence Received

• letter from Department of Health and Ageing (the Hon Nicola Roxon MP) and Parliamentary Secretary to the Minister for Health and Ageing, Senator the Hon Jan McLucas

• Self Help Qld June Newsletter • Letter from Marion Heussler ( Cliff’s mother) she has moved in with her daughter as she is too ill to live on

her own, had renal failure and heart failure twice • GSNV receipt for subscription payment $22 • MPS Australia – newsletter Winter 2008 • LDNZ Conference information and booking booklets x12 copies • Invitations to Lea Chant and Megan Fookes to attends 10th Anniversary of Genzyme Australasia’s

official incorporation in Australia with guest of honour: The Hon Maxine McKew MP Federal Member for Bennelong • Fabry Registry Annual Report 2008

Correspondence Sent • July Newsletter sent to 69 members • Template letter to Federal Member sent to 69 members

October 2008

Fabry's Support Group Newsletter 14

Correspondence accepted and read – 1st Lea Chant, 2nd Mardi Versteegen

Accounts for Approval and reimbursement

• $22.00 – Megan Fookes (postage) • Flights Qld – NSW Rachael Collins $248.00 • Flights Vic – NSW Mardi Versteegen $357.85 • Flights Qld – NSW Marie Allen $222.83 • Flights Australia - Christchurch LDNZ Conference $666.80 Mardi Versteegen • Flights Aust – Christchurch LDNZ Conference $835.14 Megan Fookes • LDNZ Conference registration $300 NZ Dollars for Megan Fookes (to be paid in NZ in Nov) • FSG liability insurance $605.55

Accounts accepted – 1st Marie Sansotta-Allen, 2nd Lea Chant Meeting Closed 2.07pm