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RaRe diseases a medical observer special

update Graves disease, Pt 2: treatment and thyroid eye disease 31

rare diseases
first in a medical observer three-part series

Establishing a rare diseases registry in Australia would have many benefits, reports Jane Lyons.
LIKE most parents, Deborah Robins hopes to die before her children. But as the mother of a 23-yearold man with Duchenne muscular dystrophy (DMD), her wish is unlikely to be granted. A rare disease that strikes one in 3300 boys, DMD is linked to mutations in the dystrophin gene, which cause the gradual replacement of muscle tissue with fibrosis and fat. Patients are generally unable to walk by 12, suffer joint contractures, cardiomyopathy and respiratory insufficiency in early adulthood, and die, on average, at 25 years of age. Ms Robins believes her son Doug, who is wheelchairbound but has only recently lost the ability to feed himself, will reach the milestone of 30 but not much further. Parents are meant to die first thats the way its meant to be. I just dont want to contemplate the abnormal way at all, she says. But her personal pain has become political gain in her role as director of the Duchenne Foundation, which successfully lobbied state and federal governments to create the National DMD Registry that was launched late last year. With gene therapy trials rolling out around the world, the

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[How to] start is often the critical issue

Dr Hugh Dawkins
registry can not only link Australian patients with biotechnology companies seeking study participants and foster greater knowledge about the condition, but it will have a domino effect on other rare diseases, Ms Robins believes. Rare diseases registries are a common feature of the medical landscape in the US and the European Union, and many stakeholders there have set their sights on new horizons, with plans for national registries combining all rare diseases. A recent editorial in The Lancet made a case for a global rare diseases registry.1 In Australia, page 28


20 May 2011



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page 26 clinicians, researchers and academics working in rare diseases say its high time this country picked up a baton that the US and EU have been running with for a while. In April, a Perth symposium, Awakening Australia to Rare Diseases, formed the starting line for the development of a national plan for rare diseases, including the identification and establishment of national registries. Dr Hugh Dawkins (PhD), a manager in the Office of Population Health Genomics at the WA Department of Health, who organised the symposium, says everybody wants to do something about rare diseases. [How to] start is often the critical issue, and the conference is just the beginning of an engagement process, he says. There are about 60007000 rare diseases, the definition of which varies from country to country. Most of the conditions are genetic, strike during childhood,


are severely disabling or life threatening, and have no cure. They are also characterised by a lack of knowledge about the diseases, diagnosis difficulty and delay, lack of treatment options, and enormous social and financial costs for patients and their families. According to Dr Yvonne Zurynski (PhD), the deputy director of the Australian Paediatric Surveillance Unit (APSU), rare diseases may be uncommon but collectively they account

have on families, on doctors who care for people with rare diseases, and on health services, she says. But Dr Dawkins says these orphan diseases, neglected for so long by researchers and pharmaceutical companies, are finding a home in the open-science community that national and global registries are creating. These registries have created an incentive for drug companies and researchers by easily identifying eligible trial patients, he says.

rare disease definitions3

Australia one in 10,000 Europe prevalence of one in 2000 US affecting fewer than 200,000 people

there is a lack of recognition of the impacts that rare diseases have on families and doctors Dr Yvonne Zurynski
for 610% of the population, affecting around 1.4 million Australians. Rare diseases are underresearched throughout the world but especially in Australia, where there is a lack of recognition of the impacts that rare diseases They have also created a unique collaboration. The registry represents an important enabling tool that helps to link patients with the biotech and pharmaceutical industries that are developing new therapies and the clinicians who

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are looking after and treating the patients, says Dr Dawkins, who also helped develop the three Australian muscular dystrophy registries. Its a very important change in the relationship between these parties. Genzyme is not only an example of a biotechnology company that has picked up the baton on rare diseases research, but it has also created the biggest global registries for the rare metabolic disorders Fabrys disease (4000 registered patients), Pompe disease (950), Gauchers disease (6000) and mucopolysaccharidosis I (1000), deriving the data from doctors in 67 countries. Data from the registries have helped expert physician groups create formal disease management and monitoring guidelines, says Catherine Koepper, the director of Genzymes global registry operations. Australian registries will also help to develop better rare disease epidemiology in this country, Dr Dawkins says. Despite our very good health records and health system in Australia, we dont know the prevalence of many diseases, and Duchenne is just one of them. New registries for myotonic dystrophy and spinal muscular atrophy are due to be launched soon. Dr Zurynski says it is unclear exactly how many rare disease registries exist in Australia, with many operating on a shoestring budget and run by patient groups. One of the conference outcomes was a scoping exercise to establish a clearer picture. By comparison, the US has an estimated 470 rare disease registries, and global registries for cystic fibrosis and neuromuscular disease also exist. These registries generally contain patients personal, clinical and genetic information. Dr Zurynski says the APSU has provided researchers with national epidemiological and clinical information on over 50 rare childhood diseases, which has also led to the development of the Australian Rett syndrome registry. The beauty of our system is that it can support the study of up to 16 diseases simultaneously and

this saves on costs, she says. She and Dr Dawkins believe the information and infrastructure synergy of a national rare diseases registry, and its links to a global one, would offer even greater benefits to patients, clinicians, researchers and drug companies. Dr Dawkins and his department are currently working on this project. Were inching forward, disease by disease, based on an assessment of clinical utility, he says. Dr Dawkins is looking for inspiration to the registry work being done by Orphanet in Europe and the US Office of Rare Diseases, whose director, Dr Stephen Groft (PharmD), coauthored the Lancet article on the global rare diseases registry. Dr Groft says the playing field for rare disease has changed with the advent of the Internet, the growth of patient advocacy groups and greater media interest. With the explosion in genetic knowledge and an era of personalised medicine beckoning, the impetus to create a global rare diseases registry has never been greater. A lot of the pieces are coming together, he says. With the help of 1100 rare diseases advocacy groups, DrGroft will develop a US rare diseases registry this year. International efforts to create a global registry, and links to a biorepository of biological specimens, is a more daunting task, with universal standards, infrastructure and privacy provisions among the issues raised by rare diseases experts.2 But like many of the experts, Ms Robins is also keeping her eyes on the big picture. Despite DMDs gene mutation being one of the first to be identified, in 1986, drug trials have been a long time coming, and, at 23, Doug is now too old to take part. Hes provided the stimulus, like the other boys, for it to be better for future generations thats their role.
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