Friday 18 May 2012

New registry brings hope for families with myotonic dystrophy

A new patient registry for individuals with myotonic dystrophy type 1, funded through a partnership between the Muscular Dystrophy Campaign and the Myotonic Dystrophy Support Group, will be launched tomorrow. The new registry will allow clinicians and researchers to speed up the transition of treatments from the laboratory to the clinic by speeding up the recruitment process of people to take part in clinical trials and to better understand the condition.

Researchers have made considerable progress in recent years with the development of promising technologies that could provide the basis for potential treatments for myotonic dystrophy. To find out whether any of these new technologies can be used to treat the symptoms of the condition, they have to be tested in a clinical trial. Myotonic dystrophy, however, is a rare disease and one of the problems clinicians will face is in finding sufficient patients quickly enough to allow the start of a clinical trial without delay.

The registry, established under the lead of Professor Hanns Lochmüller at Newcastle University, is a centralised database that contains the crucial information needed to find people suitable for clinical trials. The information will also be used to develop standards of care and will give people a link to the research community, as well as the opportunity to access information directly relevant to their condition.

We are calling on everybody in the UK with myotonic dystrophy type 1 to come forward and register. You will be asked to fill in a short online questionnaire about your symptoms and family history. If you have limited access to the internet, you can phone the registry curator, Karen Rafferty (0191 241 8640) to request a paper copy of the form to be sent to you. All the data is stored in a secure server and is only accessible to appointed registry staff.

Among those backing the project is Blaydon MP Dave Anderson, who lost his sister, brother and two of his nephews to myotonic dystrophy, with a further six members of his family living with the effects of the condition. He said,

So many of us hit by myotonic dystrophy have experienced losing not just one person but many that we love dearly to this cruel and unpredictable disease. I lost my brother and sister, and have seen the condition passed down generation by generation. Myotonic dystrophy has run riot through my family, and I have seen first-hand the pain and devastation it can cause.

To tackle myotonic effectively, we need the thousands of families affected to speak up. Research into treatments for muscular dystrophy is coming forward in leaps and bounds. At the heart of these strides forward are people who are prepared to speak about how their conditions affect them and those who want to get involved with trials. The more people that become part of this registry, the more hope that we have to beat myotonic dystrophy in our lifetimes.

Dr Marita Pohlschmidt, Director of Research for the Muscular Dystrophy Campaign said,

The registry offers real hope to increase the pace of research into treatments for myotonic dystrophy. The condition is rare, and specialist health centres may struggle to contact enough patients to put together clinical trials, quickly. Lack of certainty about reaching enough patients who are suitable for a trial in a reasonable timeframe could cause problems securing funding and backing, especially from the pharmaceutical industry. Having details of people affected, data on symptoms and information about the genetic mutations responsible for the condition in one place, will give us the tools to take promising technology forward to benefit patients.

Margaret Bowler is National Co-ordinator of the Myotonic Dystrophy Support Group, which was set up in 1989 to support families affected and is co-funding the registry. She lost her husband to myotonic dystrophy and her youngest son also has the condition. Margaret said,

Myotonic dystrophy devastates families, often leaving people to cope with the loss of several close relatives. Seeing the impact of the condition on family members, who may face increasing disability and failing health can be heart-wrenching, and the unpredictability of who and when the symptoms while strike is a constant source of anxiety. Any opportunity to further treatments is precious. This registry will be an opportunity for specialists to work more closely with and better understand the thousands of people who are living with this genetic neuromuscular condition. We need to reach as many of those affected as possible to give them this choice.

Prof Hanns Lochmüller is Honorary Consultant in Neuromuscular Genetics at Newcastle University and is the lead for the Patient Registry. He said,

The launch of the registry is an exciting prospect for myotonic dystrophy patients and the early response has been very positive. The major success factor is the collaboration between the patient organisations, scientists and clinicians. I am pleased to be the lead for the Registry and am looking forward to seeing it develop in the future.

The Muscular Dystrophy Campaign is providing support for patient registries so that clinical trials can get underway quickly and patients in the UK don't miss out on opportunities to take part. We are currently funding the setting up of two new registries in the UK, and we plan to support more registries in the future. It is only through your contributions that we can fund these vital registries. Donate now and join us in supporting these registries.