30th November 2011
Patient registry curators from across the world come together in Geneva

The fifth annual patient registry curator meeting and fourth oversight committee meeting, which took place from November 11-12 in Geneva, Switzerland, was attended by 68 participants from 33 countries. Participants at the meeting heard talks on “Chips and next-generation sequencing tools for diagnosis in NMDs” from Madhuri Hegde (Emory University, US), the CARE-NMD project by Janbernd Kirschner (University Medical Centre Freiburg), a spin-off EU-funded project focusing on patient quality of life and care practices in Duchenne muscular dystrophy, and Hanns Lochmüller (Newcastle, UK) who provided an update on TREAT-NMD and explained the plans for the future TREAT-NMD Alliance.

Various case studies were presented outlining the usefulness of the patient registries in clinical trial planning and recruitment. Anna Lusakowska (Medical University of Warsaw, Poland) gave the first case study presentation titled “Polish Registry of SMA Patients – Role in Trial Recruitment” which outlined how the registry accelerated and facilitated the identification of eligible patients for the Trophos clinical trial. Mark Rogers (University Hospital of Wales, Cardiff) then gave an update on the status of the national myotonic dystrophy registries as the global myotonic dystrophy registry is not yet in operation but the common dataset is increasingly used in national registries worldwide. The next case study was a presentation on the “Dysferlinopathy registry and natural history study” by Gaëlle Blandin (Aix-Marseille University/INSERM research unit, France). As part of a larger project supported by the Jain Foundation and the AFM, the dysferlinopathy registry will be implemented to facilitate patient recruitment for a natural history study which will track the disease severity and progression. The final case study was delivered by Teodora Chamova (University Hospital “Alexandrovska”, Medical University Sofia, Bulgaria) who presented the Bulgarian DMD/BMD patient registry and how patients eligible for the Prosensa exon 51 skipping trial were identified. Two patients were identified from the Bulgarian registry and were then enrolled into the study in Ghent, Belgium as the company did not choose to use a trial site in Bulgaria but was willing to accept cross-border recruitment. The Bulgarian families provided personal feedback explaining how pleased they were to be given the opportunity to participate in research, and this success is an important endorsement of the role of registries in smaller countries where patients are otherwise extremely unlikely to be recruited.

The TREAT-NMD Global Database Oversight Committee (OC) also met to discuss important questions relating to the way patients are recruited for clinical trials through the patient registries which raised thought provoking ethical discussions on cross-border participation in clinical trials, the discontinued PTC study, the cancelled AVI extension study in Europe and also the parallel GSK and Prosensa studies. Also discussed were proposed changes to the Charter (the document that governs the global registries and the OC) as TREAT-NMD transitions out of the EU-funded period and into the TREAT-NMD Alliance.

The global registries are unique in the neuromuscular field in the way they collect reliable genetic information and also maintain the connection with patients for potential trial recruitment, and there are few equivalent examples anywhere in the rare disease field, meaning that the neuromuscular registries are frequently held up as examples of best practice. The TREAT-NMD registry for Duchenne muscular dystrophy (DMD) has more than 10,000 patients in 44 countries, and the registry for spinal muscular atrophy (SMA) has more than 2,000 patients in 33 countries. The DMD and SMA registries have been used successfully in academic and commercial studies, in particular clinical trials, facilitating and accelerating therapeutic developments since 2007. These registries would not be possible without the support of patient organisations across the world, who have understood the importance of combining all this information into a single powerful resource and who are themselves responsible for several of the national registries that provide their data to the global system.

Recognition of the utility of the global registries comes from all stakeholders: during the public consultation (October 2010, 430 respondents from all stakeholder groups) the patient registries came out as the second highest priority, with only the broader “facilitation of collaboration” ahead of it as the top priority. All of the curators and OC members agreed that the collaboration and patient registries should be sustained as TREAT-NMD moves beyond its current EU funding period and develops into the TREAT-NMD Alliance.

A full list of all the existing national registries for DMD and SMA can be found here.

The next curator and OC meeting will take place in Istanbul, Turkey in 2012.

25th French Telethon - meet the challenge!
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The 25th Telethon will take place on 2nd and 3rd December. Since 1987, this annual event - initiated by the French muscular dystrophy association AFM - has been an exceptional example of solidarity and generosity that has given hope and support to individuals with neuromuscular and other rare diseases not only in France but across the world. Collecting almost 100 million Euros per year, the Telethon supports numerous research programmes and clinical trials  - currently funding 36 trials in 31 rare diseases - and enables provision of information services and socially innovative support services. The 25 years of the Telethon have seen revolutions in genetics, biotherapies, and social care. Major scientific advances have been made, and today the first treatments are emerging. This year's Telethon will take place across six French public TV channels and last more than 30 hours. Across France, members of the public are signing up with their own specific "challenges" to raise money - from shaving off their beards to combating fear of snakes - and the TV marathon will be a fun tribute to the fundraising work of the countless supporters, the stories of those affected by NMDs, and the doctors and scientists working towards therapies.

Read more by clicking the "more" link below, or make a donation here.

European Conference on Rare Diseases and
Orphan Products 2012 Update
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The European Conference on Rare Diseases and Orphan Products provides a unique platform covering all rare diseases, across all European nations. With over 100 speakers and countless professionals in attendance, this annual conference covers research and therapy development and information regarding health care, social care, public health issues and support at both the European and national levels.

Early bird registration is currently underway and a call for poster abstracts is open on the conference website.

The poster abstract themes are:

  • National Plans for Rare Diseases
  • Centres of Expertise (CoE) & European Reference Networks (ERN)
  • Information & Public Health
  • Research from Bench to Bedside
  • Orphan Products & Rare Disease Therapies
  • Patients’ Empowerment
  • Rare Disease Patient Groups Innovations
  • Other/open topic

The closing date for abstract submission is 15th January 2012.

Download the conference flyer or visit the conference website for further details of the programme, speakers and venue.

LGMD2I Research Fund launches website
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The LGMD2I Research Fund has just launched its website: www.lgmd2ifund.org. This non-profit private foundation, established in March 2011, focuses on finding treatments for Limb Girdle Muscular Dystrophy 2I and other alpha-dystroglycanopathies. Through its grants awards program, the LGMD2I Research Fund seeks to foster basic research in the field, to promote clinical trial readiness and to support translation of promising scientific discoveries into clinics. Visit the LGMD2I Research Fund website for more information on its newly awarded grants or on resources for patients and the scientific community.

Myotonic Dystrophy Family Conference to be streamed live online
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In conjunction with IDMC-8, the eighth Myotonic Dystrophy Consortium congress, the Myotonic Dystrophy Foundation's EMPOWER 2011: Myotonic Dystrophy Family Conference is about to take place. This coming weekend, 400 people from seven countries and 36 US states will attend the 2nd annual conference in Clearwater Beach, Florida, USA. Many of the sessions will be filmed, and will subsequently be available online. In addition, the MDA is providing a video live stream of the joint session of IDMC-8 and the MDF's Family Conference on Saturday, December 3, 2011 from 2pm to 6pm ET (11am to 2pm PT).

Visit www.mda.org/IDMC8 to see these sessions live online.

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30th November 2011
TREAT-NMD newsletter - 30th November 2011