Curators' meeting - November 2011

Fifth annual curator and fourth oversight committee meeting - Geneva, Switzerland

Curator meeting 2011

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.

12 Apr 2017