Patient registries of rare, inherited muscular disorders

Number 157
Date 28 January 2008


157th ENMC International Workshop

The ENMC hosted a group of experts for a discussion on patient registries for rare, inherited muscular disorders. The ENMC Workshop was aimed at collaborative action towards patient registries for these disorders in Europe and world-wide. Harmonizing practices, joining forces and merging experience on patient registries should facilitate research into rare, inherited muscle disorders, support upcoming clinical trials, and deliver standards of care. This workshop provided an excellent ENMC development of the work into rare muscle diseases towards clinical trial readiness and complements recent TREAT-NMD activities on DMD and SMA. The workshop was attended by 20 participants from 8 countries (Finland, France, Germany, The Netherlands, Spain, Switzerland, United Kingdom and U.S.A.). Participants included bioinformatics experts, geneticists, neurologists, paediatricians and representatives of patient advocacy organizations. The databases and registries discussed varied from simple laboratory based databases to patient led initiatives, and the diseases included several types of congenital muscular dystrophy and myopathy, limb girdle muscular dystrophies, oculopharyngeal muscular dystrophy, myofibrillar myopathies, Pompe Disease, facioscapulohumeral muscular dystrophy and myotonic dystrophy. Agreement was reached on the importance of European and global harmonized and coordinated patient registries for accelerating progress, in particular in translational research. This will be facilitated by action taken by individual, disease-specific ENMC workshops and consortia, but also through joint action across diseases. This includes a web-based inventory of patient registries to be published, harmonization of registration practices and registry content, increased collaboration with patient organizations and empowerment of patients, and sharing of resources and dissemination through ENMC and TREAT-NMD. The participants of the workshop wish to invite additional representatives for rare, inherited muscle disorders to get involved and form a consortium for further work in this area. A full report will be published in Neuromuscular Disorders and will be complemented by an inventory of the registries available.

A report of this workshop has been published in Neuromuscular diseases

full text pdf

Prof. Hanns Lochmüller (UK)

Prof. Christophe Beroud (France)