On July 1-2, 2016, MDF participated in a European Neuromuscular Centre (ENMC) workshop, entitled “Myotonic Dystrophy: Developing a European Consortium for Care and Therapy.” The stated primary goal of the workshop was to “unify Europe’s approach for care and therapy in myotonic dystrophy type 1 (DM1).”
The genetic and phenotypic variability in DM and differing patient care practices create challenges for the design and conduct of clinical trials of novel candidate therapies. There is a critical need to establish clinical trial readiness, including mechanisms for sharing natural history data, development of outcome measures that are clinically meaningful (and thus acceptable for regulatory approvals in the U.S. and Europe), identification of patients for enrollment in trials, and standardization/qualification of clinical trial sites so that large Phase 3 registration trials are feasible.
MDF has already taken substantial steps in this direction, developing registries, putting the Myotonic Dystrophy Clinical Research Network into place, developing and seeking consensus on care considerations, harmonizing physical therapists in the conduct of outcome measures in clinical trials, and engaging biotechnology and pharmaceutical companies, as well as FDA and NIH, to foster their interest in DM and ensure that the patient perspective is heard.
The ENMC workshop addressed these same issues of clinical trial readiness for the European Union and represented an initial step toward a collaborative network for research and care in DM1. MDF’s involvement was to learn and to lend voice to the concept that a research and care network must not be a European premise, but an international one. MDF staff emphasized the point that, for rare diseases like DM, we must seek opportunities to collaborate, to share data, experiences, and lessons learned, internationally, if we are to improve care and treatment of DM.