…funding period. The new RD-Connect Community is an independent, not-for-profit, international association of individuals and organizations sharing the vision of building an open community that works to improve rare disease…

In rare diseases like the congenital myasthenic syndromes and other disorders of neuromuscular transmission, research results are frequently the result of international collaboration. Patients may be seen in clinic in…

…health-care providers in Germany, Austria and Switzerland. All data are collected during routine patient visits. Items for data collection are aligned with the international consensus for SMA registries. Data analysis…

…neuromuscular disease research. The White Paper can be downloaded via the link below and is excellent reading material for anyone with an interest in the meaningful involvement of patients in…

…is an antisense oligonucleotide against DUX4 that is given by intravenous infusion. We are currently the sole Canadian site for the FORTITUDE study and are excited to open recruitment for…

…reduce treatment delays for patients with rare diseases by directly linking diagnosis and treatment information. The special issue also includes a systematic review on the metabolic myopathies from our lab…

The 2018 ENMC workshop on shared decision-making has resulted in a second valuable publication on the importance of co-creation in healthcare and medical research. In this new article by Ambrosini…