International Patient Registry for Myotubular and Centronuclear Myopathy Collecting Patient-Reported Data for Research and Clinical Trial Support

What this Trial Is About

The Myotubular and Centronuclear Myopathy MTM & CNM Patient Registry is an international database focused on collecting patient-reported information related to these rare neuromuscular conditions. The registry is managed by the John Walton Muscular Dystrophy Research Centre at Newcastle University in partnership with the Myotubular Trust and is part of the TREAT-NMD Neuromuscular Network. It aims to assist research, support clinical trials, and help healthcare professionals improve care for affected patients. Participants register online and provide consent to complete a detailed questionnaire. Clinical information, genetic testing results, and biopsy reports are shared by both participants and their doctors. The registry welcomes patients with confirmed diagnoses of MTM or CNM, carrier females with symptoms, and patients who are deceased but had confirmed diagnoses. This initiative is supported by multiple organizations and hosted on a secure online platform. During participation, individuals complete questionnaires at 12-month intervals to update their health and diagnosis status. Researchers use this data to identify candidates for clinical trials and to further understand these conditions. The registry facilitates ongoing communication between patients, researchers, and healthcare providers, aiming to enhance treatment standards and advance knowledge about myotubular and centronuclear myopathy.

Myotubular and Centronuclear Myopathy Patient Registry