The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions.
More details and online registration are available at www.mtmcnmregistry.org.
Patients with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy.
Any carrier females of x-linked myotubular myopathy, especially if they have manifested myotubular myopathy type symptoms.
Any patient who is deceased, but who had a confirmed diagnosis.
None
Eligible participants from any country. Registration is voluntary, and initiated by participants.
Case-only
Prospective
Not listed
Patient questionnaire
Patient reported clinical diagnosis, genetic mutation, motor function, wheelchair use, respiratory function, ventilation type, chest infection, feeding and heart function, neuromuscular examinations, scoliosis surgery, family history and other registries joined. No scales are collected. Patient genetic report and muscle biopsy report are also uploaded to the registry if available, with details of clinician and where the tests were conducted.
Click on the lead sponsor to view all of their trials.
Newcastle-upon-Tyne Hospitals NHS Trust
Lead sponsor
Myotubular Trust
Collaborator
Muscular Dystrophy UK
Collaborator
Astellas Gene Therapies
Collaborator
Astellas Pharma Inc
Collaborator
