Centronuclear Myopathy, Centronuclear Myopathy, X-Linked, Myotubular (Centronuclear) Myopathy, Myotubular Myopathy, Myotubular Myopathy 1, X-linked Myotubular Myopathy
Conditions
Keywords
Registry, Patient Registry, Myotubular, Centronuclear, Myopathy
Brief summary
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.
Detailed description
The Myotubular and Centronuclear Myopathy (MTM & CNM) Patient Registry is managed and operated 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. The registry has been developed in partnership with a number of leading neuromuscular researchers, and is jointly funded by the Myotubular Trust, Muscular Dystrophy UK and Astellas Gene Therapies. Participants register online and must provide consent before accessing the registry questionnaire. The clinical data and genetic or biopsy reports are provided by the participants and their doctors. The MTM & CNM Registry aims to: * Help identify patients for relevant clinical trials as they become available. * Encourage further research into myotubular and centronuclear myopathy. * Provide researchers with specific patient information to support their research. * Assist doctors and other health professionals by providing them with up-to-date information on managing myotubular and centronuclear myopathy, to help them deliver better standards of care for their patients. The investigators welcome the registration of: * All 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. This is an online registry and is hosted on the RDRF (Rare Disease Registry Framework) by Murdoch University. More details and online registration are available at www.mtmcnmregistry.org.
Interventions
None listed
Sponsors
Myotubular Trust
Muscular Dystrophy UK
Astellas Gene Therapies
Astellas Pharma Inc
Newcastle-upon-Tyne Hospitals NHS Trust
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* 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.
Exclusion criteria
\- None
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Patient questionnaire | 12 months | 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. |
Countries
United Kingdom
Contacts
Primary ContactJulie Bohill
Outcome results
None listed