Myotubular and Centronuclear Myopathy Patient Registry
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Myotubular Myopathy, Myotubular Myopathy 1, Myotubular (Centronuclear) Myopathy, Centronuclear Myopathy. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United Kingdom
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Primary outcome measures
- Patient questionnaire [Time frame: 12 months]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
United Kingdom · 1 center
- Newcastle University — Newcastle upon Tyne
Identifiers
NCT: NCT04064307 · NUTH 7729