An observational study in Myotubular Myopathy, Myotubular Myopathy 1 and Myotubular (Centronuclear) Myopathy, sponsored by Newcastle-upon-Tyne Hospitals NHS Trust. Recruiting at 1 site in United Kingdom. Per ClinicalTrials.gov, last updated 2025-04-09.
Sponsored by Newcastle-upon-Tyne Hospitals NHS Trust · Observational
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.
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:
The investigators welcome the registration of:
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.
24 studies on the registry are indexed under Myopathies, Structural, Congenital; 10 are open to participants now.
This study's planned enrollment of 500 is above the median of 49 across 12 observational studies indexed under Myopathies, Structural, Congenital.
Browse Myopathies, Structural, Congenital studies →Newcastle-upon-Tyne Hospitals NHS Trust is the lead sponsor of 67 studies on the registry; 5 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Eligible participants from any country. Registration is voluntary, and initiated by participants.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
Time frame: 12 months
Started Mar 2013 (actual). Primary completion is estimated for May 2025, 146 months after the start.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
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Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Myopathies, Structural, Congenital →
Newcastle-upon-Tyne Hospitals NHS Trust