Registry for patients with myotubular and centronuclear myopathy
Official title: Myotubular and Centronuclear Myopathy Patient Registry
Run by Newcastle-upon-Tyne Hospitals NHS Trust · NCT04064307 · Data updated 2026-11-12
This study is creating a registry to gather information from people with myotubular and centronuclear myopathy to help find participants for clinical trials and improve care for these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 500 (estimated) |
| Sponsor | Newcastle-upon-Tyne Hospitals NHS Trust Academic / other |
| Locations | 1 site (Newcastle upon Tyne, Tyne and Wear) |
| Status | Recruiting |
| Started | March 26, 2013 |
| Main results expected | May 2025 |
| Study ends | May 2025 |
| Registry record updated | April 9, 2025 |
| Trial ID | NCT04064307 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include patients diagnosed with myotubular or centronuclear myopathy confirmed by genetic testing or muscle biopsy, as well as carrier females of x-linked myotubular myopathy.
✕Probably not a fit
Patients without a confirmed diagnosis of myotubular or centronuclear myopathy will not benefit from this registry.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
The Myotubular and Centronuclear Myopathy Patient Registry is an international database designed to collect patient-reported data specific to myotubular and centronuclear myopathies. Managed by the John Walton Muscular Dystrophy Research Centre at Newcastle University, this registry aims to identify patients for clinical trials, support research, and provide healthcare professionals with updated management information. Participants must consent and provide clinical data, including genetic or biopsy reports, to contribute to the registry. The initiative is supported by various organizations, including the Myotubular Trust and Muscular Dystrophy UK.
Why it matters
Potential benefit: If successful, this registry could enhance the understanding and treatment options for patients with myotubular and centronuclear myopathy.
How similar studies have gone: Other patient registries for rare diseases have shown success in facilitating research and improving patient outcomes, indicating a positive precedent for this approach.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
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Newcastle University
Newcastle upon Tyne, Tyne and Wear, United Kingdom Recruiting
Study contacts
- Principal investigator: Chiara Marini Bettolo — Newcastle-upon-Tyne Hospitals NHS Trust
- Study coordinator: Julie Bohill
- Email: julie.bohill@newcastle.ac.uk
- Phone: 0044 191 241 8640
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Research on genetic causes of congenital myopathies
This study is trying to find out more about the genetic causes of congenital myopathies to help improve diagnosis and treatment for people born with these muscle diseases.
-
ASP2957 gene therapy for ventilator-dependent boys with X-linked myotubular myopathy
This trial will try a one-time AAV gene therapy, ASP2957, in infants and young boys with XLMTM who need a ventilator to breathe most of the day.
-
Multispectral optoacoustic tomography for imaging muscles in centronuclear myopathy
This uses a painless MSOT scanning method to try to image muscles in people with centronuclear myopathy and in matched healthy volunteers for comparison.
-
Monitoring liver health in boys with a genetic muscle condition
This study looks at how often boys with a genetic muscle condition called X-Linked Myotubular Myopathy have liver problems to better understand their health over time.
-
Understanding muscle fatigability in congenital myopathies
This study is trying to understand how muscle fatigue affects people with congenital myopathies like Central Core Disease and Nemaline Myopathy over two years.
-
Collecting data on muscle disorders using wearable devices
This study is testing a wearable device to track movement in people with muscle disorders like Duchenne Muscular Dystrophy and Myotonic Dystrophy to see how it can help improve their care.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.