Myotubular and Centronuclear Myopathy Patient Registry

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-03-26

Study Completion Date

2025-05-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Myotubular Myopathy Myotubular Myopathy 1 Myotubular (Centronuclear) Myopathy Centronuclear Myopathy Centronuclear Myopathy, X-Linked X-linked Myotubular Myopathy

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Chiara Marini Bettolo

Professor Neurologist and Clinical Lead, John Walton Muscular Dystrophy Research Centre. Clinical Lead of the Highly Specialised Service for Rare Neuromuscular Diseases, and Honorary Clinical Research Associate at Newcastle University

Responsibility Role PRINCIPAL_INVESTIGATOR