Myotubular and Centronuclear Myopathy Patient Registry

Recruiting

• Conditions: Myotubular Myopathy; Myotubular Myopathy 1; Myotubular (Centronuclear) Myopathy; Centronuclear Myopathy; Centronuclear Myopathy, X-Linked; X-linked Myotubular Myopathy

• Registration Number: NCT04064307
• Lead Sponsor: Newcastle-upon-Tyne Hospitals NHS Trust

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.

Study Timeline

• Study Start: 2013-03-26
• Study First Submitted: 2018-03-06
• Study First Submitted QC: 2019-08-19
• Study First Posted: 2019-08-21
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-07
• Last Update Posted: 2025-04-09
• Primary Completion: 2025-05
• Study Completion: 2025-05

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 500

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Newcastle University; 🇬🇧 Newcastle Upon Tyne, Tyne and Wear, United Kingdom