Myotubular and Centronuclear Myopathy Patient Registry

July 8, 2022 updated by: Chiara Marini Bettolo, Newcastle-upon-Tyne Hospitals NHS Trust

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.

Study Overview

Status

Recruiting

Conditions

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 and Muscular Dystrophy UK.

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 Type

Observational

Enrollment (Anticipated)

500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United Kingdom
    • Tyne And Wear
      • Newcastle Upon Tyne, Tyne And Wear, United Kingdom, NE1 3BZ
        • Recruiting
        • Newcastle University
        • Contact:
        • Principal Investigator:
          • Chiara Marini Bettolo

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Eligible participants from any country. Registration is voluntary, and initiated by participants.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Patient questionnaire
Time Frame: 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.
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Newcastle-upon-Tyne Hospitals NHS Trust

Investigators

  • Principal Investigator: Chiara Marini Bettolo, Newcastle-upon-Tyne Hospitals NHS Trust

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 26, 2013

Primary Completion (Anticipated)

December 1, 2022

Study Completion (Anticipated)

December 1, 2022

Study Registration Dates

First Submitted

March 6, 2018

First Submitted That Met QC Criteria

August 19, 2019

First Posted (Actual)

August 21, 2019

Study Record Updates

Last Update Posted (Actual)

July 12, 2022

Last Update Submitted That Met QC Criteria

July 8, 2022

Last Verified

July 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • NUTH 7729

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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