Myotubular and Centronuclear Myopathy Patient Registry

Overview

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 Type

  • Study Type: Observational [Patient Registry]
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: April 2020

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 are provided by the participants, and the genetic data are obtained by the Registry Curator via the genetic report. 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.

Clinical Trial Outcome Measures

Primary Measures

  • 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. 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.

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Newcastle-upon-Tyne Hospitals NHS Trust
  • Collaborator
    • Myotubular Trust
  • Provider of Information About this Clinical Study
    • Principal Investigator: Chiara Marini Bettolo, Consultant 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 – Newcastle-upon-Tyne Hospitals NHS Trust
  • Overall Official(s)
    • Chiara Marini Bettolo, Principal Investigator, Newcastle-upon-Tyne Hospitals NHS Trust
  • Overall Contact(s)
    • Jo Bullivant, 0044 191 241 8640, joanne.bullivant@newcastle.ac.uk

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