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The Myotubular and Centronuclear Myopathy Patient Registry

Version 2 2021-06-17, 10:25
Version 1 2021-06-14, 15:34
posted on 2021-06-17, 10:25 authored by Joanne BullivantJoanne Bullivant, Chiara Marini-Betollo, Ben PorterBen Porter

The Myotubular and Centronuclear Myopathy Patient Registry (‘MTM and CNM Registry’) is an international database specific to these conditions, operated by Newcastle University in the UK as part of the global TREAT-NMD Neuromuscular Network. The registry was developed in partnership with the MTM and CNM communities and is jointly funded by the Myotubular Trust, Muscular Dystrophy UK, and Audentes Therapeutics.

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.

The registry dataset includes 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.



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