Myotubular and Centronuclear Myopathy Patient Registry

 Centronuclear Myopathy / Posted 3 weeks ago

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 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.

  • Inclusion Criteria :
    • Ages Eligible for Study: Child, Adult, Older Adult
    • Sexes Eligible for Study: All
    • Accepts Healthy Volunteers: No
    • Eligible participants from any country. Registration is voluntary, and initiated by participants.
    • 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 start date : March 26, 2013
  • Study end date : December 2022
  • Wales-Based Study Contact : Please speak to your clinician
  • Principal Investigator : Chiara Marini Bettolo, (Newcastle-upon-Tyne Hospitals NHS Trust)
Contact details

Newcastle University, Newcastle Upon TyneNewcastle,England,NE1 3BZ  Show Phone Number joanne.bullivant@newcastle.ac.uk newcastle-muscle.org

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