Institute of Genetic Medicine

Staff Profile

Joanne Bullivant

Myotubular Myopathy Patient Registry Project Manager

Background

The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the ‘MTM and CNM Registry’) is an international disease-specific database. It is managed and operated here at the John Walton Muscular Dystrophy Research Centre in Newcastle University's Institute of Genetic Medicine, and as part of the TREAT-NMD Global Neuromuscular Network. The project is run in collaboration with, and funded by, the Myotubular Trust.

The aims of the Registry are 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

We welcome the registration of:

  • All patients with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy. Patients who are under the age of 18 can be registered by a parent or guardian.
  • 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.

More information about this project is available on the registry website at www.mtmcnmregistry.org.