Patient Registry

The Myotubular and Centronuclear Myopathy Patient Registry

The Patient Registry is an international database, specific to the genes causing myotubular and centronuclear myopathy. It is operated by the John Walton Muscular Dystrophy Research Centre at Newcastle University in the UK, in partnership with the Myotubular Trust, and affiliated to the international TREAT-NMD Network. The registry has been developed in partnership with a number of leading neuromuscular researchers and patient organisations and is available in 10 languages.

THE PATIENT REGISTRY:
– Helps identify patients for relevant clinical trials as they become available
– Encourages further research into myotubular and centronuclear myopathy
– Provides researchers with specific patient information to support their research
– Assists 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 REGISTRY WELCOMES:
– 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.

If these categories don’t apply to you, but you would like to receive updates and newsletters from the registry, please email mtmcnmregistry@newcastle.ac.uk and ask to be added to their general mailing list.

Downloadable Brochure

2023.03 MTMCNM Registry Brochure for patients interested in joining.

2023.03 MTMCNM Registry 1 page flyer for clinicians and researchers wishing to find out more.

Please read the latest Myotubular & Centronuclear Myopathy Patient Registry Newsletter here

If you have any questions, please contact the registry manager:-

Julie Bohill
Myotubular and Centronuclear Myopathy Patient Registry
John Walton Muscular Dystrophy Research Centre
Newcastle University
Newcastle upon Tyne, NE1 3BZ

Telephone: 0191 241 8640
Email: mtmcnmregistry@newcastle.ac.uk

Spring 2025 update:

The registry’s 6-month Data Summary (see below or follow this link) provides an update on registry coverage and data highlights. The patient registry now has 554 participants from 57 countries – an increase in 49 patients since the beginning of 2024. This reflects the international efforts to promote participation in the registry from patient organisations and also via clinical networks.

The two most recently added sections are Liver Health and Nutrition. If you haven’t yet had a chance to complete these questions,  it takes just a few minutes to log-on and update your record.

The MTM and CNM patient population for both living and deceased patients and are inviting ALL to contribute this so that they can get a representative sample – even if you have never had any liver or nutritional problems or symptoms.

They have added this section because some (but not all) people with MTM and CNM have occasionally experienced abnormal liver function blood test results. Very rarely there are more severe liver related complications. By collecting this information, it is hoped to better understand the liver in myotubular and centronuclear myopathy, to help with the day-to-day care of people with the conditions, and to improve future research and treatment development.

You are invited to please log in to your account to complete the new sections called “Liver function” and “Nutrition”.

How to register or update your information:

If you are not yet registered, please select the  register option, whereafter you can complete all the questionnaires including about your liver health. You can read more about the benefits of joining a patient registry here.

If you are already registered, but think you have forgotten your password please visit: mtmcnmregistry.org and use the ‘Forgot password’ link to set a new one.

Please also check that the rest of your questionnaire responses are still accurate and that nothing is missing (particularly the genetic report).

Data presented internationally at the WMS Annual Congress:

The MTM & CNM Registry analysed the data provided and presented it at the 28^th and 29^th  International Annual Congress of the World Muscle Society.

Watch, read and find out more..

You can read the latest Spring 2025 newsletter here You can watch the 2023 Liver Webinar on YouTube, which provides more information about potential liver involvement in MTM/CNM, as well as the MTM/CNM Patient Registry.  Also feel free to download Q&A for the Liver Webinar here: Liver Webinar Q&A FINAL July 2023

Registry Demographics

The aim of the Myotubular and Centronuclear Myopathy Patient Registry is to be the most comprehensive there is for this specific condition, to give us a good insight into the numbers of people affected.

To see an overview of the registry data, please view the latest demographic information here.