MTM & CNM Patient Registry goes from strength to strength with a new publication

It is with great pleasure that we share the recent article, “The Myotubular and Centronuclear Myopathy Patient Registry: A multifunctional tool for translational research”, published in the prestigious journal, Neuromuscular Disorders. This informative article is a fascinating summary of the knowledge now available about our rare disease.

You can read the full article here.

“5.1 Summary points

This international open-ended registry collects genetic and longitudinal clinical data on individuals diagnosed with XLMTM or CNM, and female carriers of XLMTM.

Registrations are initiated by participants and validated by review of genetic report where it can be obtained. Data are reported by participants or clinicians depending on context or study requirements.

Registry data are available to third parties through registry enquiries and support all aspects of translational research in a multitude of ways.

The Registry also serves as a data collection tool for standalone research studies and can be developed in response to new research questions.

With the development the Registry is ideally placed to provide post-authorisation data for regulatory decision-making and can leverage the experience of other registries already doing so.”

Current key challenges, including obtaining copies of genetic reports, data completeness and patient and clinician engagement, are common across most patient registries and can be significantly diminished through consistent and sustainable investment.

The article analyses data from over 440 patient self reported registrations, on symptoms ranging from respiratory strength to nutritional support to liver issues. It confirms that the existence of the Myotubular and Centronuclear Myopathy Patient Registry, and the data within it, open avenues for improved diagnostics and targeted treatments. It also ensures that scientists and researchers know that there is a body of information they can draw on, and that there are patients who can be contacted about clinical trials and studies.

For years, when a diagnosis was given to the family of a new born baby, or to a young person or adult struggling with unexplained muscle weakness, the very rarity of myotubular and centronuclear myopathy made it seem like they were very much on their own. What this summary of the data from the Myotubular and Centronuclear Myopathy Patient Registry highlights is that there is a community of engaged patients around the world who are willing to share their information (anonymised) to further the knowledge of our rare disease. It is a very powerful link between the scientific and patient communities.

Role of the Myotubular Trust in founding the registry

Myotubular Trust played a pivotal role in bringing this registry about, having set it up in 2013. It was our vision that a well established source of patient data would be absolutely crucial in attracting innovation and research to our rare disease, and to create a deeper understanding of the condition. Once the Registry was well established under the management of the Myotubular Trust, with over 120 patients registered, it was then transferred to Newcastle University in order to guarantee the Registry’s longevity, academic excellence, and scientific and data management rigour.

This article analyses the data and summarises how much has been achieved, and how much knowledge has been built up in the Myotubular and Centronuclear Myopathy Patient Registry.

We are very proud of our association with the Registry and look forward to seeing it go from strength to strength.

Join the MTM & CNM Patient Registry

Click to join The MTM & CNM Patient Registry

Or please contact:-

Julie Bohill (Registry Manager) & Jess Page (Registry Co-ordinator)
John Walton Muscular Dystrophy Research Centre, Newcastle University
Translational and Clinical Research Institute, Newcastle upon Tyne, UK
email: mtmcnmregistry@newcastle.ac.uk
web: mtmcnmregistry.org
social: facebook / mtmcnmregistry