Update on the Myotubular and Centronuclear Myopathy Patient Registry: October 2020

The Myotubular and Centronuclear Myopathy (MTM and CNM) Patient Registry is an international, patient-reported database created to capture clinical and genetic data from patients who have been diagnosed with these ultra-rare genetic conditions, and on female carriers of x-linked myotubular myopathy. The registry provides an aid to clinical study recruitment and an invaluable resource to the research community.

Established in March 2013 by the Myotubular Trust in collaboration with TREAT-NMD (an international neuromuscular network of clinicians and specialist centres) and other key opinion leaders, it was transferred to the John Walton Muscular Dystrophy Research Centre at Newcastle University in 2015.

Information in the registry is collected through a secure online portal, directly from the participants (or from a parent or guardian if the patient is under 18). The registry also welcomes registration of deceased patients, if their family wishes to contribute their data. Online registration is available to all of these groups and can be done in English, German, Spanish, Polish, Italian or French. The main purpose of the registry is to aid the rapid identification of eligible patients for clinical studies when approached by researchers and pharmaceutical companies. The registry also disseminates disease-relevant information to participants; provides a source of information to academics, industry and healthcare professionals to support research and the development of standards of care; and seeks to provide support to the MTM and CNM community.

To date, a total of 340 participants are registered with the MTM and CNM Patient Registry. Participants have registered from across Africa, Europe, Asia, the Americas and Oceania, reflecting the registry’s truly global nature.

Recruitment to clinical trials and research studies (including surveys) is one of the main purposes of the registry and has proven to be highly successful. To date the registry has been involved in more than 10 clinical trial/research enquiries. As of 2020, participants have been informed of, and recruited to, a number of such studies which includes:

  • An international online survey, led by Radboud University Medical Centre in the Netherlands, into possible symptoms affecting the muscles in female carriers of an MTM1 gene mutation. The study aim is to visualise the entire spectrum of symptoms in female carriers.
    • In the future, once the COVID-19 situation allows, a possible second part of the study will be carried out. This will involve simple neurological tests, the results of which will improve researchers’ understanding of the disease and help to improve healthcare for female x-linked MTM carriers.
  • An international online survey* developed by Parent Project Muscular Dystrophy (PPMD) and Sysnav, for patients living with a neuromuscular disease (including MTM and CNM), their families, and caregivers. The aim of this survey is to understand the opinion, expectations, and concerns regarding the use of a wearable device in clinical trials, as well as the clinical meaningfulness of potential outputs.
  • An international online survey by Newcastle University in the UK about fertility and pregnancy in women with muscle disease (including MTM and CNM). Researchers would like to better understand the challenges that fertility and pregnancy may present to women living with a muscle disease, with the ultimate aim of improving standards of care in this broad area.

The MTM and CNM Patient Registry is a highly successful venture for participants, clinicians and academics alike, however, there is always room for improvement. With that in mind, we are hoping to add the ability for doctors to contribute clinical data from their consenting patients, which may help to address the patient language barrier and issues related to internet access. Also, clinician verification of patient-entered data will help to assure data quality.

For further information about the MTM and CNM Patient Registry, please visit the registry website or email mtmcnmregistry@treat-nmd.eu.

We hope to provide a more extensive update of the registry and its associated updates to the MTM and CNM Patient Community in 2021.

Further information about this survey can be found below.

The Myotubular and Centronuclear Myopathy Patient Registry logo.

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