February 2022: Call for Participation in Myotubular and Centronuclear Myopathy Research
If you are a healthcare professional caring for patients with myotubular or centronuclear myopathy anywhere in the world, you are invited to support translational research in these conditions by participating in the Myotubular and Centronuclear Myopathy (MTM & CNM) Patient Registry. In return for minimal time and effort, your contribution will significantly enhance the quality of the data available to researchers in this area and improve our understanding of these conditions.
The MTM & CNM Registry is a global, disease-specific, longitudinal research database which has been collecting demographic, genetic and clinical data on affected individuals (living and deceased) and female carriers of XLMTM since 2013. Previously collecting only patient-reported data, recent grant funding has allowed the addition of a clinician-reported section of the questionnaires. We are now looking for early adopters to help us grow this feature.
On 27-01-2022 the registry contained 398 participants (259 male and 139 female), of which 40 were reported deceased (39 male and 1 female) and 358 living (220 male and 138 female). Of the 138 living females, 70 were registered as female carriers of XLMTM and 68 as patients. 51 countries are represented, with the largest cohorts being UK & Ireland (103), United States (99), and Germany (34). Causative genes reported include MTM1, DNM2, BIN1, RYR1 and TTN. Questionnaires are available in English, German, French, Spanish, Italian, Polish, Hindi, and Brazilian Portuguese, with more languages to follow in 2022.
The participants do most of the work themselves; self-enrolling, providing e-consent, providing most of the data and updating it every 6 months. In this new development, they will select their clinician who will be invited to log in and provide the following information (where available) for that patient:
1. Confirmation of diagnosis
2. Genetic variant (or upload report)
3. Biopsy report upload
4. Best and current motor function
5. Ventilation status, frequency, type
If you would like to take part or find out more, please contact the Registry Curator, Jo Bullivant at mtmcnmregistry@newcastle.ac.uk.
What are the centronuclear myopathies?
The centronuclear myopathies are rare congenital neuromuscular conditions characterised by the central location of the nucleus in muscle cells and a highly variable clinical picture. The presumably most common form is the ultra-rare X-linked myotubular myopathy (XLMTM) with an estimated incidence of 1 in 50,000-100,000 male births and a usually severe phenotype (Jungbluth et al. 2008).
Why should patients join the MTM & CNM Registry?
The registry provides important data to answer research questions and inform clinical trial feasibility studies and supports recruitment into clinical trials and other research studies. It also serves as an important communication and engagement tool for the participants, who receive information about opportunities to take part in research, as well as newsletters and research updates relevant to their disease. Patients can find out more, register or log in on the website: mtmcnmregistry.org