Registry impact and activity
On this page:
We regularly present registry data in posters at patient or scientific meetings and conferences, to improve understanding of these conditions and raise awareness of the registry. Posters from the last 2 years are available to view below:
- October 2023: “Liver involvement in Myotubular and Centronuclear Myopathy: data from the MTM & CNM Patient Registry” at the World Muscle Society (WMS) International Annual Congress
- June 2023: "A Real-World Analysis of an XLMTM Patient Cohort from the MTM & CNM International Patient Registry” at the Congress of the European Paediatric Neurology Society (EPNS)
- March 2023: “MTM & CNM International Patient Registry: A tool to accelerate the pace of research” at the UK Neuromuscular Translational Research Conference
- October 2022: “New developments and data highlights in the international myotubular and centronuclear myopathy patient registry” at the World Muscle Society (WMS) International Annual Congress
- July 2022: “Clinical and genetic features of the myotubular and centronuclear myopathy patient registry cohort" at the International Congress on Neuromuscular Diseases (ICNMD)
- May 2022: "Myotubular & Centronuclear Myopathy Patient Registry: An international research database to accelerate the pace of research and treatment" at the ZNM - Zusammen Stark International CNM Family Conference
- October 2021: "Myotubular and Centronuclear Myopathy Patient Registry: Accelerating the pace of research and treatment" at the World Muscle Society (WMS) International Annual Congress
- June 2021: "Myotubular & Centronuclear Myopathy Patient Registry: Accelerating the pace of research and treatment" at the Asian-Oceanian Myology Center Meeting
Anyone can make a request to use the registry or its data to support their research, and this is called a registry enquiry. Each enquiry is reviewed and voted on by the Registry Steering Committee to check whether it is appropriate, in-line with registry aims, and in the best interests of patients. To proceed, enquiries must be approved by at least two-thirds (67%) of committee members.
Registry enquiries approved to date:
- Academic: Data on neurological involvement in XLMTM
- Academic and patient group collaboration: Expansion of registry questionnaires to collect data on liver involvement.
- Industry: Data on genetically confirmed, living and deceased MTM and CNM patients, examining disease severity by affected gene.
- Industry: Data on living and deceased XLMTM patients with genetic confirmation.
- Academic: Recruitment for a survey on fatigue, social activities, sleep and mood in young people with neuromuscular conditions.
- Industry: Recruitment for interventional clinical trial.
- Industry: Recruitment for a survey on wearable devices for motion capture.
- Academic: Recruitment for a survey on conception, pregnancy and the postpartum period in patients with neuromuscular diseases.
- Academic: Recruitment for a survey on the impact of swallowing difficulties on individuals with a neuromuscular condition and their carers.
- Academic: Recruitment for a survey on muscular symptoms of female XLMTM carriers in Europe.
- Academic: Recruitment for a survey on the use and effects of Acetylcholinesterase Inhibitors (Mestinon) in patients with CNM.
- Individual patient: Data on patient numbers by causative gene.
- Academic: Recruitment for a survey to understand the range of experiences of power wheelchair users in cities, towns and on public transport.
The registry has contributed to the following publications:
- Joanne Bullivant, Anando Sen, Jess Page, Robert J. Graham, Heinz Jungbluth, Ulrike Schara-Schmidt, Orla Lynch, Carsten Bönnemann, Aart den Hollander, Anne Lennox, Dionne Moat, Claudia Saegert, Kimberly Amburgey, Ana Buj-Bello, James J. Dowling, Chiara Marini-Bettolo (2023) The Myotubular and Centronuclear Myopathy Patient Registry: A multifunctional tool for translational research. Neuromuscular Disorders, https://doi.org/10.1016/j.nmd.2023.10.014.
- Ursula Moore, Sarah Shira Emmons, Laura Rufibach, V Straub, Jordi Diaz-Manera, Michela Guglieri (2022). Patient reported pregnancy and birth outcomes in genetic neuromuscular diseases. Neuromuscular Disorders, 33, p241-249. https://doi.org/10.1016/j.nmd.2022.12.013
- Reumers, S. F. I., Braun, F., Spillane, J. E., Böhm, J., Pennings, M., Schouten, M., van der Kooi, A. J., Foley, A. R., Bönnemann, C. G., Kamsteeg, E. J., Erasmus, C. E., Schara-Schmidt, U., Jungbluth, H., & Voermans, N. C. (2021). Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study. Neurology, 97(5), e501–e512. https://doi.org/10.1212/WNL.0000000000012236
- Annoussamy, M., Eggenspieler, D., Furlong, P. and Servais, L. (2020). 'ActiMyoⓇ from the patients, families and caregivers' perspectives: An international cross-sectional survey on patients with a neuromuscular disease'. Neuromuscular Disorders, 30, p118. https://doi.org/10.1016/j.nmd.2020.08.248