Registry impact and activity

On this page:

• Posters
• Registry enquiries
• Publications

Posters

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 2024 - Liver involvement in Myotubular and Centronuclear Myopathy: Review of one year’s data collected by the MTM & CNM Patient Registry" at the World Muscle Society (WMS) International Annual Congress 
• April 2024 : "Liver involvement in Myotubular and Centronuclear Myopathy: data from the MTM & CNM Patient Registry." at 8th International Congress Myology
• 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

 

Reqistry enquiries

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.

 

Publications

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