Liver considerations for Myotubular & Centronuclear Myopathy – a resource to share with your medical teams
Over the last few years there has been a growing understanding that some (but not all) people with MTM and CNM have occasionally experienced abnormal liver function blood test results. Very rarely there have been more severe liver related complications, and very sadly in particular, four deaths related to liver failure occurred in the gene therapy trial for XLMTM.
At the request of the patient community, a one-page resource has been put together for patients to take to their medical teams should they wish, to encourage more surveillance of the liver.
By gathering this information more consistently, it is hoped to better understand the liver in myotubular and centronuclear myopathy, most importantly to help with the day-to-day care of people with the conditions, and also to improve future research and treatment development.
Who created this leaflet?
Led by two patient organisations, MTM-CNM Family Connection and Myotubular Trust, an international MTM-CNM Liver Collaborative Working Group was set up in 2021, bringing together international experts to develop a better understanding of possible liver challenges experienced in the community.
As part of their collaboration, this information sheet was developed and below is a full list of the experts who contributed to the leaflet. It is hoped that by creating something with recommendations for liver testing and imaging that is clearly informed by experts in the fields of both muscle and liver, and MTM&CNM, it will be easier for patients and their families to bring this topic to the attention of their own medical teams.
Also in collaboration with the international MTM & CNM Patient Registry, the Liver Collaborative Working Group designed a liver function questionnaire to add to the patient registry, with the aim of expediting understanding of liver involvement in these conditions. The questionnaire launched in April 2023 and the first 6 months of data collection will be presented at the World Muscle Society meeting in October 2023.
Download the Liver Resource, dated Sept 2023 here (PDF)
Expert contributors:
- Dr Alan H. Beggs, Boston Children’s Hospital, Harvard Medical School, Boston, USA
- Prof. Anil Dhawan, Paediatric Liver, GI & Nutrition Centre, King’s College Hospital, London, UK
- Dr James J. Dowling, Hospital for Sick Children, Toronto, Canada
- Dr Reghan Foley, Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, USA
- Dr Robert J. Graham, Department of Anesthesiology, Boston Children’s Hospital, USA
- Prof Heinz Jungbluth, Neuromuscular Service, Evelina Children’s Hospital, and King’s College London, UK
- Dr Serena Kyrana, Paediatric Liver, GI & Nutrition Centre, King’s College Hospital NHS Foundation Trust, London, UK
- Dr Mike Lawlor, Medical College of Wisconsin, Milwaukee, WI, USA and Diverge Translational Science Laboratory
- Dr Nicol C. Voermans, Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands
- Representatives from both companies who have carried out clinical trials in myotubular and centronuclear myopathies
- Representatives from the patient groups MTM-CNM Family Connection and Myotubular Trust.
