A new research publication based on patient registry data has shed light on the prevalence of liver issues in myotubular and centronuclear myopathy (MTM/CNM) and current clinical practice for monitoring liver health, from birth through to adulthood. The research highlights the need for greater awareness and more frequent monitoring of liver health in people with MTM/CNM.

Read the article here:
Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care, Bohill et al (2006)

Liver disease in Myotubular and Centronuclear Myopathy

Over the past 5-6 years, it has become clear that some (but not all) people, including infants and children with MTM/CNM, can have problems with their livers. Unfortunately, three clinical trials – one of which was testing a potential gene therapy – were stopped due to unexpected side effects in the liver, which sadly were fatal for four people on the gene therapy trial.

To improve the care of people with these conditions, and better predict potential side effects of treatments in clinical trials, we need to improve our understanding of how the liver is affected in MTM/CNM.

Liver Collaborative Working Group

To help build more knowledge of liver issues, the UK Myotubular Trust and US MTM-CNM Family Connection established the MTM-CNM Liver Collaborative Working Group in 2021, bringing together academic researchers, medical experts, industry partners, and patient advocates.

The Liver Collaborative Working Group developed a questionnaire about liver health and tested it with people affected by MTM/CNM and their caregivers to check it was suitable. The questionnaire was then added to the MTM and CNM Registry in April 2023 for the wider patient community to complete.

Registry Study

The Liver Collaborative Working Group analysed data from 219 people who had completed the liver questionnaire and had genetic confirmation of an XLMTM or CNM diagnosis. The results showed that liver problems were more common in people with severe XLMTM, who also had heart and/or lung issues and limited mobility. This suggests that there may be a link between liver health and severity of XLMTM.

While some people with CNM had liver problems, these occurred less frequently than in people with XLMTM. Liver problems in people with CNM did not seem to be linked with the occurrence of heart and/or lung issues.

In addition, the study found that some women with XLMTM had issues with their livers. This is an important finding as previously, women with XLMTM were not thought to experience liver issues.

30% of the study participants had never had blood tests to assess their liver function, and for those that had, the extent of liver monitoring varied. This highlights the need for routine liver screening on a regular basis.

Recommendations for liver monitoring

Given the prevalence and severity of complications arising from liver issues in XLMTM, the Liver Collaborative Working Group recommends that regular liver monitoring should be part of the new standard of care for people with XLMTM. This should include liver function blood testing and liver imaging, such as ultrasound.

What actions should families take based on this study?

Families living with MTM/CNM – including women with XLMTM – are encouraged to complete their liver health questionnaire in the MTM and CNM Registry if they have not already done so. This will help to inform future research on liver health in MTM/CNM and improve clinical care.

Families should also share the information sheet on liver health in MTM/CNM with their clinical teams. This will help to raise awareness of liver issues in MTM/CNM and encourage more frequent liver monitoring.

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