Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care

Liver health issues in X-linked myotubular myopathy and centronuclear myopathies have historically been under-recognized, with liver monitoring not a routine focus of clinical care. Anecdotal case reports and liver-related adverse events in recent clinical trials highlight the growing need to better understand liver involvement in this population. A patient-led initiative brought together a multi-stakeholder expert working group, the 'Myotubular and Centronuclear Myopathy Global Liver Collaborative' who developed a liver health questionnaire to collect longitudinal patient-reported liver health data. Data from 219 participants was analysed and liver abnormalities were found to be most prevalent in myotubular myopathy patients with 36 % of affected males having abnormal liver function tests with liver issues also reported by symptomatic female carriers. Patients with liver abnormalities were also more likely to require invasive ventilation and had poorer motor function, suggesting a link between liver health and overall disease severity. Significant variation in liver monitoring was observed, with 30 % of participants never having undergone liver function blood tests demonstrating the need for routine liver screening to inform standards of care and guide clinical management. The patient-driven Liver Collaborative has been instrumental in raising awareness in liver related issues with clinical and patient communities.