Please join us for an educational webinar on Saturday 22nd April (10:00 am EDT/3:00 pm BST) to inform the community about potential liver issues. The webinar will also see the launch of an exciting partnership between the MTM-CNM Liver Collaborative Working Group and the International Myotubular & Centronuclear Myopathy Patient Registry.

Webinar Agenda:

* Historical overview of Liver issues in MTM/CNM

* Potential Liver issues related to MTM/CNM

* Clinical Care: How to follow liver issues in MTM/CNM

* Liver issues in the context of clinical trials

* MTM-CNM Liver Collaborative Working Group overview

* The Myotubular & Centronuclear Myopathy Patient Registry

* Summary, Q & A, and Next Steps

The MTM-CNM Liver Collaborative Working Group was initiated in August of 2021 by two patient organizations in the Myotubular and Centronuclear Myopathy community, MTM-CNM Family Connection (US), and Myotubular Trust (UK). The patient organizations launched a joint effort to gather academic researchers and medical experts in the community to seek a better understanding of liver challenges experienced in the community, from both a historical perspective on issues naturally occurring and in the context of emerging clinical trials.

Untitled Design

Myotubular and Centronuclear Myopathy (MTM and CNM) have historically been viewed as muscle diseases with significant impact on skeletal muscle. Supportive interventions for respiratory function have been emphasized as a primary, crucial component for successful management of the disease, especially in more severe presentations. Liver issues have been less noted, most likely underreported by individuals, and minimally mentioned in early studies and analyses of the disease. There have been documented rare occurrences of hepatic peliosis, and more commonly mentioned elevation in serum liver enzymes. More recently, there has been an evolving understanding of occurrences of hepatic cholestasis as an additional liver-related pathology associated with MTM/CNM. Also, within the context of the community’s first two clinical trials, there have been treatment-related adverse events reported in liver function, and within the gene therapy trial four reported deaths related to liver failure. Definitive understanding of potential causality, or correlation with possible underlying pre-existing liver dysfunction, has still not yet been determined, nor yet fully understood.

The mission of the MTM-CNM Liver Collaborative Working Group is to create a forum where stakeholders in the MTM-CNM community can come together for open conversations aimed at better understanding the liver in MTM/CNM, and other potential biological functions of myotubularin and related proteins. Group goals include ensuring collaborative efforts across the community to expedite these understandings, to de-risk future therapeutic development, and to better guide the care of individuals living with MTM and CNM today. The Liver Collaborative hopes to also foster shared data collection and future study design that directly integrates patient and family experiences and real-world evidence; encourages transparent sharing of natural history and pre-competitive data; and promotes efficient broadcasting of this critical knowledge across all programs and the patient and clinical community.

Over the course of the past year and a half, the collaborative working group has welcomed many stakeholders. Participating organizations, institutions, and industry members include: MTM-CNM Family Connection, Myotubular Trust, Myotubular and Centronuclear Myopathy Patient Registry of Newcastle University, Boston Children’s Hospital, King’s College Hospital, Diverge Translational Science Lab, National Institutes of Health, Sick Kids of Toronto, Radboud University Medical Centre, Astellas Gene Therapies, Dynacure, and Flamingo Therapeutics.

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