We have been asked to share this letter from Dr Baranello and Dr Dowling, who were the principal investigators on the tamoxifen clinical trial for xlmtm.

We at Myotubular Trust appreciate that the news about the halting of the tamoxifen clinical trial due to liver issues will be very difficult to hear. There is still a lot we don’t know about the role of the liver in XLMTM, so we hope that ongoing research will help to shed some light on this and allow better treatments with fewer side effects to be developed.

Myotubular Trust’s investment in XLMTM and the liver is still ongoing

Due to the generosity of all of those who fundraise for us, the Myotubular Trust has been able to respond quickly to clinical developments over the last few years and invest in three preclinical research grants studying the liver in XLMTM:

• In 2022, we awarded a grant of £135,000 to Dr Ana Buj Bello to assess what happens to liver cells after gene therapy treatment so better gene therapies can be developed.
• In 2023, in partnership with Muscular Dystrophy UK, we awarded a grant of £300,000 to Prof Jim Dowling to study mouse and human liver cell models of XLMTM to see how the liver works and responds to stress.
• In 2024, in partnership with Great Ormond Street Children’s Charity, we awarded a grant of £249,000 to Prof Francesco Saverio Tedesco to develop 3D ‘mini-muscles and livers’ with the XLMTM genetic change that can be used as preclinical models to test potential treatments.

The important role the MTM & CNM Patient Registry is playing to investigate liver function

The MTM & CNM Patient Registry is also actively collecting liver data through the Liver Health Questionnaire. This was developed by the MTM-CNM Liver Collaborative with help from a broad range of community experts. Data is welcomed from all patients in the community, whether or not liver symptoms have been experienced.  Please consider joining the Registry, or updating your registration.

The MTM-CNM Liver Collaborative has also been instrumental in creating the leaflet, “Liver Considerations for Myotubular and Centronuclear Myopathy”, for patients to share with their medical teams.
It is our hope that understanding the role of the liver in XLMTM will mean safer and potentially more successful clinical trials in future, and improved standards of care in the present.

Please join our upcoming Webinar to hear more Q&As about the TAM4MTM trial

In the meantime though we do understand that there may be many questions we all have about the liver, and we welcome you all to join the webinar with Drs Baranello and Dowling on Tuesday 3rd December at 5pm.  Please email contact@myotubulartrust.org to register your interest and you will be sent an individual Zoom link.