We are delighted to announce that the Myotubular Trust are co-funding a clinical trial for x-linked myotubular myopathy (XLMTM) with the charity arm of the world-renowned Great Ormond St. Hospital (GOSH) and Sparks, the children’s medical research charity.
If this study is successful, it could provide the first widely available therapy for x-linked myotubular myopathy, either as a stand-alone treatment for patients not eligible for gene therapy or other treatments, or as a valuable additional treatment.
In earlier work funded by Myotubular Trust grants (2014-2016), there was an incidental, unexpected finding that Tamoxifen, the well known breast cancer drug, can significantly improve the symptoms associated with x-linked myotubular myopathy. Tamoxifen also has the benefit of having low side effects in both adults and children. It is widely available, not costly and already being taken safely by children for a range of other conditions.
The aim of this new 2020 grant is to prepare for, and run a clinical trial which will ultimately test how well tamoxifen works in improving motor and respiratory function in patients. Safety and tolerability will also be carefully monitored. The trial will be led by Dr Giovanni Baranello, and Professor Francesco Muntoni at the UCL Great Ormond Street Institute of Child Health.
This UK study, which will involve children affected by XLMTM in the UK, is part of a global study which will be also carried out in three other clinical sites in Canada and USA. Data will be collected during the trial to assess efficacy (how well it works), and safety, of tamoxifen in XLMTM patients, including motor and respiratory function.
The next steps will be to set up the clinical trial team at GOSH, and to obtain the necessary Regulatory and Ethical approvals. Before any clinical trial can begin to recruit patients, the trial design (the protocol) has to receive Clinical Trial Authorisation from the Regulators – in the UK this is the Medicines and Healthcare Products Regulatory Agency (MHRA). At the same time, the hospital carrying out the trial (the trial centre) must get permission from their Research and Development Department, and also apply to an independent Research Ethics Committee for Ethical approval.
Once these approvals and authorisations have been obtained, the trial can then begin to recruit patients. If you would like to register your interest in this, or any other trial for neuromuscular conditions at Great Ormond Street Hospital, please see the attached letter (PDF) from the Neuromuscular team at GOSH and send information to them on clinicaltrials.neuromuscular@gosh.nhs.uk
Funding the preparation
New research grants take time to get up and running, particularly when they involve the complexity of setting up a clinical trial team. Therefore the Myotubular Trust had already made a second, separate grant to the GOSH research team. This grant funds a clinical trial co-ordinator who is already working on the regulatory and ethical paperwork and processes to ensure that the trial can begin as soon as possible.
Current grant has already funded the work of identifying dose of Tamoxifen
Kiki Syrad, Director of Grants and Impact at GOSH Charity and Sparks charity, said: “Year on year we are amazed by the quality and diversity of applications we receive from researchers across the UK and the life-changing potential their projects have. I am excited to see how this year’s projects progress. Collaboration in the field of rare disease research is of fundamental importance, so I am also delighted that GOSH Charity and Sparks have been able to partner with other rare disease charities through this funding call. We will achieve more together than we could alone and that is crucial if we’re going to drive new, urgently needed ways to diagnose, treat and cure rare diseases that affect children.”
A sincere thank you to the families, fundraisers and supporters who make it possible for us to fund excellent research. Whether it is work that uncovers such unexpected and beneficial findings, or the essential investigations to assess vital issues such as potential patient dosage …. or something as fundamental as a clinical trial. It simply would not be possible without you.
