NEWS & UPDATES
Hope, Walk and Help – Milton Keynes Hope Walk 2026July 20, 2026Our long term friends and supporters, Suri and Harvey, very kindly instigated our very successful first Milton Keynes Hope Walk in memory of their […]
Patrick smashes it again for Myotubular Trust with ‘The Full Tour’!June 27, 2026Having already completed a half marathon in support of the Myotubular Trust in May, our long-time supporter, Patrick, completed The Tour of Tameside, […]
London Hope Walk 2026 — A Day of Solidarity, Memory, and HopeJune 17, 2026Our 2026 London Hope Walk was another very special day. Taking place on June 6th, we were honoured to spend it with some of our longest‑standing […]
More than ‘just a coffee morning’ for GeorgeJune 9, 2026Lili and Josh, whose son, George, has myotubular myopathy, and Lili’s friend, Amy, contacted us to say that they were hosting a coffee morning in […]
Patrick’s Manchester half marathonJune 3, 2026Patrick became a huge supporter of the Myotubular Trust having been barber to a young boy, Joshua, who had myotubular myopathy. In Patrick’s […]
10k run in honour of NathanielJune 3, 20262026 marked the year that Nathaniel, who had myotubular myopathy, would have turned 18. In honour of Nathaniel and to mark the milestone, […]
Joint Research Call with Great Ormond Street Hospital Charity (GOSH) 2026/27May 20, 2026Great Ormond Street Hospital Charity has announced their 2026/27national funding call in child health research. Under this funding call £2.5M is […]
Why not join us in London, Saturday 6th June 2026 for the first of three Hope Walks?April 30, 2026We are delighted to invite you to join us for the first of three Hope Walks in 2026. The first walk takes place on Saturday 6th June, in London. […]
TRIALS & STUDIES
Clinical Trials
If you are interested in taking part in a current or potential trial or study, it is important to let the doctors taking care of you know this – preferably your neuromuscular consultant or neurologist. They will let the centre/hospital conducting the trial know of your interest. It is sometimes possible the contact a centre and let them know yourself too, and they will then contact your local team.
The clinicaltrials.gov webpage will be updated whenever a new trial or study is approved and a centre or centres appointed.
Definition: a Clinical Trial is an experimental scientific project in which a medical treatment, strategy or device is tested to see if it is safe and effective to use in affected patients. See a step-by-step guide to ‘How Clinical Trials Are Approved’ here.
A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition (EXCEL)
Status: Recruiting
There is a need to understand liver problems that develop in people with XLMTM over time. The goal of the study is to learn how often people living with XLMTM experience problems related to blocked or reduced bile flow in the liver. This is called cholestasis.
This study is about collecting information only, to further scientific understanding of XLMTM. This is known as an observational study. Boys taking part in the study will be observed over time using liver-focused assessments. There will be no investigational medicines or therapies given as part of this study.
You can read the Astellas infographic here: Astellas XLMTM Community Information – EXCEL Study Overview May 2026
Read more on clinicaltrials.gov
A Study of ASP2957 in Male Patients With X Linked Myotubular Myopathy Who Need Ventilators
Status: Recruiting
Gene therapy aims to deliver a healthy copy of a faulty gene to help treat or improve a disease. Before a treatment such as gene therapy is approved and available, clinical trials are carried out to find out how well it works for people with certain conditions. The gene therapy in this clinical trial investigational, which means it has not been approved by any health authority for the treatment of XLMTM or for sale in any country. It can only be given as part of a clinical trial.
The investigational gene therapy in this trial, ASP2957, will be given by a single infusion into a vein (intravenous infusion). This dose cannot be stopped, reversed, or taken out.
You can read the Astellas infographic here: Astellas- XLMTM Community Information – VALOR Clinical Trial Overview Sept 2025
Read more on clinicaltrials.gov
Tamoxifen Therapy for X-linked Myotubular Myopathy – TAM4MTM
Status: Discontinued
The first patient was dosed in this Phase1/2 clinical trial – ’TAM4MTM’ – in 2021. It is was a multi-centre trial with sites in the UK, Canada & U.S., enrolling 16 paediatric patients, aged 2 years and older. It aimed to assess the effect of the drug, tamoxifen, on muscle strength and respiratory function in patients with x-linked myotubular myopathy. Safety and tolerability were also be monitored very closely, with gaps of 4 weeks between each participant joining the trial.
As Tamoxifen is a licensed drug, the trial was being run directly by academic institutions, and not by a company. It was a drug repurposing trial – where known drugs or compounds are tested in ‘new’ conditions.
TAM4MTM was a double-blinded, randomised, placebo-controlled, cross-over study. All participants received tamoxifen (ApoTamox) for approximately 6 months. Participants began on tamoxifen, or on a placebo. After 6 months, there was a ‘wash-out’ period of 3 months, at which point participants crossed-over to the other treatment (either drug or placebo) for 6 months.
Sadly this trial was stopped due to safety concerns in 2024. Read more.
AT132 for X-Linked Myotubular Myopathy – ASPIRO
Status: Active, not recruiting
Astellas Gene Therapy (Astellas Pharmaceutical, formerly Audentes Therapeutics) have taken virus mediated gene therapy to clinical trial. The first myotubular myopathy patient was dosed in September 2017 and preliminary results published in January 2018 and October 2019 were very encouraging.
However, very sadly in 2020 Audentes Therapeutics reported the deaths of three patients who had been dosed as part of this clinical trial. The trial was put on hold by the US regulators – the FDA. After detailed investigations and review, the trial recommenced in the summer of 2021, and dosing began again with one patient. Tragically, on the 14th September, it was announced that this child had died having suffered a liver-related serious adverse event in the weeks following dosage at the lower level. The trial is now on formal hold by the FDA while investigations are carried out.
Astellas provided an update on the AT132 trial on 17th December 2024 here. You can also read more about this trial on clinicaltrials.gov.
To understand more about the design and outcome of the ASPIRO trial study, please read this plain language publication (2025) ‘Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study’ PB Shieh, et al
DYN101 for X-Linked Myotubular Myopathy (MTM1) and Autosomal Dominant Centronuclear Myopathy (DNM2) – UNITE-CNM
Status: Discontinued
The first patient was dosed in this Phase 1/2 clinical trial – ‘Unite-CNM’ in January 2020. The trial was a European multi centre, ascending dose study to evaluate DYN101 in 18 patients aged 16 years of age, or older, with Centronuclear Myopathies caused by mutations in DNM2 or MTM1 for:
– safety
– tolerability
– pharmacokinetics (how the drug works around the body)
– exploratory efficacy (the effect on MTM and CNM symptoms).
Enrolled patients had a run-in period or were rolled over from an ongoing Natural History Study, sponsored by the Institute of Myology in France (collaborator: Dynacure). While the Phase 1/2 study was designed to primarily focuss on finding an optimal dose of the drug – with such measures as safety and tolerability over 12 weeks of treatment, other areas of effectiveness were also explored, including muscular function, respiratory function and muscle strength. Very sadly the trial was stopped in July 2022, read more here about why it was discontinued.
Natural History Studies
Definition: A Natural History Study follows a group of patients over time, to better understand how they are affected by a condition.
A European study of Females – both carriers of XLMTM and relatives – looking into the muscle symptoms of this group of females. Led by Dr Nicol Voermans, Radboud University Medical Centre, The Netherlands
Read the Study Invitation Status: Recruiting
Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies (NatHis-CNM) MTM1, DNM2 & BIN1
Read about this study on clinicaltrials.gov Status: Completed
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) 2014 – 2017
Read about this study on clinicaltrials.gov Status: Completed
A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) – RECENSUS
Read about this study on clinicaltrials.gov Status: Completed
A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects – INCEPTUS
Read about this study on clinicaltrials.gov Status: Completed
Other Links
Muscular Dystrophy UK Clinical trials FAQ page and information about Therapeutic development
CISCRP Patients In Clinical Trials Education page
MTM-CNM Family Connection Basic Overview of Drug Approval Process
American Society for Gene and Cell Therapy https://www.asgct.org/education/x-linked-myotubular-myopathy
Genethon Academic Research and Ana Buj-Bello’s Research Lab (Gene Therapy)
The charity LifeArc has published expert advice to support work around repurposing medicines LifeArc’s repurposing advice can be downloaded here (PDF)
How Clinical Trials Are Approved
Developing a Protocol
When a research team have a proposal for a clinical trial, they must first develop a trial plan, called a protocol. This will cover such things as;
· the aim of the trial and how important the issue is
· the design of the trial
· the patients the research team would like to recruit
· whether people are likely to want to take part
· how they plan to analyse the results
· whether the research team have thought about all the possible issues
Peer Review
When the research team looks for funding from other organisations such as charities like the Myotubular Trust, the charity will put the protocol up for ‘peer review’. The peer review group includes doctors, other health care professionals and lay members of the patient community. In peer review opinions are sought from a range of specific experts who can comment on different aspects of the protocol.
Ethical Approval
Before a clinical trial can be open to patients, the protocol must be reviewed by a Research Ethics Committee, or REC. There are lots of committees up and down the country, and they are organised by the Health Research Authority (HRA).
Each committee has up to 15 members who are not involved with the trial in any way. At least 1 in 3 of these people are members of the public who are not researchers or health professionals.
RECs look after the rights, safety, dignity and well being of those taking part in research in the NHS. They assess each trial protocol against a set of standards.
They look at things like:
· the aim of the trial and how important the issue is for patients
· how the research team plan to recruit people
· whether the likely benefits are greater than the possible risks
· the qualifications and experience of the team running the trial
· whether it’s been peer reviewed
· if the patient information sheet (PIS) is complete and easy to understand
· if extra information such as GP letters, patient questionnaires or forms are well written
The committee then decides if the trial is safe and ethical to do, and whether it can go ahead or not.
The committee can ask the research team to make changes to the protocol or the patient information sheet before they give the final go ahead.
Trial Authorisation
All clinical trials of medicines (and studies on medical devices) also have to be authorised by the UK government – the Medicines and Healthcare Products Regulatory Agency (MHRA). This approval is called Clinical Trial Authorisation (CTA). MHRA decide whether it is safe to proceed with a trial, and whether the study proposed is likely to produce results.
Hospital Authorisation
Each hospital that wants to take part in the trial has to get approval from their NHS Research and Development (R and D) department. You may hear this called site specific assessment (SSA).
This assessment makes sure that the hospital has the staff, time, equipment and expertise to carry out the trial safely. The R and D department also look at other trials already running at the hospital. They may not want to run two trials recruiting similar patients, for example.
Once the R and D department has given permission for the hospital to run the trial, the trial team will arrange training for the hospital staff. This could be online or in person and should include anyone involved with the trial including doctors, research nurses, pharmacists and radiographers.
Once everyone is familiar with the trial and all the approvals are in place, they can start recruiting patients.
During The Trial
The researchers are not allowed to change the protocol without telling the ethics committee. They must also tell the committee if there are any serious unexpected side effects.
The committee can stop the trial at any time if they have any concerns about the welfare of the people taking part.
At the end of the trial, the ethics committee gets a copy of the results.
Other Checks
Depending on the trial, the research team may also need to get the go ahead from other groups as well as an ethics committee.
For example, a trial may use scans or treatment that would expose people to more radiation that they would have had otherwise. In this case, the team must get a certificate from a specialist committee to give them permission to do this.