Why not join us in London, Saturday 6th June 2026 for the first of three Hope Walks?
Astellas Pharmaceuticals announce dosing of first patient with X-Linked Myotubular Myopathy in VALOR gene therapy trial
Liver Involvement in Myotubular and Centronuclear Myopathy: Findings of a Registry Study
New research brings hope for myotubular myopathy, by revealing how muscle cells control their growth
Families and friends unite for the Liverpool and London Hope Walks, 2025
New infographics help to provide clear information about the VALOR clinical trial and EXCEL study
Significant step forward in gene therapy for x-linked myotubular myopathy
LIVERPOOL HOPE WALK 2025
Astellas Pharmaceuticals have announced today that the first patient has been dosed in VALOR, their gene therapy trial for x-linked myotubular myopathy. Please read the letter to the patient community here (PDF). Astellas Pharmaceuticals XLMTM Community Letter-27...
A new research publication based on patient registry data has shed light on the prevalence of liver issues in myotubular and centronuclear myopathy (MTM/CNM) and current clinical practice for monitoring liver health, from birth through to adulthood. The research...
The laboratory of Dr Karim Hnia at INSERM in Toulouse recently published the findings of their investigation into the question, Is the mTORC1 pathway a route to treatment in x-linked myotubular myopathy (XLMTM)? mTORC1 in our cells is a 'master regulator' of muscle...
Astellas Pharma Inc. have released two new infographics in PDF format to help provide our XLMTM patient community with clear information about the EXCEL Study and VALOR clinical trial. The infographics follow the recent Webinar in which Astellas provided our patient...
On 15th July 2025, Astellas Pharmaceuticals Inc. announced that they have received approval from the US Drug Regulator, the FDA, to move forward with a Phase 1/2 clinical trial of their gene therapy product ASP2957. The trial - which will be called VALOR - will...
Joint Research Call with Great Ormond Street Hospital Charity (GOSH) 2025/26 Great Ormond Street Hospital Charity has announced their 2025/26 national funding call in child health research. Under this funding call £2.5M is available to support eligible child health...
To mark Rare Disease Day 2025, we were invited to participate in a podcast for Genomics England to explore the challenges and opportunities shaping the future of rare condition therapies. The podcast was hosted by Dr Ana Lisa Tavares, Clinical Lead for Rare Disease...
On 3rd December 2024, the Myotubular Trust hosted a webinar following the news that the TAM4MTM trial had been stopped due to the impact the drug tamoxifen had on the liver function of two trial participants. The webinar not only provided an opportunity for our...
Today 17th December 2024, Astellas Pharmaceuticals shared an update about:-The status of the XLMTM gene therapy programme at AstellasThe EXCEL liver natural studyThe XLMTM Patient Insights PanelPlease read their letter below or download it here:...
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...
We are pleased to announce a new 3 year grant award of £248,940 to Prof Francesco Saverio Tedesco at University College London (UCL). This grant is being funded in partnership with Great Ormond Street Hospital (GOSH) Children’s Charity through their annual National...
By Zak Hughes As the landscape of clinical trials in MTM/CNM grows in momentum and scope, it is incredibly important to understand exactly what a clinical trial can entail and take this knowledge forward into the planning stages of any future trials. Biomedical...
We are very pleased to announce a 3 year grant award to Dr Jim Dowling and his team at Sick Kids Hospital, Toronto, Canada, to study Liver disease in X-Linked Myotubular Myopathy. This grant of £300,000 is awarded in partnership with Muscular Dystrophy UK, who are...
It is with great pleasure that we share the recent article, "The Myotubular and Centronuclear Myopathy Patient Registry: A multifunctional tool for translational research”, published in the prestigious journal, Neuromuscular Disorders. This informative article is a...
Appearing in the same December 23 The Lancet issue as the recent publication of the latest preliminary data on the ASPIRO gene therapy trial (Astellas Pharmaceuticals), a comment entitled 'Gene therapy for X-linked Myotubular Myopathy: the challenges', (Voermans et...
On 15 November, The Lancet Neurology announced a new publication of preliminary data analysis from the recent ASPIRO trial. ASPIRO is Astellas Pharmaceutical's Gene Therapy Study for the treatment of patients with x-linked Myotubular Myopathy (XLMTM). The trial was...
At the 2023 World Muscle Society meeting this October, the MTM-CNM Liver Collaborative Working Group were delighted to be able to present new data from the Myotubular and Centroncular Myopathy Patient Registry. A new liver section was added to the Registry on 22nd...
Liver considerations for Myotubular & Centronuclear Myopathy – a resource to share with your medical teams Over the last few years there has been a growing understanding that some (but not all) people with MTM and CNM have occasionally experienced abnormal liver...
The National Institute for Health and Care Research (NIHR) would like to invite you, and your healthcare professionals to a Webinar on severe neuromuscular diseases in children, on Wednesday 12th July 2003 from 7pm to 8pm (UK time). The public are invited to ask...
Thursday 8th June, 2023 Astellas Gene Therapies today announced that they had bought the exclusive worldwide license of a new gene therapy, developed by the biotech start-up Kate Therapeutics. This new gene therapy approach, ‘KT430” delivers a working copy of the mtm1...
The Myotubular and Centronuclear Myopathy Patient Registry has added an important new section to the Registry's questionnaires, aimed to collect vital information about liver issues in the MTM and CNM patient population for both living and deceased patients and are...
April 22nd 2023 @ 3pm (UK time) SAVE THE DATE: Hope you can join us for an upcoming webinar on "Liver Issues in MTM and CNM". Come hear about current work being done to better understand liver issues in MTM and CNM, and learn more about how you can help advance the...
The laboratory of Dr Ana Buj Bello established pioneering work on gene replacement therapy for X-linked myotubular myopathy (XLMTM) using adeno-associated viral (AAV) vectors. This ground-breaking work led to the initiation of the first ever clinical trial in patients...
As part of a grant made by the Myotubular Trust, the team of Professor Jim Dowling at Sick Kids Toronto, Canada, uncovered a new disease-causing mechanism. This discovery was published earlier this year (2022) and highlights how targeting this mechanism could be a...
We are delighted to announce our 2022 call for grants, particularly as this is a joint grant call with Muscular Dystrophy UK, with whom we are delighted to be partnering. For this year’s grant call, we are encouraging research into the involvement of liver...
Have you ever been the primary carer for someone with X-linked myotubular myopathy (XLMTM)? If you have, we wish to invite you to take part in a new study. Most patients with XLMTM have severe physical limitations that require substantial support from families and...
TAM4MTM (tamoxifen repurposing trial) is now open and recruiting in the UK The tamoxifen trial 'TAM4MTM' is open and recruiting at Great Ormond Street Hospital for Children (GOSH) in London, UK. This arm of the Study will recruit four child patients with x-linked...
Your invitation to take part in a new qualitative study on 'Burden Of and Lessons Learnt from Trials' by our patient community Patient organisations and our communities have learnt important lessons from the participation and involvement in the first studies for...
A group of some of the world’s most eminent neuromuscular experts have published the findings of INCEPTUS - the three year natural history study of young boys with x-linked myotubular myopathy. Disease related events, respiratory and motor function, feeding,...
We are deeply sad to have to relay the following news to our patient community. Yesterday, 6 July there was a public announcement made by Chris Freitag Chief Medical Officer (CMO) at Dynacure about the discontinuation of the DYN101 (Unite-CNM) 'antisense therapy'...
How to participate in the registry: The MTM & CNM Registry is a global research database. Since 2013, the registry has been collecting demographic, genetic and clinical data on people (living and deceased) affected by myotubular and centronuclear myopathy. It also...
Today, 28th February, is Rare Disease Day. On a fitting day for our rare disease community, we can announce that the UK Regulatory Agency (MHRA) has given approval for the tamoxifen clinical trial, known as 'TAM4MTM', to begin for child patients with x-linked...
European families affected by myotubular or centronuclear myopathy - please feel free to share this link and masterclass programme with your healthcare professionals. A new, free, 2-day Masterclass is intended for European Healthcare providers diagnosing or managing...
Leading Myotubular Myopathy scientists publish a new review summarising all that has been learnt about x-linked myotubular myopathy, from when Spiro first described the condition in 1966, to the identification of the mtm1 gene by Jocelyn Laporte in 1996, to the latest...
Dynacure have now updated the Frequently Asked Questions document (FAQ) posted on their website and have included translated versions as well. You can access the new document here from the company's own website: https://www.dynacure.com/patients-and-families/ Here are...
Call for participants in an RYR1 pregnancy and bleeding online study Researchers from King’s College London are looking for women over the age of 18 to participate in their new research study. The purpose of the project is to assess whether women with RYR1 mutations...
We were honoured to have had keynote speakers join us to present the scientific updates at our Myotubular and Centronuclear Myopathy Webinar event last Saturday. We were delighted too that so many families could join us for this UK event. Professor Muntoni provided...
An excellent new paper 'Making sense of missense variants in TTN-related congenital myopathies' (Reece, et al 2021) describes a leap forward in the understanding of how and when mutations in this gene can be linked to congenital myopathies. The TTN gene provides...
Last year a number of our patient community helped with an international survey regarding a wearable device and to help researchers identify what would represent a meaningful outcome for them in terms of muscle improvement, from a drug that works. Results of the...
According to a new scientific publication in Cell, a team of researchers have engineered a new gene-shuttling virus, known as MyoAAV, which has the potential to deliver gene therapy more safely in humans, by targeting muscle tissue at lower doses - between 100-250...
This morning 14 September 2021, we have received some devastating news from Astellas Pharmaceutical that a 4th patient has died in the ASPIRO trial for AT132 Gene Therapy for x-linked myotubular myopathy. On 1st September 2021 the company informed us that they had...
In case you missed it on 28th May 2021, the full recording is now available for “Turning the tide - Respiratory management of neuromuscular patients in the era of new treatments - First Anita Simonds symposium”. This symposium was held virtually and included a number...
The charity LifeArc has published expert advice to support work around repurposing medicines Drug repurposing has achieved a high profile during the coronavirus pandemic with medications such as the steroid dexamethasone and rheumatoid arthritis treatment tocilizumab...
The clinical stage drug and development company, Dynacure, is conducting a multi-centre clinical trial called Unite-CNM (DYN101-C101) for patients from the age of 16 years with centronuclear myopathy (CNM) due to mutations in DNM2 or MTM1. The trial is currently...
Scientists from around the world are invited to apply to us for a research grant in 2021. The goal of their work must be to help find a cure or treatment for any of the forms of myotubular and centronuclear myopathy. This has been the aim of the Myotubular Trust since...
Great Ormond Street Hospital Charity (GOSH) and Sparks have announced a national funding call in child health research. Under this funding call up to £2M is available to support project grants from researchers across the UK. The emphasis of this call is on complex...
17.5.21 Astellas Gene Therapies have this week provided an update on ASPIRO, their gene therapy clinical trial for x-linked myotubular myopathy. This trial was put on hold by the FDA last year, and the update provides information on the submission of a new study...
We would like to invite parents of children affected by myotubular and centronuclear myopathy to take part in a new UK NHS Respiratory 'virtual' event organised by Dr Federica Trucco, a consultant in paediatric sleep at Royal Brompton Hospital and Evelina London...
The wonderful Royal Brompton Hospital has come up trumps again, and made it possible for the Trust to host a mental health and wellbeing presentation for our UK patient, parent, family & carer community to mark Rare Disease Day 2021. So on Saturday 6th March...
Many of our patient community have requested information about the COVID-19 vaccines and concerns related to the potential to develop cross-reactive antibodies to the AAV used in gene therapy. In response to our questions, Audentes Therapeutics, the pharmaceutical...
On 24 December 2020, Audentes Therapeutics, an Astellas genetic medicines company, announced that the U.S. Food and Drug Administration (FDA) has lifted the clinical hold for the ASPIRO clinical trial evaluating AT132 in patients with X-linked myotubular myopathy...
We are delighted to share the news that our second grant award of 2020 goes to Dr Karim Hnia at the world renowned French research institute, INSERM, investigating a very promising question - Is the mTORC1 pathway a route to treatment in x-linked myotubular myopathy?...
This weekend Dynacure, the Strasbourg based company investigating an antisense therapy for the centronuclear myopathies caused by XLMTM and DNM2, launched a new website. They have included a very helpful set of questions and answers about their current clinical trial...
The 252nd ENMC workshop held on Mouthpiece Ventilation (MPV) in March 2020, helped to develop best practice guidelines and provide a number of useful supplementary tools for professionals to use in patient handover - the publication can be read here in full here....
Do you have 30 minutes spare to help with a new survey? Calling all patients, parents and carers of children and adults with myotubular and centronuclear myopathy. You are invited to help to complete a survey* about your opinions, expectations and concerns regarding...
A US-based sister charity, The RYR-1 Foundation, recently announced their publication of the Clinical Care Guidelines: What Patients & Families Need to Know About RYR-1-Related Diseases. This handbook is written in non-technical, easily understood language to...
It is with immense sadness that we share with you the Audentes Therapeutics press release received today announcing the death of a third patient in their ASPIRO gene therapy clinical trial. 20AUGUST2020 - Press Release (PDF) Audentes Therapeutics Provides Update on...
We are so sad to learn of the death of a second child patient on Audentes Therapeutics' AT132 gene therapy trial for x-linked myotubular myopathy. Please read the letter announcing this news below (and as a PDF attachment). We have been reassured by Audentes...
Results from a recent EURORDIS COVID-19 survey show that the pandemic heavily impacted our rare disease populations. More than two months later, confinement measures are slowly being lifted in many countries. As the virus still circulates and as measures are...
We are delighted to announce that this year again Great Ormond Street Hospital Charity and Sparks have invited Myotubular Trust to join their 2020/21 national funding call in child health research. Under this funding call up to £2M is available to support project...
We are very pleased to invite our community to a virtual coffee morning on July 4th 2020, between 10am - 12 noon, with some of the UK’s leading neuromuscular experts. You can join us from the comfort of home, using a computer, tablet or phone. Professor Francesco...
Our 2020 grant call is now open. Scientists from around the world are invited to apply to us for a research grant. The goal of their work must be to help find a cure or treatment for any of the forms of myotubular and centronuclear myopathy. This has been the aim of...
Aspiro Clinical Trial Update : May 6, 2020 : Audentes Therapeutics "Yesterday morning we learned that a patient in the ASPIRO clinical trial investigating AT132 for X-linked myotubular myopathy (XLMTM) tragically passed away. We extend our deepest sympathies to the...
Are you willing to help with a new European study looking into the possible muscle symptoms in female carriers of myotubular myopathy (MTM1)? The study is keen to recruit as many female relatives of boys and men with x-linked myotubular myopathy as possible, plus...
Today, 30 March 2020 several patient organisations chose to send a letter to Audentes and Astellas. #earlyaccess4all The MTM Community Letter reads: Dear Ms. Holles, We send you this letter with the utmost urgency. In light of the events that are occurring around the...
Myotubular Trust was invited to participate in an energetic ENMC workshop on Mouthpiece Ventilation between 6-8th March 2020 which was organised by recognised leading experts in the field of respiratory medicine. Together with 21 other professionals and patient...
On 5th March 2020, Dynacure announced that the first myotubular myopathy patient has been dosed with DYN101 in 'UNITE-CNM' - their clinical trial for centronuclear myopathies. DYN101 is an antisense oligonucleotide (ASO), which is expected to decrease the production...
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...
"Breathing Muscle Strength in Healthy Children" Study at Brunel University London Brunel University London is involved in an exciting research project investigating gene therapy for young children affected by X-linked Myotubular Myopathy (XLMTM). The gene therapy...
On 2nd December Audentes announced that they have made a deal with Astellas, a large Japanese based pharmaceutical with large international presence, to acquire the gene therapy and manufacturing programme. Audentes anticipate that they will become a subsidiary...
Today as a member of Genetic Alliance UK, Myotubular Trust is delighted to announce that we are taking part in a campaign Action for Access. This campaign was launched yesterday at the Houses of Parliament at the All Party Parliamentary Group for Rare, Genetic and...
On 3 September, Dynacure released a letter to our patient community to include questions such as:- What are the goals of the Phase 1/2 clinical trial? When will the study start and where will it be run? Why is Dynacure starting their trials in adults? They also give a...
Audentes Therapeutics have published a letter, dated August 2019, for our Patient Community which can be accessed below. The letter provides details about their next steps for the AT132 Gene Therapy Clinical Trial Programme known as 'ASPIRO'. Letters in other...
Company expects to initiate Phase 1 / 2 study ‘Unite-CNM’ in 2H2019 Today, August 8, 2019, Dynacure, a clinical stage drug development company focused on improving the lives of patients with rare and orphan disorders, today announced that the U.S. Food and Drug...
#TogetherEvenStronger2020 (PDF) Download Save The Date for the European MTM-CNM Family Conference 21-24 May 2020
Today, 11th July, Dynacure announced that they have been granted Orphan Drug Designation from the European Medicines Agency (EMA) for DYN101, Dynacure’s antisense treatment for centronuclear myopathy. DYN101 is anticipated to begin clinical trials in Europe in the...
Great Ormond Street Hospital Charity and Sparks have announced a national funding call in child health research in 2019/20. Under this funding call up to £2M is available to support project grants from researchers across the UK. The emphasis of this call is on complex...
In this study, the researchers found that increasing the level of BIN1 (Amphiphysin 2) rescues myotubular myopathy resulting from a MTM1 defect, in an animal model. "Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice"...
Today, 1st May, at a meeting of the American Society of Gene and Cell Therapy, Audentes announced new positive data from ASPIRO their Phase1/2 clinical trial for the gene therapy product AT132. The information being presented was 48 weeks follow up for 6 treated...
Today, 30th April, Dynacure announced that the Medicines and Healthcare products Regulatory Agency (MHRA) has approved the European Clinical Trial Application (CTA) for DYN101 - Dynacure's antisense product in development for centronuclear myopathy. This antisense...
Our UK based families are invited to complete a short, anonymised online survey to help improve standards of care for long-term ventilated children and young adult patients under the age of 25 years. The online survey, which can even be completed from your smartphone,...
Do you have approximately 90 minutes to spare to help with an important study that will aim to improve care for long-term ventilated children and young people in the UK? If yes, perhaps you can help the The National Children's Bureau by joining them in an online...
Patients suffering from x-linked myotubular myopathy (XLMTM) do not have enough of the myotubularin protein, so the body may require a ventilator to support breathing and a feeding tube. Gene Therapy, the first treatment candidate for XLMTM, is explained here on the...
Today, 31st January, Audentes provided an update on meetings with the FDA (US regulator), planned conversations with the EMA (European regulator) and next steps in the clinical trial - ASPIRO. Having received what is essentially a special status of ‘rare drug for rare...
The 2019 Myotubular Trust grant call is now open. Scientists from around the world are invited to apply to us for a research grant. The goal of their work must be to help find a cure or treatment for any of the forms of myotubular and centronuclear myopathy. This has...
A second article, also published on 19th November in Nature Communications, further demonstrates the potential beneficial effect of Tamoxifen for x-linked myotubular myopathy. You can read the full published article in Nature Communications here: Tamoxifen prolongs...
The eminent journal Nature Communications has just published an article on the work of Dr James Dowling and his team at Toronto Hospital for Sick Kids, Canada, investigating the beneficial effects of the drug Tamoxifen in improving the symptoms of x-linked myotubular...
On announcing 3rd quarter financial results for Audentes Therapeutics today, on 6th November, Matthew R. Patterson, Chairman and Chief Executive Officer stated "In the third quarter, we continued to see exciting progress in the clinical development of AT132" and the...
A new publication in the journal PNAS further confirms the role of DNM2 reduction in potential treatment for centronuclear myopathies. Previously the team at IGBMC in Strasbourg had established that reducing levels of the protein Dynamin 2 reduces symptoms in the...
In 2015 the Myotubular Trust awarded a 3 year grant to Dr Jocelyn Laporte and his team at the world renowned laboratory, IGBMC, in Strasbourg, France. Dr Laporte’s laboratory is where the MTM1 and BIN1 genes were identified as the cause of myotubular and centronuclear...
Today, 5th October, Audentes announced that continued positive results have been achieved in ASPIRO - the Phase 1/2 clinical trial of AT132 for the treatment of X-linked Myotubular Myopathy (XLMTM). You can read the full press release here. Furthermore, the attached...
A new publication in Neuromuscular Disorders co-authored with Dr Laurent Servais, Dr Jim Dowling and Dr Valérie Biancalana has been published recently, An integrated modelling methodology for estimating the prevalence of centronuclear myopathy. This innovative...
Audentes Therapeutics announced continuing positive interim data from the group of patients receiving the first dose of the gene therapy clinical trial ASPIRO, including muscle biopsy results from the first three patients treated in the study and the week 24 efficacy...
Leading researchers and clinicians from Europe, US and Canada presented their latest work in London on the weekend of the 14th & 15th July. The biotechnology companies, Audentes Therapeutics and Dynacure, both working to bring treatments for myotubular and...
Today, 5th June, Audentes Therapeutics announced that PRIME status has been granted by the European Medicines Agency for their AT132 product (the gene therapy being developed to treat x-linked myotubular myopathy). The PRIME scheme was developed by the EMA to enhance...
Great Ormond Street Hospital Charity and Sparks have today opened a National Funding Call for £2M of investment in Child Health Research. We are delighted to announce that this year, they have partnered with 5 rare disease charities, including the Myotubular Trust....
Audentes Therapeutics announced continuing positive interim data from the group of patients receiving the first dose of the gene therapy clinical trial ASPIRO. Three more patients have been added to this first dose cohort and Audentes Therapeutics reported: -...
Audentes Therapeutics today announced their first quarter 2018 results. For x-linked myotubular myopathy, they reported that the next 3 patients were enrolled at the first dose level of ASPIRO, the Phase 1/2 clinical study of AT132, their gene therapy product. They...
The European Family Conference on centronuclear and myotubular myopathies is taking place in London on Saturday 14th & Sunday 15th July 2018 - and registration is now open. The conference, jointly hosted with ZNM Zusammen-Stark!, will be chaired by Professor...
This very welcome and long awaited resource is an international review of the best evidence available on airway clearance techniques in neuromuscular disorders. Written by a group of 21 international experts in this field, it is all encompassing in its review, from...