Research News

25.02.14 Myotubular myopathy 'rescued' in new and innovative pre-clinical studies

Using an innovative strategy, researchers at the IGBMC (France) have cured animals affected by myotubular myopathy. By reducing the levels of dynamin 2 in affected mice, Dr Jocelyn Laporte’s team, in collaboration with the Institute of Myology, observed the disappearance of clinical signs of the condition, especially rescue of muscle strength and respiratory function, as well as a full rescue of lifespan.

In addition to the therapeutic potential, these results shed a new light on the mechanisms involved in all forms of centronuclear myopathy. It is one of the first examples of "cross- therapy", where the decrease of a gene altered in one myopathy (DNM2) rescues another myopathy resulting from the loss of a different gene (MTM1).

The identification of dynamin 2 as a novel therapeutic target for myotubular/centronuclear myopathies paves the way for further preclinical studies including how this strategy can be applied to other forms of centronuclear myopathies and future clinical trials in patients.

"It is very important to have several approaches to cure myotubular myopathy as a mix of strategies will lead to a more effective therapy, and as some patients might not be eligible for a specific approach." Dr Jocelyn Laporte

Read the full news article here

05.02.14 Audentes~Genethon Announce Their Agreement To Develop Treatment For Patients Affected By X-Linked Myotubular Myopathy

Audentes Therapeutics, Inc., a biotechnology company dedicated to the development of innovative treatments for rare muscle diseases, and Genethon, a non-profit organization dedicated to the research and development of biotherapies for orphan genetic diseases, announce that they have entered into an agreement to develop AT001 for the treatment of X-Linked Myotubular Myopathy (XLMTM), a rare, inherited disorder characterized by severe muscle weakness and respiratory impairment. AT001 is a novel drug candidate based on adeno-associated virus (AAV) gene therapy technology.

“Our agreement with Genethon is a significant step forward towards the development of a treatment for patients with this serious, rare disease,” said Matthew R. Patterson, President and CEO of Audentes. “The combination of Genethon’s expertise in the manufacturing and development of gene therapy products and Audentes’ world-class orphan drug development team will allow us to rapidly advance this program.”

The development of a potential treatment for XLMTM using gene therapy technology was initiated at Genethon in 2009.

“We are proud of our initial research on this important potential treatment for XLMTM and are very encouraged by the recently published data,” explained Frédéric Revah, Chief Executive Officer of Genethon. “We are confident that this collaboration with the experienced team at Audentes will help us achieve our goal of bringing a treatment to patients as soon as possible.”  

Read the full news article here


22.01.14 Results of Gene Therapy Research Announced Today

Efficacy of gene therapy demonstrated in canine and murine myotubular myopathy models

A team of French researchers, led by Dr. Anna Buj-Bello (Genethon/Inserm) and teams at the University of Washington and Harvard Medical School in the United States, have demonstrated the efficacy of gene therapy in models of myotubular myopathy, an extremely severe neuromuscular disease in children. Transfer of the MTM1 gene, which is deficient in the disease, corrected the affected muscles in mice and dogs and prolonged the survival of treated animals. This work, published today in Science Translational Medicine, has been achieved thanks to donations from the French Telethon and the support of the Myotubular Trust.

Dr. Anna Buj Bello, principal investigator at Genethon said: "These results are the culmination of four years of research and show how gene therapy is effective for this genetic muscle disease. We finally can envision a clinical trial in patients. These are very promising results."

Dr. Martin Childers from University of Washington said: "The implications of the pre-clinical findings are extraordinary for inherited muscular diseases. Two of our dogs treated with AAV-mediated gene therapy appear almost normal with little, if any, evidence, even microscopically, of disease caused by XLMTM."

Read the publication:

Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy, M. K. Childers et al. (2014)

Read the full press article here (pdf)

Read the shorter press article here (online)


15.01.14 The 198th ENMC International Workshop Report Is Now Published

At the beginning of June, the ENMC (European NeuroMuscular Centre - an international organisation facilitating communication amongst scientists and clinicians working in the area of neuromuscular disease) sponsored a conference on myotubular and centronuclear myopathy, the first for our condition since 2009.

The 198th ENMC meeting report has now been published in Neuromuscular Disorders.

The meeting involved 21 participants (including basic scientists, clinicians, patients and industry representatives) from different countries. The meeting promoted collaboration, and the sharing of ideas and information between them all regarding myotubular and centronuclear myopathy.

The importance of joint international efforts for the study of rare conditions such as MTM/CNM was emphasized, and plans for further collaborations and meetings were drafted.

Read the full news article here



24.10.13 Another Gene Discovered, Linked To Centronuclear Myopathy

Dr Jocelyn Laporte of Department of Translational Medecine and Neurogenetics, I.G.B.M.C. Strasbourg reports:

"Our team in Strasbourg is supported by Myotubular Trust since 2011 to identify genes linked to myotubular and centronuclear myopathies using the novel genome sequencing approach.

Thanks to this support, we could participate to an international collaborative study that culminated in the identification of mutations in Titin in patients presenting with centronuclear myopathy. Titin is the largest protein of the human body, and acts as a molecular spring during muscle contraction and relaxation.

Other families with centronuclear myopathy that have previously eluded genetic diagnosis may turn out to be linked to this same gene. Researchers can now use this finding to better establish diagnosis and understand how these myopathies occur. Moreover, Titin represents a novel target for therapeutic development for centronuclear myopathies.

Other forms of CNM still remain without a genetic diagnosis and research is ongoing in our team to identify the genetic causes."

Read the article at http://www.ncbi.nlm.nih.gov/pubmed/23975875.



20.10.13 Myotubular Trust Announces A Sixth Call To Grant Application

We are delighted to announce a Sixth Call to Application. We are looking to fund further projects that will help find a cure and/or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. Our Sixth Call will be open to research bodies internationally.

To date, we have awarded six research grants / fellowships for the following projects:

• Gene therapy for x-linked myotubular myopathy and pathophysiology – Dr Anna Buj Bello, Genethon, Evry - £102,290 over 2 years
• Membrane trafficking and T tubule structure and function in a canine model of centronuclear myopathies – Dr Richard Piercy, Royal Veterinary College, London - £38,548 over 3 years
• Deciphering the molecular pathway involving centronuclear myopathy genes – Manuela D’Alessandro, IGBMC, Illkirch - £120,000 over 3 years
• Gene therapy for autosomal dominant centronuclear myopathy by Transplicing – Dr Marc Bitoun, INSERM, Paris - £102,340 over 2 years
• Next generation sequencing to tackle centronuclear myopathies – Dr Jocelyn Laporte, IGBMC, France - £62,000 over 2 years
• Secondary pathogenic mechanisms in XLMTM and CNM – Dr Susan Treves, Basel University Hospital, Basel and Dr Heinz Jungbluth, King’s College London - £116,664 over 3 years
• Pre-clinical gene replacement therapy for X-Linked myotubular myopathy – Dr Anna Buj Bello, Genethon, Evry - £110,300 over 2 years

In particular we would like to encourage the application of new technologies to research into myotubular myopathy, which may involve collaboration between different medical disciplines and / or different research institutions. We are also willing to consider applications which involve joint funding with other organisations.

Please see our Research Programme & Grants Information Page to read more and download an application form.



21.6.13 Great Danes Discovery Helps To Unravel Centronuclear Myopathy

Dr Jocelyn Laporte and his team in Strasbourg, France have recently discovered five Great Danes who are mimicking symptoms of a highly progressive autosomal recessive form of centronuclear myopathy (CNM), as observed in some patients with the human form of the condition.

This brings the total number to three naturally occurring canine models expressing three different mutations of the conditions known in the human form as myotubular and centronuclear myopathy.

Dr Laporte and his colleagues said "comparative studies of the three models will be an invaluable source of information regarding common features in distinct forms of centronuclear myopathy and will help to foster potential rescuing approaches."

Read the full news article here.

Please read the lay summary on the novel canine model for centronuclear myopathy as just described in the journal PLoS Genetics Bohm et al. "Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy".



05.06.13 Pre-Clinical Gene Replacement Therapy For X-Linked Myotubular Myopathy

The Myotubular Trust is delighted to announce our 2013 research grant to Dr Anna Buj Bello, at the world-renowned not-for-profit orphan disease laboratory, Genethon, in Paris, France.

Our grant will allow Dr Buj Bello to carry out the vital next steps on the road to clinical trials.

Up to now Dr Buj Bello’s work, and her work in conjunction with the University of Washington on XLMTM dogs, has proven the concept of using a virus as a vector to carry the gene into muscle cells. This has brought about a marked improvement in muscle function.

With Myotubular Trust funding, Dr Buj Bello and her team at Genethon will carry out three crucial objectives in order to bring this gene therapy through the pre-clinical phase:

1) Novel Vectors with increased skeletal muscle specificity: Ensuring that the ‘vector’ carrying the gene therapy is the most appropriate way to ‘get into’ muscle cells is a very important next step in preparing for clinical trials. It is vital before we are ever at a point to introduce this into humans, to improve this viral vector so that it expresses myotubularin in muscles rather than in other tissues in the body. It is not known what complications or toxicity could be brought about by too much myotubularin in other bodily tissues, and Dr Buj Bello and her team are uniquely placed to develop an improved and more targeted viral vector for muscle cells specifically.

2) Defining dosage and route of drug administration: Establishing the ideal dosages and best routes of drug administration is also vital at the pre-clinical trial phase of research. This work will be carried out in conjunction with Professor Martin Childers at the University of Washington where they are carrying out experiments on Labrador Retrievers who have a naturally occurring canine version of XLMTM. Dr Buj Bello’s team at Genethon will be responsible for providing the vectors for all of these experiments, and for the in-depth analysis of all animal tissues and bloods in both the dogs in Washington and the mice at Genethon. This analysis is vital to identify how the vector is distributed and expressed through the body, and will help to define dosages. Dr Buj Bello’s team will be responsible for evaluating the immune response of this gene therapy before it is considered safe to bring to human trials.

3) Human vector for clinical trials: The ultimate result of Dr Buj Bello’s grant will be the design, production and assessment of the human vector that will be used in clinical trials in patients with XLMTM. Genethon have unique experience in this field, as they have already developed a human AAV vector for Duchenne Muscular Dystrophy.

Dr Buj Bello’s grant is for £110,000 over two years. To read more information about Dr Buj-Bello, the not-for-profit disease laboratory Genethon and how the Myotubular Trust makes its grants, please read the full news article.


29.05.13 New Myopathy Gene Identified By Myotubular Trust Grant At The Laboratory of Dr Jocelyn Laporte In Strasbourg

Since 2011, Myotubular Trust has supported Dr Jocelyn Laporte's “High throughput gene sequencing to identify new genes that cause myotubular and centronuclear myopathies”. While this project is still ongoing in their Strasbourg laboratory, they have validated their strategy in two recent studies. In the attached news update Dr Laporte and his team report on the success of establishing this proof of concept. Their findings are summarised here below:

Identification of the causative gene in the “Samaritan myopathy”, sharing common features with centronuclear myopathies (full published article)

Samaritan myopathy which is very like severe myotubular myopathy but has an "inverse path", with babies born severely affected, but progressively improving until they are minimally affected as adults. Finding this gene is a really important step in understanding why these children improve so fundamentally, and whether this kind of improvement might be repeated in myotubular myopathy.  

Next generation sequencing for molecular diagnosis of neuromuscular diseases (full published article)

The grant to Jocelyn Laporte (who discovered the mtm1 gene in 1996) is to continue to invest in new next generation sequencing technology to establish that it can be used as a faster, more cost effective, more comprehensive method of genetic diagnosis in myotubular and centronuclear myopathy.

An example from this next generation sequencing of a mutation being identified that causes myotubular myopathy. This particular mutation is at the site of the MTM1 gene in the DNA molecule (that has in total 3 billion letters) and the mutation corresponds to the lack of the 4 letters "AAAG". Using next generation sequencing to find these mutations proves that this technology works for our group of conditions.


04.10.12 New, Groundbreaking Research Grant Funded by Myotubular Trust Offers A Huge Leap Forward In Understanding MTM And CNM Helping Find Potential New Therapeutic Treatments

The Myotubular Trust is delighted to announce a fourth successive year of making substantial research grants to help find a treatment or cure for myotubular and centronuclear myopathy. Following a rigorous application and peer review process, our Scientific Advisory Board recommended that this year's grant goes to a joint team of Dr Heinz Jungbluth at King's College, London, UK and Dr Susan Treves who heads the Muscle Research group at Basel University Hospital, Switzerland.

Although a lot of work has been done in identifying the genes that cause myotubular and centronuclear myopathy, the precise way in which those genetic faults cause muscle weakness, and other complications, is just not understood. To understand this 'why' will be a huge step in developing a cure or treatment.

Recent research findings have suggested two very promising lines of further investigation that may tell us something fundamental about these conditions, and Drs Jungbluth and Treves will investigate them both. The first is the link between myotubular and centronuclear myopathy and the processes that cause muscles to contract, in particular the process of releasing calcium into muscle cells. The second is a link between the "recycling" mechanism in cells and certain genes that cause myotubular and centronuclear myopathy. You can read more about the research here.

We are delighted to be funding these very exciting lines of investigation, being carried out by this very impressive team of researchers.



20.09.12 Myotubular Trust Announces A Fifth Call To Grant Application

We are delighted to announce a Fifth Call to Application. We are looking to fund further projects that will help find a cure and/or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. Our Fifth Call will be open to research bodies internationally.

To date, we have awarded six research grants / fellowships for the following projects:

  • Gene therapy for x-linked myotubular myopathy and pathophysiology – Dr Anna Buj Bello, Genethon, Evry
  • Membrane trafficking and T tubule structure and function in a canine model of centronuclear myopathies – Dr Richard Piercy, Royal Veterinary College, London
  • Deciphering the molecular pathway involving centronuclear myopathy genes – Manuela D’Alessandro, IGBMC, Illkirch
  • Gene therapy for autosomal dominant centronuclear myopathy by Transplicing – Dr Marc Bitoun, INSERM, Paris
  • Next generation sequencing to tackle centronuclear myopathies – Dr Jocelyn Laporte, IGBMC, France
  • Secondary pathogenic mechanisms in XLMTM and CNM – Dr Susan Treves, Basel University Hospital, Basel and Dr Heinz Jungbluth, King’s College London

In particular we would like to encourage the application of new technologies to research into myotubular myopathy, which may involve collaboration between different medical disciplines and / or different research institutions. We are also willing to consider applications which involve joint funding with other organisations.

Please see our Research Programme & Grants Information Page to read more and download an application form.



12.07.12 New Research Leads To Better Detection And Diagnosis Of MTM1 In Rare Cases Where No Genetic Mutation Has Been Found

Dr Heinz Jungbluth reports:

'Mutations in the MTM1 gene are the only known genetic cause of the X-linked form of centronuclear (myotubular) myopathy but in a proportion of typically affected boys the underlying genetic defect remains elusive despite extensive investigations. Whilst some of these boys will have mutations in recently identified CNM genes - DNM2, RYR1 and BIN1 - associated with other modes of inheritance, research groups in France and the United Kingdom have now independently identified rare faults concerning the MTM1 gene which may not be detectable on routine genetic testing but will be picked up with more sophisticated techniques available in specialist laboratories. Identification of these rare faults in the MTM1 gene will help and enable counselling for families who so far have not had a precise genetic diagnosis'.

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10
Trump N, Cullup T, Verheij JB, Manzur A, Muntoni F, Abbs S, Jungbluth H.
Neuromuscul Disord. 2012 May;22(5):384-8. Epub 2011 Dec 9.

Another related article from the laboratory of Dr Jocelyn Laporte in France may also be of interest

Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations.
Tosch V, Vasli N, Kretz C, Nicot AS, Gasnier C, Dondaine N, Oriot D, Barth M, Puissant H, Romero NB, Bönnemann CG, Heller B, Duval G, Biancalana V, Laporte J.
Neuromuscul Disord. 2010 Jun;20(6):375-81.

In summary, while Dr Heinz Jungbluth's and Dr Stephen Abb's DNA Laboratory at Guy's and St Thomas' Hospital does routinely test for such changes in MTM1 sequencing negative patients with characteristic features, this is something parents of a child with MTM/CNM but no confirmed mutation ought to consider checking and discussing further with their geneticist or neuromuscular specialist. It is also important to emphasize that these unusual defects in the MTM1 gene are likely to be very rare indeed, and that it is probably as likely that a child with MTM1/CNM without confirmed genetic defect has a mutation in another, probably currently unknown gene.



11.06.12 New Hope For Treating Patients With X-Linked Myotubular Myopathy: Proof of Concept Support For Future Clinical Trials in XLMTM Patients

Myotubular Trust are delighted to share with you the exciting pre-publication news reported by researcher, Dr Anna Buj-Bello, following the research work which was funded by us.

Dr Anna-Buj Bello reports:

     "From 2009 to 2011, Myotubular Trust has supported our team at Genethon to develop therapeutic strategies for myotubular myopathy based on gene therapy. The main aim of this project was to introduce the normal MTM1 gene into muscle cells from the mouse models of the disease. In order to achieve that, we constructed a genetically modified viral vector that carries the MTM1 gene. Administration of this vector to mutant mice leads to the presence of the MTM1 protein in muscles of the body and correction of the severe muscle pathology in these animals. These results are very encouraging and provide proof-of-concept support for future clinical trials in x-linked myotubular myopathy (XLMTM) patients."

    "In addition, since it is known that patients with XLMTM have muscle cells which are smaller than normal, our team has been working on other studies that involve the use of growth factors. Growth factors are molecules that make our cells increase both in number and in size. To test the therapeutic efficacy of a growth factor called insulin-like growth factor-1, or IGF-1 for short, and an inhibitor of myostatin in mice with myotubular myopathy, we have produced the vectors for gene transfer and experiments are currently ongoing in the laboratory." Dr Anna Buj-Bello.

You can read more about the Myotubular Trust funded research that led to this proof of concept support for future clinical trials in XLMTM patients here.

Myotubular Trust visits Dr Anna Buj-Bello and her team at Généthon, November 2011



11.06.12 Myotubular Myopathy And The Neuromuscular Junction: A Novel Approach

"Thanks to Myotubular Trust support we have been able to participate in international collaborative projects, such as a study that shows alterations in the junctions between muscle fibers and nerve terminals in mice and evaluates the use of an acethylcholinesterase inhibitor as a therapeutic agent." Dr Anna Buj-Bello, Généthon, INSERM, Evry, France

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.   Dowling JJ, Joubert R, Low SE, Durban AN, Messaddeq N, Li X, Dulin-Smith AN, Snyder AD, Marshall ML, Marshall JT, Beggs AH, Buj-Bello A, Pierson CR.   Dis Model Mech . 2012 May 24. [Epub ahead of print] (pdf) Full Article



15.09.11 Myotubular Trust Announces A Fourth Call To Grant Application

We are delighted to announce a fourth Call to Application. We are looking to fund further projects that will help find a cure and/or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. Our fourth Call will be open to research bodies internationally.

To date, we have awarded research grants / fellowships for the following projects:

  • Gene therapy for x-linked myotubular myopathy and pathophysiology – Dr Anna Buj Bello, Genethon, Evry (read more here)
  • Membrane trafficking and T tubule structure and function in a canine model of centronuclear myopathies – Dr Richard Piercy, Royal Veterinary College, London (read more here)
  • Deciphering the molecular pathway involving centronuclear myopathy genes – Manuela D’Alessandro, IGBMC, Illkirch (read more here)
  • Gene therapy for autosomal dominant centronuclear myopathy by Transplicing – Dr Marc Bitoun, INSERM, Paris (read more here)
  • Next generation sequencing to tackle centronuclear myopathies – Dr Jocelyn Laporte, IGBMC, France (read more here)

In particular we would like to encourage the application of new technologies to research into myotubular myopathy, which may involve collaboration between different medical disciplines and / or different research institutions. We are also willing to consider applications which involve joint funding with other organisations.

Please see our Research Programme & Grants Information Page to read more and download an application form.



19.08.11 Two Further Research Grants Funded by Myotubular Trust in 2011

The Myotubular Trust is delighted to announce two new research grants which will make a fundamental contribution to our understanding of the condition and help us in our quest to find a cure.

The first will be run by Dr Jocelyn Laporte at the world renowned IGBMC laboratory in France (where the mtm1 gene was discovered in 1996.) They will use next generation gene sequencing technology to carry out 'high throughput' gene analysis, which it is hoped will lead to the discovery of the missing genes which cause centronuclear and myotubular myopathy. Finding these 'other' genes is important for two critical reasons - it will provide much better information for families about the gene that affects them, and should shed light on new drugs as possible therapeutic options. Read the Lay Summary of the research by Dr Jocelyn Laporte here.

The second project will be be led by Dr Marc Bitoun at INSERM in Paris where they will evaluate a new gene therapy technique as a possible cure for centronuclear myopathy. They will use trans-splicing to 'cut and paste' a working gene onto the faulty gene for dynamin 2 (one of the three genes currently implicated as a cause of cnm), and will carry the working gene using a virus as a vectors . This new gene therapy technology is a very exciting possible route to a cure as the 'reprogrammed' gene is under the direct control of the patient's cells, and therefore less likely to be rejected by the body. Read the Lay Summary of the research by Dr Marc Bitoun here.



29.07.11 Calling All Patients Who Don't Have A Genetic Diagnosis For MTM/CNM.

Title of study : Next generation sequencing to identify novel genes implicated in centronuclear myopathies and other congenital myopathies

Purpose of Study: For any disease or condition and including the Myotubular and Centronuclear Myopathies, the identification of the mutation is the most important first step for genetic counseling and therapies. Over recent years, there has been a discovery of several genes causing Myotubular and Centronuclear Myopathy, including MTM1, DNM2, BIN, however, the causative mutations in half of patients are still unknown.

This project, funded by Myotubular Trust, uses a new "high-throughput" gene sequencing approach and aims to help patients who have not been able to find out which genes have caused their form of centronuclear myopathy to identify the exact mutation.

The project, which will be run by Dr Jocelyn Laporte, Dr Johann Böhm and colleagues in the department of Translational Medicine at IGBMC in France, will use next generation sequencing to identify novel genes implicated in centronuclear myopathies.

Knowing the exact mutation has many benefits, including the first step to providing accurate genetic counseling, to improve health care and disease management and to identify novel drug targets that may be more accessible for therapeutic development. This knowledge is often required for the inclusion into specific clinical trials.

Because the patient testing will form part of this important research project, it is being offered free of charge for any patient who wishes to find out their mutation, but on the basis that the researchers cannot guarantee a positive result or time frame.

So to summarize:

  • The analysis is free of charge for the patients as it is on a research basis
  • They do not guarantee a positive result or a time frame
  • As they analyze all genes, they may find gene variations associated with additional medical conditions (that have nothing to do with the muscle disease). The patients will be informed about these gene variations only in case of a direct benefit for the patient and based on current medical knowledge.

Eligibility (Inclusion/Exclusion criteria) People who have a diagnosis of centronuclear myopathy and have no confirmed genetic diagnosis are candidates to participate in this study. The analysis is proposed to patients for whom mutations in known genes has been excluded.

Travel Arrangements: No direct travel is necessary. Sending in a DNA sample is required. Contact the investigator for a collection kit and details.

Contact Information:

Dr. Johann Böhm
IGBMC
1, Rue Laurent Fries
67404 Illkirch
France

johann@igbmc.fr

Phone : 33 (0)388653415 (office)

Download a Consent Form (in pdf) or Consent Form (in word doc)



10.07.11 Myotubular Trust European Family Conference, London

"How come I don't feel so alone any more? Simple - I met so many wonderful professionals, families and friends yesterday at the Myotubular Trust European Conference in London." Read more about our 2011 Family Conference.



7.10.10 Myotubular Trust Announces A Third Call To Grant Application


We are delighted to announce a third Call to Application. We are looking to fund further projects that will help find a cure and/or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. Our third Call will be open to research bodies internationally, for the first time.

To date, we have awarded research grants / fellowships for the following European projects:

  • Gene therapy for x-linked myotubular myopathy and pathophysiology – Dr Anna Buj Bello, Genethon, Evry.
  • Membrane trafficking and T tubule structure and function in a canine model of centronuclear myopathies – Dr Richard Piercy, Royal Veterinary College, London
  • Deciphering the molecular pathway involving centronuclear myopathy genes – Manuela D’Alessandro, IGBMC, Illkirch

In particular we would like to encourage the application of new technologies to research into myotubular myopathy, which may involve collaboration between different medical disciplines and / or different research institutions. We are also willing to consider applications which involve joint funding with other organisations.

Please see our Research Programme & Grants Information Page to read more and download an application form.


04.10.10 Faster Diagnostic Testing for UK Patients


The four genes so far identified as causing myotubular (MTM) and centronuclear myopathy (CNM), namely MTM1, DNM2, BIN1 and RYR1, can all now be tested for in the UK by Dr Stephen Abbs and his team in the DNA Laboratory of GSTS Pathology, Guy's & St Thomas' Hospital, London. For more information, and details about how you can be referred to this faster service, either as a UK NHS patient, or as an overseas private patient, please read more here.


08.09.10 A Third New Research Grant Is Awarded By Myotubular Trust


We are delighted to be able to announce the second year of Myotubular Trust research grants. Myotubular Trust put out a call for grants last September and after a rigorous application and peer review process our Scientific Advisory Board has recommended that we support an application from Dr Manuela D'Alessandro at The Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) in Strasborg, France. We have awarded Dr Manuela D’Alessandro a 3 year post doctoral fellowship of £120,000 for her exciting and innovative research project which is due to start in the autumn of 2010, and will help to find a cure or treatment for myotubular and centronuclear myopathy.

The characteristic feature of centronuclear and myotubular myopathy is the abnormal presence of the nucleus in the centre of the muscle cell instead of at the edge. What causes this centralisation of the nucleus or its relationship with the absence of myotubularin is not understood and it is this question which Dr D'Alessandro's research will address. She will be investigating how the different genes already implicated in centronuclear and myotubular myopathy interact with each other to instruct the muscle cell on where to position the nucleus. She will also investigate other genes known to be involved in the process of nuclear positioning and see how they act together too. If this 'molecular pathway' of genetic instructions, and exactly how this pathway causes centralisation of the muscle cell nucleus, could be better understood, it is likely to shed valuable light on the condition and possible future treatments. Dr D'Alessandro also hopes to identify new genes involved in positioning the nucleus and such genes may be appropriate as novel therapeutic targets to treat the symptoms of centronuclear and myotubular myopathy.

View the full lay report on this latest research grant.

Three Complementary Myotubular Trust Research Projects

By making this new grant to Dr D’Alessandro, the Myotubular Trust is now funding three complimentary areas of research and collectively, these grants use three of the available animal models to help in the research and investigation of the disease for better understanding. They address a number of the scientific questions most likely to lead to a therapeutic strategy to treat centronuclear and myotubular myopathy

The three areas of research we are funding now cover:

- Gene replacement therapy studies in the XMTM mouse with Dr Anna Buj Bello (INSERM, France);

- Detailed structural studies of muscle from Labrador dogs and human patients affected by these conditions, to learn more about the physical changes that occur in the muscles with Dr Richard PIercy (Royal Veterinary College, London);

- And this year’s grant to Dr D'Alessandro to understand more precisely the molecular pathway(s) in which 3 of the genes associated with MTM/CNM function.


08.09.10 Interesting Findings In Dr Piercy's Research Project

Dr Richard Piercy, whose work on the structural studies of myotubular and centronuclear myopathy muscles was funded by the Myotubular Trust last year, has recently presented some of his findings to the International Congress on Neuromuscular Diseases in Naples. You can read a short lay description from Dr Piercy of the progress his research is making here.


08.09.10 Model for X-Linked Myotubular Myopathy Found

Dr Anna Buj Bello, whose work we are supporting at INSERM in France, has, in collaboration with other leading international researchers, been involved in a major development in identifying a model for x-linked myotubular myopathy and has very positive implications for future research. You can read the full published article here.


18.09.09 A Second Call To Project


The Myotubular Trust put out a 2nd Call to Project on 18th September 2009. We will require completed applications by close of business Friday 18th December 2009.

We anticipate making awards in April 2010. We are looking to fund further projects that will help find a cure and / or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. This call will be open to European research bodies only. More....


10.09.09 Two New Research Projects Funded

The Myotubular Trust has now funded two research projects to address this important question from two different angles.

The first project, which will be run by Dr Richard Piercy, a Vet at The Royal Veterinary College, will try and understand what aspect of muscle function has stopped working properly in these muscle diseases. The second project, which will be run by Dr Anna Buj-Bello at INSERM, a French laboratory, will try a variety of therapeutic ‘rescue’ approaches such as gene therapy and drug administration.The research output from both of these projects is likely to suggest therapeutic strategies to treat MTM patients of all ages. More...

10.09.09 A Better Understanding About Research

Parents can often be intimidated by the medical jargon associated with a child's health condition but Dr Juliet A Ellis has kindly offered to help extend the work of the Myotubular Trust by providing affected families, carers and individuals themselves with simpler explanations about the European research taking place, helping us to achieve a better understanding of the possibilities of research and the language sometimes used by our doctors. More....

10.09.09 Our Grant Funding Process Explained


The Research Grant process which has led to the announcement of the first Myotubular Trust research grants is a complex process. There are four key stages to the process of making a research grant. For anyone wishing to know more about our process we have provided a fuller explanation here. More....