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Current Research in Myotubular and Centronuclear Myopathy: Get Involved!

A key aspect of our mission is to directly connect families affected by MTM-CNM with leading researchers and medical professionals in the field.  We are so grateful for all of their work - and we need YOU to be involved!
Medical Chart Review of Patients with X-Linked Myotubular Myopathy
Audentes Therapeutics
Audentes Therapeutics has initiated its first study of X-Linked Myotubular Myopathy (XLMTM), entitled RECENSUS: A Medical Chart Review of Patients with XLMTM.  RECENSUS is a Latin word which means to review and investigate. The goal of this study is to collect information from medical charts in order to characterize aspects of the condition and associated medical care for males with XLMTM.
This is a retrospective, non-interventional study, meaning there is a review of past care. It does not require visits to a study site or any medical procedures. 
We hope that this study will contribute considerably to the understanding of XLMTM. If you are interested in having your or your child’s medical chart included in the study, please follow the link below for more information about the study and participating sites.
more info



Clinical Development of Gene Therapy for XLMTM
Preclinical trials in animal models of X-linked Myotubular Myopathy (XLMTM) have shown dramatic improvements in muscle strength and function following treatment with gene therapy (read more in this Quest article and this editorial from the Annals of Translational Medicine). As announced at our 2013 Family Conference, a biotech company called Audentes Therapeutics has been created to pursue development of gene therapy treatment for XLMTM. Two studies, called INCEPTUS and ASPIRO, are part of the Audentes clinical development program for a gene therapy drug called AT132.
INCEPTUS is ongoing, but no longer recruiting patients: more info at clinicaltrials.gov.
ASPIRO is the first clinical trial of AT132: more info at clinicaltrials.gov.
  • On September 21, 2017, Audentes announced the dosing of the first patient in ASPIRO. As this trial is currently ongoing, there will necessarily be limited communication until the results are made public. Audentes have shared the following letter with our community to further explain: click here.
  • On January 4, 2018, Audentes announced the interim data from the first dosed cohort from ASPIRO. The attached letter from Audentes is to be shared with our community: click here.
  • On May 16, 2018, Audentes announced the second update of interim data from ASPIRO, and again shared a letter addressed to the XLMTM community: click here.
  • On August 7, 2018, Audentes announced continued results from ASPIRO, and asked our community leaders to share this letter: click here.
  • On October 5, 2018, Audentes provided another interim update on ASPIRO, and shared this letter with our community: click here.
  • On January 31, 2019, Audentes issued a press release regarding their initial meeting with the FDA to review clinical and nonclinical data and information so far.  They also shared this letter with our community: click here.
  • On May 1, 2019, Audentes presented updated data from ASPIRO at the ASGCT annual meeting.
  • On December 2, 2019, Astellas announced an agreement to buy Audentes.  This letter was shared with the patient community: click here.
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Hal Landy, MD, Valerion Therapeutics
This is a prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe. The duration of the study, including the enrollment period, will be 36 months. Data from the study will be used to characterize the disease course of MTM and determine which outcome measures will be the best to assess the efficacy of potential therapies.
more info

Molecular and Genetic Studies of Congenital Myopathies
Alan Beggs, PhD, Boston Children's Hospital/Harvard Medical School
In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth). The primary goal of the research is to better understand the genes and proteins (gene products) involved in muscle functioning and disease. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with congenital myopathies in the future.
more info

MTM1 Carrier Survey
Casie Genetti, MS, CGC, Beggs Laboratory Boston Children's Hospital
The Beggs Lab invites any mother who has a child genetically diagnosed with congenital myopathy, including MTM1 or other genes, to complete a questionnaire about their medical history and current abilities.  Researchers are looking to survey:
  • MTM1 carriers who have a son with XLMTM
  • Women who are not MTM1 carriers, but have a son with XLMTM
  • Women who have a child with congenital myopathy due to a genetic change other than MTM1, such as DNM2, RYR1, BIN1, etc.
We hope to learn more about what symptoms, if any, mothers of children with congenital myopathies may have, to be better able to characterize the impact of MTM1 mutations on the body.
more info

Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
Barbara K Smith, PT, PhD, University of Florida
This study is a longitudinal study evaluating the severity and progression of respiratory muscle function in patients with X-Linked Myotubular Myopathy (XLMTM) aged 0-14.  Subjects aged 0-7 will be evaluated every six months for a total of three evaluations (Baseline, Six-Month Visit, Twelve-Month Visit). Subjects aged 8-14 will be evaluated every twelve months for a total of two evaluations (Baseline, Twelve-Month Visit). Evaluations include medical history, physical exam, respiratory muscle tests, a qualitative interview related to the child's function and use of respiratory aids, and quality of life assessments.
more info

Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Anne Rutkowski, MD, Cure CMD
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR). The CMDIR registers individuals with congenital muscular dystrophy, congenital myopathy and extends to the limb girdle and late onset spectrum for both disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure.
more info
CNM/MTM Natural History Study- (Not currently enrolling)
James Dowling MD, PhD, The Hospital for Sick Kids, Toronto
At the 2011 & 2013 MTM-CNM Family Conferences, many families enrolled in Dr. Dowling’s Natural History of Centronuclear/Myotubular and other RYR1-related Myopathies. The study aimed to learn more about these conditions and to possibly identify other medical problems which may be screened for in patients with these myopathies.  Dr. Dowling is one of the physicians currently partnering with Valerion Therapeutics in North America to help enroll families in the Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy listed above. The work from his previous CNM/MTM Natural History Study helped to lay the foundation for this new collaborative study effort.   If you’d like more information about your previous involvement in Dr. Dowling’s Natural History Study you may contact Dr. Dowling or Genetic Counselor/Clinical Director Kim Amburgey.


Prospective Event Rate Study In Males With X-Linked Myotubular Myopathy
Sabine de Chastonay, PhD, CMDIR
This study will look at health complications connected to your (or your child’s) muscle disease, in this study called an EVENT, such as emergency room visits/hospitalizations, a reaction to a medication or a complication from a medical procedure. This information will help doctors take care of children and adults with MTM and help researchers prepare for future clinical trials. This study is co-led by the CMDIR and the University of Michigan.
more info

Note: this study has completed.  Dr. de Chastonay shared some preliminary data at our 2015 Family Conference, and the results were included in a paper published in 2017.
MTM Genetic Testing Study
Sabine de Chastonay, PhD, CMDIR
A study is underway offering fully-funded MTM genetic testing to QUALIFIED patients residing in the USA and Canada. Genetic confirmation of an MTM mutation is one of the eligibility requirements to enroll in the current studies (such as the Natural History Study and MTM Event Study) and future clinical trials.
more info
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