MTM-CNM Family Connection

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Current Studies

NEW! Now Recruiting:

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.

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CNM/MTM Natural History Study

James Dowling MD, PhD, University of Michigan

The Natural History of Centronuclear/Myotubular and other RYR1-related Myopathies will assess the progression of the condition over a 5 year period among those diagnosed with Centronuclear (CNM), Myotubular (MTM), and other RYR1-related myopathies (RM).  The study will help us to learn more about these conditions and to possibly identify other medical problems which may be screened for in patients with CNM/MTM/RM.  Together, this information could assist in creating a standard of care for CNM/MTM/RM.  A standard of care is the standard management guidelines for physicians to use when treating patients with a particular health condition.

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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.

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Molecular and Genetic Studies of Congenital Myopathies

Alan Beggs, PhD, Children's Hospital Boston/Harvard Medical School

In the Congenital Myopathy Research Program at Children's Hospital Boston 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.

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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.

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