Study of Progression in CNM/MTM, CCD, Multiminicore Disease Is Open

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Investigators at the University of Michigan in Ann Arbor are conducting a study of the progression of centronuclear myopathies (CNMs), including the type known as myotubular myopathy (MTM); central core disease (CCD) and multiminicore disease. The study is intended to:

• assess the progression of CNMs, CCD and multiminicore disease;
• identify potential therapeutic targets for these disorders;
• help investigators prepare for clinical trials; and
• help medical professionals provide better patient care.

James Dowling at the University of Michigan is the prinicpal investigator on the study of the progression of CNM, MTM and CCD.

The principal investigator is James Dowling, an assistant professor in the Department of Pediatrics and Department of Neurology at the University of Michigan, where he has MDA support for laboratory research into potential therapies for MTM.

Dowling is also co-director of the MDA neuromuscular disease clinic in Ann Arbor. (The clinical progression study is not, however, sponsored by MDA.)

Participants in the progression study must:

• have a confirmed diagnosis of CNM, MTM, CCD or multiminicore disease by muscle biopsy or genetic testing, or be a family member of someone who had a confirmed diagnosis of one of these disorders but is no longer living;

• fill out a survey and family history, which are expected take about an hour-and-a-half, every year for five years (required; can be completed on paper, online or over the phone);

• allow collection by the investigators of selected medical records (required); and

• consider undergoing a physical exam, pulmonary function testing and nerve conduction velocity testing, every five years (optional; must be completed at the University of Michigan)

Confidentiality will be maintained, with every participant given an identification number. No personal information will be shared with anyone outside the study team.

To participate

Contact study coordinator Kim Amburgy in Ann Arbor at (734) 647-9224 or kamburg@med.umich.edu.

For more details, see Natural History of Centronuclear/Myotubular and Other RYR1-Related Myopathies. Some study-related forms are available from this website.

About Clinical Trials A clinical trial is a test, in humans, of an experimental treatment. Although it's possible that benefit may be derived from participating in a clinical trial, it's also possible that no benefit, or even harm, may occur. MDA has no ability to influence who is chosen to participate in a clinical trial. To learn more, see Understanding Clinical Trials and Being a Co-Adventurer, which is about neuromuscular disease clinical trials. To see a continuously updated database of clinical trials, go to ClinicalTrials.gov.