Update on University of Michigan Natural History Study for MTM-1, CNM and RYR1-Related Myopathies 

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
• help medical professionals provide better patient care

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)
• 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)

Currently, 59 people have enrolled. We would like to continue to encourage those who have not enrolled to enroll!. For more information, Click Here.

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    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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