MTM Phone-Based 'Event' Study Now Open

Researchers conducting a study of medical changes and complications in myotubular myopathy (MTM) are seeking individuals with MTM or their parents for 12 monthly phone interviews

MTM event study coordinator Sabine de Chastonay
Article Highlights:
  • Researchers from the Congenital Muscle Disease International Registry (CMDIR) and the University of Michigan seek to understand medical events (complications) and changes in motor and respiratory function associated with myotubular myopathy (MTM).
  • The study will involve monthly telephone surveys of individuals with MTM or their parents, conducted over a year's time.
  • The study is intended to improve MTM care and help design future MTM clinical trials.
by Margaret Wahl on May 3, 2013 - 11:05am

The Myotubular Myopathy Event Study, a telephone-based survey, will gather information about MTM-associated events, such as emergency room visits, hospitalizations, medication reactions, and complications from medical procedures, as well as improved or declined motor and respiratory function.

This study seeks participants who either have this disorder or are the parents of a male child with this disorder, which is an X chromosome-linked form of centronuclear myopathy (CNM).

The goal of the study is to help doctors take care of children and adults with MTM and help researchers prepare for future clinical trials.

The study is co-led by the Congenital Muscle Disease International Registry (CMDIR) and the University of Michigan.

Prospective participants must

  • have MTM or be a parent of a child with MTM;
  • have an MTM diagnosis confirmed by genetic testing or by a muscle biopsy consistent with MTM and a family history consistent with X-linked inheritance;
  • be English-speaking;
  • agree to participate in one telephone survey each month for a year (12 surveys), with the first survey estimated to take an hour and subsequent surveys estimated to take 25 minutes each;
  • agree to have records related to diagnosis, birth, emergency room visits and hospitalizations collected; and
  • register with the CMDIR.

To participate

Contact Sabine de Chastonay in Los Angeles at (424) 265-0874 or

For more information

To learn more, see:

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