PatientCrossroads CMD


Prospective Event Rate Study in Males with X-linked Myotubular Myopathy

*****Recruitment is Closed for this Study*****


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. 
The study involves participation in one phone survey each month for one year (for a total of 12 surveys).  The first phone call is expected to take 60 minutes and subsequent monthly phone calls, 25 minutes.   Records related to diagnosis, birth and emergency room visits/hospitalizations will be collected.
English-speaking males with a confirmed diagnosis of muscle biopsy consistent with myotubular myopathy and family history consistent with X-linked inheritance
and/or genetic testing are invited to participate.
Contact Us
Dr. Sabine de Chastonay
MTM Event Study Coordinator
Phone:(424) 265-0874
Email: This e-mail address is being protected from spambots. You need JavaScript enabled to view it
This study was approved by the University of Michigan Institutional Review Board HUM00066029