Myotubular myopathy natural history study seeks participants

A study to track the natural history and functional capabilities of patients with myotubular myopathy (MTM), a form of centronuclear myopathy (CNM), is recruiting approximately 60 patients of any age (including newborns). There are three North American study sites, Boston, Bethesda, Md., Toronto, and a site in Paris.The investigators will follow study participants for three years, during which time they will perform functional assessments, analyse blood and urine samples, and administer questionnaires. Data from the study will be used to understand the usual disease course of MTM and decide which outcome measures would be best to use in testing potential therapies in future trials. One experimental therapy for MTM, based on administering the myotubularin protein is in development by Valerion. Another experimental treatment for MTM, based on administering the gene for the myotubularin protein, was recently found to benefit MTM-deficient dogs. A CNM/MTM registry and world map is seeking participation from people with these disorders or their family members and is designed to help recruit trial participants and speed research. The information is privacy-protected.