Update (May 20, 2014): This story has been updated to reflect additional information received May 20, 2014, from Michelle Nelken at Valerion Therapeutics, including the joint sponsorship of this study by Valerion and Genethon.
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, sponsored by Concord, Mass.-based biotechnology company Valerion Therapeutics and French nonprofit organization Genethon, will follow study participants for three years, during which time they will perform functional assessments, analyze 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.
"The study, which is jointly sponsored by Valerion and Genethon, is intended to observe and quantify changes over time in muscle and respiratory function, quality of life and disability in patients with MTM," said Michelle Nelken of Valerion Therapeutics. "It is open to all symptomatic patients, male and female, and will be conducted in North America and Europe. Participating sites and other contact information, along with eligibility information, can be found on ClinicalTrials.gov, which will be updated regularly to provide information on new sites. We hope to enroll our first patients, both in the U.S. and European Union, shortly. The information we obtain from this study will be used to inform the design of clinical studies with both gene therapy and enzyme replacement therapy."
MTM therapies in development
One experimental therapy for MTM, based on administering the myotubularin protein (deficient in MTM-affected muscles), is in development by Valerion, with MDA support.
Another experimental treatment for MTM, based on administering the gene for the myotubularin protein, also has received MDA support and recently was 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.
To participate in the MTM natural history study
For details about the MTM natural history study, see Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM); or enter NCT02057705 in the search box at ClinicalTrials.gov.
Or, contact Michelle Nelken in the Boston area at (617) 755-4149 or firstname.lastname@example.org. For the French site, contact Melanie Annoussamy at +33 1 42 16 66 49 or email@example.com.
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.