Get involved in research for myotubular and centronuclear myopathy

Your involvement in each area of research is critical as we prepare for clinical trials. Whether your loved one is living or deceased your involvement will make a huge contribution to the work our researchers are doing. Below we have listed all involvement pertaining to CNM/MTM along with a brief description of each.

  1. International Family Registry /global map – Where are you on the map?
  2. Beggs Lab - Help us learn more about MTM and other Centronculear myopathies.
  3. Register with CMDIR - You don't need genetic confirmation to register.
  4. MTM Genetic Testing Study - Don't have genetic confirmation from a commercial lab? Go here.
  5. MTM Manifesting Carrier Study-The purpose of this study is to characterize manifesting carriers to identify key symptoms, and to define clinical trial endpoint variability. 
  6. MTM Event Study - Help us determine the rate of MTM complications and hospital admissions over a 12-month period. This information will be used to help design future clinical trials.
  7. CMDIR Tissue Repository - Opportunities to accelerate research through tissue donation.
  8. Titin Study - An exciting opportunity at the National Institute of Health in Washington DC
  9. MTM Carrier Survey -The Beggs Lab invites MTM1 carriers to complete a questionnaire examining the features and possible symptoms present in women
  10. Prospective, Longitudinal Study of Natural History and Function - this study is intended to observe and quantify changes over time in muscle and respiratory function, quality of life and disability in patients with MTM.
  11. CNM/MTM Patient Registry – international patient registry
  12. RECENCUS /INCEPTUS/ ASPIRO Studies  - Audentes Therapeutics studies on Myotubular Myopathy 
  13. Clinical Center Genomics Opportunity- The National Institutes of Health (NIH) has free genetic testing slots available for individuals with undiagnosed muscle conditions.  This can include people with Titin variants of unknown significance.                                                         

Webinars:

 The Journey to Clinical Trials - Part 1 with Alan Beggs, PhD - Feb 1st, 2014