PatientCrossroads CMD


MTM1 Carrier Survey

Study Start:  May 2014
The Beggs Lab invites MTM1 carriers and any mother who has had a son diagnosed with X-linked myotubular myopathy (XLMTM) to complete a questionnaire about their medical history and current abilities. When a boy has inherited a genetic change in the MTM1 gene, he is affected with X-linked myotubular myopathy. We hope to learn more about what symptoms, if any, mothers of children with XLMTM may have to be better able to characterize the impact of MTM1 mutations on the body.
Study Details
Women who choose to complete this questionnaire will be asked to answer questions about their past medical history and current health status during a telephone interview. This call will take between 30 to 45 minutes and can be scheduled at your convenience. We will send the questionnaire to you in advance if you would like to review the questions prior to our scheduled phone call. 
If you would like to complete this questionnaire for MTM1 carriers, please contact Lindsay Swanson, the genetic counselor for the Beggs Lab, to discuss how to get involved as a participant in the Beggs Lab. If you are already enrolled as a participant and would like to participate in this questionnaire, please contact Lindsay to arrange a time for the telephone interview. 

Primary Outcome Measures
Characterizing the impact of MTM1 mutations on females.

Inclusion criteria:
  • MTM1 carriers, women who are not MTM1 carriers but have a son with XLMTM, and mothers of sons with XLMTM who do not know their carrier status are all welcome to participate. 
  • Age: Women must be 18 years of age or older and enrolled in the Beggs Lab to participate.
  • Country:  U.S. and international participants welcome.

Exclusion criteria:

  • Males

Casie Genetti, MS, CGC
Phone: 617-919-2169
Email: This e-mail address is being protected from spambots. You need JavaScript enabled to view it ID:  NCT00272883