The purpose of this study is to characterize manifesting carriers to identify key symptoms, and to define clinical trial endpoint variability. Myotubular myopathy is an X-linked disorder for which currently no treatment or cure is available. The majority of affected individuals are males; however a series of 6 case reports have described a disease presentation in female manifesting carriers. Recent studies evaluating both small protein and gene therapy approaches present opportunities for future clinical trials in X-linked myotubular myopathy (XLMTM). Manifesting carriers may participate in future clinical trials and benefit from therapy developments.
1. Participants will schedule a telephone interview with Sabine de Chastonay, PhD, the study coordinator. During the interview, the study will be explained and consent obtained if interested. The participant will be asked to send in a signed study consent, register in the CMDIR, and sign a release for medical records.
2. If eligible, participants will be invited to travel to the National Institutes of Health (NIH), in Bethesda, MD, for a 2-day examination. All travel is coordinated and covered by the NIH.
3. There is no compensation for participation.
Females in the US and Canada who
1. are confirmed with a MTM1 mutation and manifesting with symptoms consistent with MTM
2. have a muscle biopsy consistent with myotubular myopathy and family history consistent with x-linked inheritance
3. are registered with the CMDIR
4. have provided written study consent by parent/caregiver (affected individual's age less than 18 years or for those individuals greater than 18 years with learning disabilities or inability to physically access consent) or affected individual (age greater than 18 years)
This study is conducted at the NIH. To participate in the study, contact the MTM Manifesting Carrier Study Coordinator:
Sabine de Chastonay, PhD, CMDIR Research Coordinator