Why are we doing this Study?:
This study will help us understand how MTM changes over time, which will aid the design of better clinical trials in the future.
Our objectives are to:
- Characterize aspects of XLMTM and the recorded medical management of XLMTM.
- Identify potential disease parameters that can be used for prognosis.
- Identify potential outcome measures for future clinical trials.
What is it?:
This is a non-interventional, retrospective medical chart review study of XLMTM. Patient records from approximately 100 subjects (at least 50 deceased and 20 living) will be reviewed at approximately 12 clinical sites in the US and Europe, including the Congenital Muscle Disease International Registry (CMDIR).
What is involved?:
Your consent and medical information and records are all that are needed. This is a non-interventional study, meaning that no drugs, treatments, or clinical visits are needed. Trained researchers at a biotech firm interested in moving MTM towards clinical trials will synthesize the medical information from participants.
What you need to be included:
Patient is male and diagnosed with XLMTM resulting from either:
- confirmed mutation in the MTM1 gene or
- XLMTM genetically confirmed family history + muscle biopsy
For more information about this study, please contact:
Sabine de Chastonay, PhD.
MTM Study Coordinator at the CMDIR