Summary
This retrospective medical chart review (RECENSUS) of approximately 100 XLMTM patients (with a goal to obtain 50 deceased and 20 living records) will provide further knowledge about the clinical manifestations and recorded medical management of XLMTM and potentially inform the design of future therapeutic intervention studies.
Conditions
Males With X-linked Myotubular Myopathy (XLMTM)
Recruitment Status
Completed
Eligibility Criteria
Inclusion Criteria:
Patient diagnosed with XLMTM resulting from a confirmed mutation in the MTM1 gene, or a combination of XLMTM genetically confirmed family history and muscle biopsy
Patient is male
Access to available medical records for each patient
Signed informed consent by the parent(s) or legal guardians and/or assent by the patient (when applicable), unless the associated IRB provides an appropriate consent waiver
Exclusion Criteria:
Patient data after participation in an interventional study designed to treat XLMTM (patient data prior to participation in an interventional study may be included)
Intervention
Intervention Type
Intervention Name
Other
Non-interventional, retrospective medical chart review
Gender
Male
Min Age
N/A
Max Age
N/A
Download Date
July 29, 2022
Principal Investigator
N/A
Primary Contact Information
For more information on this trial, visit clinicaltrials.gov.
Contact
For more information and to contact the study team: