A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)

Astellas

Status

Completed

Conditions

Males With X-linked Myotubular Myopathy (XLMTM)

Treatments

Other: Non-interventional, retrospective medical chart review

Study type

Observational

Funder types

Industry

Identifiers

NCT02231697

ATX-MTM-001 RECENSUS

Details and patient eligibility

About

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.

Enrollment

161 patients

Sex

Male

Volunteers

No Healthy Volunteers

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)