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

Completed

Conditions studied: Males With X-linked Myotubular Myopathy (XLMTM)

In brief

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.

Key facts

Study ID

NCT02231697

Run by

Astellas Gene Therapies

People needed

161

Starts

2014-09-01

Expected to finish

2019-12-01

Last updated by the study team

2022-07-29

Who can join

Age: any. Sex: male. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• Patient data after participation in an interventional study designed to treat XLMTM (patient data prior to participation in an interventional study may be included)

Where it is running

• Cure CMD — San Pedro, California, United States
• Children's Hospital Colorado — Aurora, Colorado, United States
• University of Florida - Gainesville, Children's Research Institute — Gainesville, Florida, United States
• Lurie Children's Hospital — Chicago, Illinois, United States
• Boston Children's Hospital — Boston, Massachusetts, United States
• The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
• Great Ormond Street Hospital — London, United Kingdom
• Royal Manchester Children's Hospital — Manchester, United Kingdom

Full record on ClinicalTrials.gov

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