Current Environment:

Alert

ENFit Feeding Tube Adapters

GI Feeding Tube Users: if you do not have ENFit tubes, you may need an adapter to deliver feeds or medications. Contact your pharmacy or home care company.

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: