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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

161 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-09-30

Study Completion Date

2019-12-31

Brief Summary

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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.

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Detailed Description

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Conditions

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Males With X-linked Myotubular Myopathy (XLMTM)

Study Design

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Observational Model Type

OTHER

Study Time Perspective

RETROSPECTIVE

Study Groups

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XLMTM patients - deceased

Non-interventional, retrospective medical chart review

Intervention Type OTHER

Non-interventional, retrospective medical chart review

XLMTM patients - living

Non-interventional, retrospective medical chart review

Intervention Type OTHER

Non-interventional, retrospective medical chart review

Interventions

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Non-interventional, retrospective medical chart review

Intervention Type OTHER

Eligibility Criteria

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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)

Eligible Sex

MALE

Accepts Healthy Volunteers

No