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

Overview

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.

Full Title of Study: “The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Retrospective
  • Study Primary Completion Date: December 2019

Interventions

  • Other: Non-interventional, retrospective medical chart review
    • Non-interventional, retrospective medical chart review

Arms, Groups and Cohorts

  • XLMTM patients – deceased
    • Non-interventional, retrospective medical chart review
  • XLMTM patients – living
    • Non-interventional, retrospective medical chart review

Clinical Trial Outcome Measures

Primary Measures

  • Survival
    • Time Frame: Lifetime, up to 50 years
    • Descriptive statistics: mean, median, range for age at death for deceased patients, mean, median, range for current age for living patients

Secondary Measures

  • Age at diagnosis
    • Time Frame: Lifetime, up to 50 years
    • Descriptive statistics: mean, median, range for age of definitive diagnosis
  • Age at tracheostomy (if applicable)
    • Time Frame: Lifetime, up to 50 years
    • Descriptive statistics: mean, median, range for number of patients requiring tracheostomy (if applicable) and average age at tracheostomy
  • Age at need for/type of ventilation (if applicable)
    • Time Frame: Lifetime, up to 50 years
    • Descriptive statistics: mean, median, range for number of patients requiring ventilation (if applicable) and type of ventilation

Participating in This Clinical Trial

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)

Gender Eligibility: Male

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Audentes Therapeutics
  • Provider of Information About this Clinical Study
    • Sponsor

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