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

Completed

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

• Registration Number: NCT02231697
• Lead Sponsor: Astellas Gene Therapies

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2014-08-28
• Study Start: 2014-09
• Study First Submitted QC: 2014-09-02
• Study First Posted: 2014-09-04
• Primary Completion: 2019-12
• Study Completion: 2019-12
• Status Verified: 2022-07
• Last Update Submitted: 2022-07-27
• Last Update Posted: 2022-07-29

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Male
• Target Recruitment: 161

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)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Survival	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 Outcome Measures

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

Trial Locations

Locations (8)

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