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

July 27, 2022 updated by: Astellas Gene Therapies

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

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

161

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United Kingdom
      • London, United Kingdom
        • Great Ormond Street Hospital
      • Manchester, United Kingdom
        • Royal Manchester Children's Hospital
  • United States
    • California
      • San Pedro, California, United States, 90732
        • Cure CMD
    • Colorado
      • Aurora, Colorado, United States, 80045
        • Children's Hospital Colorado
    • Florida
      • Gainesville, Florida, United States, 32610
        • University of Florida - Gainesville, Children's Research Institute
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Lurie Children's Hospital
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Boston Children's Hospital
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • The Children's Hospital of Philadelphia

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Sampling Method

Non-Probability Sample

Study Population

Males with X-linked myotubular myopathy

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
XLMTM patients - deceased
Non-interventional, retrospective medical chart review
Other: Non-interventional, retrospective medical chart review
Non-interventional, retrospective medical chart review
XLMTM patients - living
Non-interventional, retrospective medical chart review
Other: Non-interventional, retrospective medical chart review
Non-interventional, retrospective medical chart review

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
Lifetime, up to 50 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Age at diagnosis
Time Frame: Lifetime, up to 50 years
Descriptive statistics: mean, median, range for age of definitive diagnosis
Lifetime, up to 50 years
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
Lifetime, up to 50 years
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
Lifetime, up to 50 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Astellas Gene Therapies

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2014

Primary Completion (ACTUAL)

December 1, 2019

Study Completion (ACTUAL)

December 1, 2019

Study Registration Dates

First Submitted

August 28, 2014

First Submitted That Met QC Criteria

September 2, 2014

First Posted (ESTIMATE)

September 4, 2014

Study Record Updates

Last Update Posted (ACTUAL)

July 29, 2022

Last Update Submitted That Met QC Criteria

July 27, 2022

Last Verified

July 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ATX-MTM-001 RECENSUS

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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