- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02231697
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
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
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London, United Kingdom
- Great Ormond Street Hospital
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Manchester, United Kingdom
- Royal Manchester Children's Hospital
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California
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San Pedro, California, United States, 90732
- Cure CMD
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Colorado
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Aurora, Colorado, United States, 80045
- Children's Hospital Colorado
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Florida
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Gainesville, Florida, United States, 32610
- University of Florida - Gainesville, Children's Research Institute
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Illinois
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Chicago, Illinois, United States, 60611
- Lurie Children's Hospital
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Massachusetts
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Boston, Massachusetts, United States, 02115
- Boston Children's Hospital
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Pennsylvania
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Philadelphia, Pennsylvania, United States, 19104
- The Children's Hospital of Philadelphia
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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
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Non-interventional, retrospective medical chart review
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XLMTM patients - living
Non-interventional, retrospective medical chart review
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Non-interventional, retrospective medical chart review
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Survival
Time Frame: Lifetime, up to 50 years
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Descriptive statistics: mean, median, range for age at death for deceased patients, mean, median, range for current age for living patients
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Lifetime, up to 50 years
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Age at diagnosis
Time Frame: Lifetime, up to 50 years
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Descriptive statistics: mean, median, range for age of definitive diagnosis
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Lifetime, up to 50 years
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Age at tracheostomy (if applicable)
Time Frame: Lifetime, up to 50 years
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Descriptive statistics: mean, median, range for number of patients requiring tracheostomy (if applicable) and average age at tracheostomy
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Lifetime, up to 50 years
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Age at need for/type of ventilation (if applicable)
Time Frame: Lifetime, up to 50 years
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Descriptive statistics: mean, median, range for number of patients requiring ventilation (if applicable) and type of ventilation
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Lifetime, up to 50 years
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Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
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.
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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