A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
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ClinicalTrials.gov Identifier: NCT02231697 |
Recruitment Status :
Completed
First Posted : September 4, 2014
Last Update Posted : January 21, 2020
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Condition or disease | Intervention/treatment |
---|---|
Males With X-linked Myotubular Myopathy (XLMTM) | Other: Non-interventional, retrospective medical chart review |
Study Type : | Observational |
Actual Enrollment : | 161 participants |
Observational Model: | Other |
Time Perspective: | Retrospective |
Official Title: | The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) |
Study Start Date : | September 2014 |
Actual Primary Completion Date : | December 2019 |
Actual Study Completion Date : | December 2019 |

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 |
- 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
- 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

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Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | Male |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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)

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02231697
United States, California | |
Cure CMD | |
San Pedro, California, United States, 90732 | |
United States, Colorado | |
Children's Hospital Colorado | |
Aurora, Colorado, United States, 80045 | |
United States, Florida | |
University of Florida - Gainesville, Children's Research Institute | |
Gainesville, Florida, United States, 32610 | |
United States, Illinois | |
Lurie Children's Hospital | |
Chicago, Illinois, United States, 60611 | |
United States, Massachusetts | |
Boston Children's Hospital | |
Boston, Massachusetts, United States, 02115 | |
United States, Pennsylvania | |
The Children's Hospital of Philadelphia | |
Philadelphia, Pennsylvania, United States, 19104 | |
United Kingdom | |
Great Ormond Street Hospital | |
London, United Kingdom | |
Royal Manchester Children's Hospital | |
Manchester, United Kingdom |
Responsible Party: | Audentes Therapeutics |
ClinicalTrials.gov Identifier: | NCT02231697 |
Other Study ID Numbers: |
ATX-MTM-001 RECENSUS |
First Posted: | September 4, 2014 Key Record Dates |
Last Update Posted: | January 21, 2020 |
Last Verified: | February 2019 |
XLMTM |
Muscular Diseases Myopathies, Structural, Congenital Musculoskeletal Diseases Neuromuscular Diseases Nervous System Diseases |