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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02231697
Recruitment Status : Completed
First Posted : September 4, 2014
Last Update Posted : January 21, 2020
Sponsor:
Information provided by (Responsible Party):
Audentes Therapeutics

Study Description
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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.

Condition or disease Intervention/treatment
Males With X-linked Myotubular Myopathy (XLMTM) Other: Non-interventional, retrospective medical chart review

Study Design
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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

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Muscle Disorders

Groups and Cohorts
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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


Outcome Measures
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Primary Outcome Measures :
  1. 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 Outcome Measures :
  1. Age at diagnosis [ Time Frame: Lifetime, up to 50 years ]
    Descriptive statistics: mean, median, range for age of definitive diagnosis

  2. 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

  3. 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


Eligibility Criteria
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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
Study Population
Males with X-linked myotubular myopathy
Criteria

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)
Contacts and Locations
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Information from the National Library of Medicine

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


Locations
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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
Sponsors and Collaborators
Audentes Therapeutics
More Information
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Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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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
Keywords provided by Audentes Therapeutics:
XLMTM
Additional relevant MeSH terms:
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Muscular Diseases
Myopathies, Structural, Congenital
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases