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

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ClinicalTrials.gov Identifier: NCT02231697
Recruitment Status : Recruiting
First Posted : September 4, 2014
Last Update Posted : January 11, 2018
Sponsor:
Information provided by (Responsible Party):

Study Description
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

Study Type : Observational
Estimated Enrollment : 100 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
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : December 2018


Groups and Cohorts

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

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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
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

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


Contacts
Contact: Caroline Finlay, MPH 415-818-1089 cfinlay@audentestx.com

Locations
United States, California
Cure CMD Recruiting
San Pedro, California, United States, 90732
Contact: Rachel Alavarez    323-250-2399    rachel.alvarez@cmdir.org   
Contact: Sabine deChastonay, PhD    424-265-0874    sabine.dechastonay@cmdir.org   
Principal Investigator: Anne Rutkowski, MD         
Stanford University Medical Center Withdrawn
Stanford, California, United States, 94305
United States, Colorado
Children's Hospital Colorado Active, not recruiting
Aurora, Colorado, United States, 80045
United States, Florida
University of Florida - Gainesville, Children's Research Institute Active, not recruiting
Gainesville, Florida, United States, 32610
United States, Illinois
Lurie Children's Hospital Recruiting
Chicago, Illinois, United States, 60611
Contact: Lauren Webb    312-227-4483    lwebb@luriechildrens.org   
Principal Investigator: Nancy Kuntz, MD         
United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Lindsay Swanson, MS, CGC    617-355-5111    lindsay.swanson@childrens.harvard.edu   
Principal Investigator: Alan Beggs, PhD         
United States, Pennsylvania
The Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact    215-590-1719    yums@email.chop.edu   
Principal Investigator: Sabrina Yum, MD         
United States, Washington
Seattle Children's Hospital Withdrawn
Seattle, Washington, United States, 98105
United Kingdom
Great Ormond Street Hospital Recruiting
London, United Kingdom
Contact: Chilenwa Uzowuru    +44 20 7905 2639 ext 2639    c.uzowuru@ucl.ac.uk   
Principal Investigator: Francesco Muntoni, MD, FRCPCH, FMed Sci         
Royal Manchester Children's Hospital Recruiting
Manchester, United Kingdom
Contact    +44 161 7012544    Imelda.Hughes@cmft.nhs.uk   
Principal Investigator: M Imelda Hughes, MRCP, FRCPCH         
Sponsors and Collaborators
Audentes Therapeutics
More Information

Responsible Party: Audentes Therapeutics
ClinicalTrials.gov Identifier: NCT02231697     History of Changes
Other Study ID Numbers: ATX-MTM-001 RECENSUS
First Posted: September 4, 2014    Key Record Dates
Last Update Posted: January 11, 2018
Last Verified: January 2018

Keywords provided by Audentes Therapeutics:
XLMTM

Additional relevant MeSH terms:
Muscular Diseases
Myopathies, Structural, Congenital
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases