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Trial record 13 of 601 for:    Recruiting, Not yet recruiting, Available Studies | "Muscular Diseases"

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):
Audentes Therapeutics

August 28, 2014
September 4, 2014
January 11, 2018
September 2014
December 2018   (Final data collection date for primary outcome measure)
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
Same as current
Complete list of historical versions of study NCT02231697 on ClinicalTrials.gov Archive Site
  • 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
Same as current
Not Provided
Not Provided
 
A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
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.
Not Provided
Observational
Observational Model: Other
Time Perspective: Retrospective
Not Provided
Not Provided
Non-Probability Sample
Males with X-linked myotubular myopathy
Males With X-linked Myotubular Myopathy (XLMTM)
Other: Non-interventional, retrospective medical chart review
Non-interventional, retrospective medical chart review
  • XLMTM patients - deceased
    Non-interventional, retrospective medical chart review
    Intervention: Other: Non-interventional, retrospective medical chart review
  • XLMTM patients - living
    Non-interventional, retrospective medical chart review
    Intervention: Other: Non-interventional, retrospective medical chart review
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
100
December 2018
December 2018   (Final data collection date for primary outcome measure)

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)
Sexes Eligible for Study: Male
Child, Adult, Senior
No
Contact: Caroline Finlay, MPH 415-818-1089 cfinlay@audentestx.com
United Kingdom,   United States
 
 
NCT02231697
ATX-MTM-001 RECENSUS
No
Not Provided
Not Provided
Audentes Therapeutics
Audentes Therapeutics
Not Provided
Not Provided
Audentes Therapeutics
January 2018