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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)

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.

Detailed Summary:
Sponsor: Audentes Therapeutics

Current Primary Outcome: 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


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • 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


Original Secondary Outcome: Same as current

Information By: Audentes Therapeutics

Dates:
Date Received: August 28, 2014
Date Started: September 2014
Date Completion: December 2017
Last Updated: January 31, 2017
Last Verified: November 2016