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.
Study Type
OBSERVATIONAL
Enrollment
161
Non-interventional, retrospective medical chart review
Cure CMD
San Pedro, California, United States
Children's Hospital Colorado
Aurora, Colorado, United States
University of Florida - Gainesville, Children's Research Institute
Gainesville, Florida, United States
Lurie Children's Hospital
Chicago, Illinois, United States
Survival
Descriptive statistics: mean, median, range for age at death for deceased patients, mean, median, range for current age for living patients
Time frame: Lifetime, up to 50 years
Age at diagnosis
Descriptive statistics: mean, median, range for age of definitive diagnosis
Time frame: Lifetime, up to 50 years
Age at tracheostomy (if applicable)
Descriptive statistics: mean, median, range for number of patients requiring tracheostomy (if applicable) and average age at tracheostomy
Time frame: Lifetime, up to 50 years
Age at need for/type of ventilation (if applicable)
Descriptive statistics: mean, median, range for number of patients requiring ventilation (if applicable) and type of ventilation
Time frame: Lifetime, up to 50 years
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Boston Children's Hospital
Boston, Massachusetts, United States
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Great Ormond Street Hospital
London, United Kingdom
Royal Manchester Children's Hospital
Manchester, United Kingdom