The objective of this study is to conduct a longitudinal, observational investigation to determine the natural history of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), delineate the spectrum of its clinical features and their progression, identify biomarkers, and develop and validate patient reported outcomes.
Participants with a confirmed molecular diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) will complete annual follow-ups (or every 6 months for participants under 2 years of age). Participants with a biochemical diagnosis, but without a molecular diagnosis, will complete baseline evaluations and will not complete further annual assessments if a molecular diagnosis is not made following the baseline evaluations. Study activities will involve standard of care clinical assessments and medical record data abstraction for such assessments, as well as research-specific assessments, questionnaires, and sample collection.
Study Type
OBSERVATIONAL
Enrollment
50
Children's Hospital Colorado Anschutz Medical Campus
Aurora, Colorado, United States
NOT_YET_RECRUITINGIcahn School of Medicine at Mount Sinai
New York, New York, United States
RECRUITINGNumber of participants enrolled in the patient registry
The number of participants enrolled in the patient registry will be assessed.
Time frame: 5 years
Patient-Reported Outcomes Measurement Information System Scale (PROMIS 10)
The Patient-Reported Outcomes Measurement Information System Scale (PROMIS 10) is a series of person-centered measures that evaluate and monitor physical, mental, and social health in adults and children consisting of a 10-item patient-reported questionnaire. This questionnaire is standardized to the general population, using the "T-Score." The average "T-Score" for the United States population is 50 points, with a standard deviation of 10 points. A higher score indicates a healthier patient.
Time frame: Yearly, up to 5 years or every 6 months if participant is under 2 years of age
Vineland Adaptive Behavior Scale (VABS)
The Vineland Adaptive Behavior Scale (VABS) is a semi-structured interview designed to assess global adaptive functioning, composed of 3 main domains: Communication (COM), Daily Living Skills (DLS), and Socialization (SOC). All domains are reported in terms of standard scores as described in the VABS manual, with a mean score of 100 and a standard deviation of 15. The Adaptive Behavior Composite ABC (total score) is the sum of the raw scores from the three main domains. These are transformed into standard scores with a mean score of 100 and a standard deviation of 15. The higher the score, the better the adaptive behavior.
Time frame: Yearly, up to 5 years or every 6 months if participant is under 2 years of age
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