Natural History of MADD
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorIcahn School of Medicine at Mount Sinai
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Have a biochemical and/or molecular diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), as confirmed by a study investigator
Provision of signed and dated informed consent form (and assent when applicable) from subject or subject's legal representative
Disqualifiers
None
Trial population
Individuals with a biochemical and/or molecular diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), as confirmed by a study investigator.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
50 Participants
are grouped into 1 trial groupGroup A: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
Trial outcomes
Primary outcomes
1
Number of participants enrolled in the patient registry
The number of participants enrolled in the patient registry will be assessed.
Time frame
5 yearsSecondary outcomes
1
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 age2
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 ageSponsors and contacts
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Source ClinicalTrials.gov