Natural History of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
Icahn School of Medicine at Mount Sinai
Summary
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.
Description
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, que…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * 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 Exclusion Criteria: \- Presence of a major unrelated condition
Locations (2)
- Children's Hospital Colorado Anschutz Medical CampusAurora, Colorado
- Icahn School of Medicine at Mount SinaiNew York, New York