Natural history of MADD: what happens over time in people with this condition
Official title: Natural History of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
Run by Icahn School of Medicine at Mount Sinai · NCT07734090 · Data updated 2026-11-12
This study follows people with MADD over time to see how the condition changes, what symptoms appear, and which biomarkers and patient-reported outcomes are meaningful.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 50 (estimated) |
| Sponsor | Icahn School of Medicine at Mount Sinai Academic / other |
| Locations | 2 sites (Aurora, Colorado and 1 other locations) |
| Status | Recruiting |
| Started | October 2026 |
| Main results expected | July 2031 |
| Study ends | July 2031 |
| Registry record updated | September 16, 2026 |
| Trial ID | NCT07734090 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Individuals with a biochemical and/or molecular diagnosis of MADD, or those with a biochemical diagnosis who may obtain a molecular confirmation.
✕Probably not a fit
Participants without MADD or without progression information may not benefit from study findings.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is an observational, longitudinal study of individuals with MADD to describe the natural history, clinical features, and progression. Participants will undergo annual follow-ups or semiannual visits if under 2 years old, with data from standard care assessments, medical records, questionnaires, and biomarker samples collected for research. Molecularly confirmed and biochemically diagnosed participants are included, with the latter followed only at baseline unless a molecular diagnosis is later established. The study aims to identify biomarkers and develop and validate patient-reported outcomes to better understand the patient experience. Data will be collected at two collaborating institutions in Colorado and New York.
Why it matters
Potential benefit: Findings could improve understanding of MADD progression and support development of patient-reported outcomes for future research and care.
How similar studies have gone: Similar observational studies in metabolic disorders have helped map progression and identify biomarkers, though specific MADD data are limited.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
-
Icahn School of Medicine at Mount Sinai
New York, New York, United States Recruiting -
Children's Hospital Colorado Anschutz Medical Campus
Aurora, Colorado, United States Not yet recruiting
Study contacts
- Principal investigator: Mary Kate LoPiccolo, MD — Icahn School of Medicine at Mount Sinai
- Study coordinator: Mary Freeman, MS, CGC
- Email: mary.freeman@mssm.edu
- Phone: (347) 668-9162
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.