Observational Study of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)

This is an observational study looking at the natural history of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), a genetic condition. Researchers want to understand how MADD changes over time, what its symptoms are, and to find ways to measure the disease's progression. This study is not testing a new treatment. You can join if you have a confirmed diagnosis of MADD. The main goal is to enroll 50 participants in a patient registry over five years. The current recruitment status is unclear.

Study design
This is an observational study, meaning researchers will watch and collect information without giving any specific treatments. It plans to include 50 participants.
What's involved
If you have a molecular diagnosis, you will have annual follow-ups (or every 6 months if under 2 years old). This involves standard medical assessments, questionnaires, and sample collection.
Compensation
Not stated in the trial record.
Follow-up
Participants with a molecular diagnosis will have annual follow-ups, or every 6 months for those under 2 years old.

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NCT07734090

Natural History of MADD

Not Yet Recruiting
Not specifiedAll AgesObservational
Icahn School of Medicine at Mount Sinai
~50 participants
Updated 2026-07-29 on ClinicalTrials.gov

At a glance

Recruiting sites
0 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Number of participants enrolled in the patient registry
Measured over 5 years
Multiple Acyl-CoA Dehydrogenase Deficiency
2 sites across 2 states
Colorado1
New York1
  • Mary Kate LoPiccolo, MD · PRINCIPAL_INVESTIGATOR · Icahn School of Medicine at Mount Sinai

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Eligibility criteria

Inclusion

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
  • Number of participants enrolled in the patient registry5 years

    The number of participants enrolled in the patient registry will be assessed.