Metabolic
Isovaleric Acidemia
Also known as IVA, isovaleryl-CoA dehydrogenase deficiency, IVD deficiency, isovaleric acid CoA dehydrogenase deficiency
Isovaleric acidemia is an organic acidemia caused by deficiency of isovaleryl-CoA dehydrogenase, an enzyme involved in leucine catabolism. Accumulation of isovaleric acid and its metabolites causes a distinctive 'sweaty feet' body odor and
0
studies recruiting now
as of 7 Sept 2026
7
studies registered in total
as of 7 Sept 2026
0
countries with a recruiting site
as of 7 Sept 2026
None
recruiting study posted to date
among recruiting studies
Recruiting trials
No recruiting trial found right now.
7 studies are registered for Isovaleric Acidemia, but none was recruiting as of 7 Sept 2026. Here is what is still worth doing.
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About Isovaleric Acidemia
Isovaleric acidemia is an organic acidemia caused by deficiency of isovaleryl-CoA dehydrogenase, an enzyme involved in leucine catabolism. Accumulation of isovaleric acid and its metabolites causes a distinctive 'sweaty feet' body odor and can lead to acute metabolic crises with vomiting, lethargy, and coma. The clinical spectrum ranges from severe neonatal-onset disease to a chronic intermittent form identified through newborn screening.
Common clinical features
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Isovaleric Acidemia. Not eligibility rules; those are set by each study.
- Newborn screening identification versus symptomatic diagnosis affects disease severity and trial stratification
- Plasma isovalerylcarnitine (C5) level is the primary biomarker — document newborn screening results if available
- Glycine and carnitine supplementation history should be disclosed as it affects metabolite levels
- Mild/asymptomatic newborn-screened patients may qualify for natural history studies rather than interventional trials
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).