RecruitingNCT02890342
Metabolic
Propionic Acidemia
Also known as PA, propionyl-CoA carboxylase deficiency, PCC deficiency, ketotic hyperglycinemia
Propionic acidemia is an organic acidemia caused by deficiency of propionyl-CoA carboxylase, a biotin-dependent enzyme that catabolizes propionyl-CoA to methylmalonyl-CoA. Accumulation of propionic acid and toxic metabolites causes recurren
ORPHA:35 ↗Gene PCCAGene PCCBPrevalence 1-9 per 100,000 (Orphanet)Onset Neonatal, InfantileAutosomal recessive genetic
8
studies recruiting now
as of 7 Sept 2026
26
studies registered in total
as of 7 Sept 2026
10
countries with a recruiting site
as of 7 Sept 2026
12 Jun 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 1NCT07643844
AAVrh10-PCCA Gene Therapy for Propionic Acidemia
RecruitingPhase 1 / Phase 2NCT05130437
A Study to Assess the Long-term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 Study
RecruitingNCT05769621
A Retrospective Study to Characterize Participants With Propionic Acidemia
RecruitingPhase 1 / Phase 2NCT04159103
Open-Label Study of mRNA-3927 in Participants With Propionic Acidemia
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 8 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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Registry: Propionic Acidemia Foundation Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Propionic Acidemia
Propionic acidemia is an organic acidemia caused by deficiency of propionyl-CoA carboxylase, a biotin-dependent enzyme that catabolizes propionyl-CoA to methylmalonyl-CoA. Accumulation of propionic acid and toxic metabolites causes recurrent metabolic crises, hyperammonemia, cardiomyopathy, and progressive neurological damage. Long-term complications include dilated cardiomyopathy, which is a leading cause of death in older patients.
Common clinical features
Metabolic crisis with vomitingHyperammonemiaCardiomyopathyNeutropeniaPancreatitisIntellectual disabilityMovement disorder
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment and 3 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Carglumic Acid (Carbaglu)
Phase 1Sodium Citrate (Canesten oasis)
Phase 1Ornithine
Phase 1Glutamine (Endari)
Before you apply
Things trial teams commonly ask about for Propionic Acidemia. Not eligibility rules; those are set by each study.
- Cardiomyopathy status is a critical eligibility factor — echocardiographic data is typically required at screening
- Plasma propionylcarnitine (C3) and urinary methylcitrate are the key biomarkers for eligibility and monitoring
- Liver transplantation reduces metabolic crisis frequency but does not resolve cardiomyopathy — transplant status affects trial eligibility
- mRNA therapy trials (e.g., mRNA-3927) may require a minimum number of metabolic crises in the prior year as inclusion criteria
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).