RecruitingPhase 1NCT06217861
Metabolic
Glutaric Aciduria Type 1
Also known as GA1, glutaric acidemia type 1, glutaryl-CoA dehydrogenase deficiency, GCDH deficiency
Glutaric aciduria type 1 is an organic acidemia caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase, an enzyme involved in lysine and tryptophan catabolism. The hallmark feature is susceptibility to acute striatal injur
ORPHA:25 ↗Gene GCDHPrevalence 1-9 per 100,000 (Orphanet)Onset Infantile, ChildhoodAutosomal recessive genetic
2
studies recruiting now
as of 7 Sept 2026
7
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
23 Jan 2024
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT04602325
Systemic Biomarkers of Brain Injury From Hyperammonemia
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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About Glutaric Aciduria Type 1
Glutaric aciduria type 1 is an organic acidemia caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase, an enzyme involved in lysine and tryptophan catabolism. The hallmark feature is susceptibility to acute striatal injury during febrile illness in the first 6 years of life, causing dystonia and dyskinesia that can be severely disabling. Many patients are macrocephalic at birth, and some are identified through newborn screening before the first crisis.
Common clinical features
MacrocephalyAcute striatal crisis during illnessDystoniaDyskinesiaFrontotemporal atrophy on MRIHypotoniaSubdural hemorrhage
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Glutaric Aciduria Type 1. Not eligibility rules; those are set by each study.
- Crisis prevention through emergency protocols during illness is standard care — trial sites must accommodate emergency management plans
- Urinary glutarylcarnitine and plasma C5DC acylcarnitine are the key eligibility biomarkers
- Post-crisis patients with established dystonia are a distinct cohort from pre-crisis or pre-symptomatic patients
- Newborn screening programs vary by country — documentation of screening status and variant classification is required
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).