RecruitingNCT04948658
Metabolic
Classic Galactosemia
Also known as GALT deficiency, galactose-1-phosphate uridyltransferase deficiency, type I galactosemia
Classic galactosemia is caused by severe deficiency of galactose-1-phosphate uridyltransferase (GALT), which is essential for metabolizing galactose found in lactose (milk sugar). Newborns present with jaundice, liver failure, E.
ORPHA:79239 ↗Gene GALTPrevalence 1-9 per 100,000 (Orphanet)Onset NeonatalAutosomal recessive genetic
2
studies recruiting now
as of 7 Sept 2026
12
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
10 Mar 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT07461519
Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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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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About Classic Galactosemia
Classic galactosemia is caused by severe deficiency of galactose-1-phosphate uridyltransferase (GALT), which is essential for metabolizing galactose found in lactose (milk sugar). Newborns present with jaundice, liver failure, E. coli sepsis, and cataracts within days of milk feeding. Despite dietary galactose restriction, most patients develop long-term complications including intellectual disability, speech problems, and in females, primary ovarian insufficiency.
Common clinical features
Neonatal liver failureCataractsE. coli neonatal sepsisIntellectual disabilitySpeech apraxiaPrimary ovarian insufficiencyTremor
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
2 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Govorestat
Phase 2Arginine Aspartate
Before you apply
Things trial teams commonly ask about for Classic Galactosemia. Not eligibility rules; those are set by each study.
- Erythrocyte GALT enzyme activity is the gold standard diagnostic test — Beutler test results should be documented
- Galactose-1-phosphate level in red blood cells is the primary efficacy biomarker in dietary and drug trials
- Long-term complication trials (cognitive, fertility) often enroll adults with confirmed classic galactosemia on lifelong galactose restriction
- New substrate reduction and small molecule therapies are in early trials — no prior investigational therapy is typically an inclusion criterion
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).