RecruitingNot applicableNCT06941532
Metabolic
Tyrosinemia Type 1
Also known as HT1, fumarylacetoacetase deficiency, FAH deficiency, hepatorenal tyrosinemia
Tyrosinemia type 1 is the most severe form of tyrosinemia, caused by deficiency of fumarylacetoacetase (FAH), the final enzyme in the tyrosine degradation pathway. Accumulation of toxic metabolites, particularly succinylacetone, causes prog
ORPHA:882 ↗Gene FAHPrevalence 1-9 per 100,000 (Orphanet)Onset Infantile, ChildhoodAutosomal recessive genetic
1
studies recruiting now
as of 7 Sept 2026
20
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
23 Apr 2025
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, 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 Tyrosinemia Type 1
Tyrosinemia type 1 is the most severe form of tyrosinemia, caused by deficiency of fumarylacetoacetase (FAH), the final enzyme in the tyrosine degradation pathway. Accumulation of toxic metabolites, particularly succinylacetone, causes progressive liver failure, renal tubular dysfunction (Fanconi syndrome), and a high risk of hepatocellular carcinoma. Nitisinone (NTBC/Orfadin), which blocks an upstream step in the pathway, has dramatically improved outcomes and is now standard of care.
Common clinical features
Liver failureHepatocellular carcinoma riskRenal Fanconi syndromeRicketsPorphyria-like crisesElevated alpha-fetoproteinFailure to thrive
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Nitisinone (Nitisinone mdk (previously nitisinone mendelikabs))
Before you apply
Things trial teams commonly ask about for Tyrosinemia Type 1. Not eligibility rules; those are set by each study.
- Nitisinone (NTBC) treatment is near-universal — trials may study dose optimization, gene therapy, or nitisinone alternatives
- Alpha-fetoprotein (AFP) level is a critical biomarker and tumor surveillance marker required at baseline
- Succinylacetone in urine or blood is the diagnostic gold standard and an eligibility confirmation marker
- Liver transplantation cures the hepatic phenotype — transplanted patients are typically ineligible for hepatic gene therapy 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).