Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I

This study has been completed.
University of Michigan
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: July 2000


Assess whether 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) at 0.6 mg/kg per day prevents liver failure in at least 1 patient with tyrosinemia type I.

Condition Intervention Phase
Tyrosinemia, Type I
Drug: NTBC
Phase 2

Study Type: Interventional
Study Design: Primary Purpose: Treatment

Resource links provided by NLM:

Further study details as provided by Office of Rare Diseases (ORD):

Study Start Date: November 1994
Detailed Description:

PROTOCOL OUTLINE: Only 2 patients with tyrosinemia type I are known to this research team; others will be treated if found and if clinical conditions permit.

The enzyme inhibitor 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) is administered orally, in 2 divided doses daily with meals.

Patients will be followed closely for side effects attributable to NTBC.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No


Tyrosinemia type I No cirrhosis No hepatocellular carcinoma

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Please refer to this study by its identifier: NCT00004333

Sponsors and Collaborators
National Center for Research Resources (NCRR)
University of Michigan
Study Chair: Jess G. Thoene University of Michigan
  More Information Identifier: NCT00004333     History of Changes
Other Study ID Numbers: 199/11892  UMMC-1319 
Study First Received: October 18, 1999
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
inborn errors of metabolism
rare disease
tyrosinemia I

Additional relevant MeSH terms:
Amino Acid Metabolism, Inborn Errors
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases processed this record on May 26, 2016