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

Overview

OBJECTIVES: 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.

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.

Conditions

Interventions

Eligibility