Study of NTBC for Tyrosinemia I

University of Washington

Status: Completed

Conditions: Tyrosinemia I

Treatments: Drug: NTBC

Study type: Interventional

Funder types: Other

Identifiers

NCT00004443

UWASH-FDR001445

199/13443

Details and patient eligibility

About

OBJECTIVES: I. Assess the safety and efficacy of NTBC in children with tyrosinemia I.

II. Evaluate the effects of NTBC on survival, rate of neurologic crises, improvement in renal tubular damage, reduction in the need for liver transplantation, and reduction in the development of hepatocarcinoma in these patients.

Full description

PROTOCOL OUTLINE: Patients are stratified according to age at onset of symptoms (0-2 months vs 2-6 months vs greater than 6 months).

Patients receive oral NTBC twice a day. Treatment continues in the absence of unacceptable toxicity.

Patients are followed once a month for 6 months, then every 3 months thereafter.

Completion date provided represents the completion date of the grant per OOPD records

Enrollment: 20 estimated patients

Sex: All

Ages: Under 17 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

• Confirmed diagnosis of tyrosinemia Detected through newborn screening before the onset of symptoms OR Diagnosed on the basis of symptoms (liver disease, neurological crises, growth failure) and succinylacetone in urine or blood and/or fumarylacetoacetate dehydratase deficiency in cultured fibroblasts or liver biopsy