Tyrosinemia I
Conditions
Keywords
inborn errors of metabolism, rare disease, tyrosinemia I
Brief summary
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.
Detailed 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
Interventions
DRUGNTBC
Sponsors
University of Washington
Study design
Primary purpose
TREATMENT
Eligibility
Sex/Gender
ALL
Age
No minimum to 17 Years
Healthy volunteers
No
Inclusion 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
Countries
Canada, United States
Outcome results
None listed