Study of NTBC for Tyrosinemia I

This study is currently recruiting participants.

Verified by FDA Office of Orphan Products Development, April 2000

First Received: October 18, 1999 Last Updated: June 23, 2005 History of Changes

Sponsors and Collaborators:	FDA Office of Orphan Products Development University of Washington
Information provided by:	FDA Office of Orphan Products Development
ClinicalTrials.gov Identifier:	NCT00004443

Purpose

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.

Condition	Intervention
Tyrosinemia I	Drug: NTBC

Genetics Home Reference related topics: argininosuccinic aciduria citrullinemia N-acetylglutamate synthase deficiency ornithine translocase deficiency succinic semialdehyde dehydrogenase deficiency tyrosinemia

U.S. FDA Resources

Study Type:	Interventional
Study Design:	Treatment, Safety/Efficacy Study

Further study details as provided by FDA Office of Orphan Products Development:

Estimated Enrollment:	20
Study Start Date:	October 1998

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.

Eligibility

Ages Eligible for Study:	up to 17 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004443

Locations

United States, Oregon
Oregon Health Sciences University	Recruiting
Portland, Oregon, United States, 97201-3098
Contact: Markus Grompe 503-494-6888
United States, Washington
University of Washington School of Medicine	Recruiting
Seattle, Washington, United States, 98195
Contact: C. Ronald Scott 206-543-3370
Canada, Quebec
Hopital Sainte Justine	Recruiting
Montreal, Quebec, Canada, H3T 1C5
Contact: Grant Mitchell 514-345-4931

Sponsors and Collaborators

FDA Office of Orphan Products Development

University of Washington

Investigators

Study Chair:

C. Ronald Scott

University of Washington

More Information

No publications provided

Study ID Numbers:	199/13443, UWASH-FDR001445
Study First Received:	October 18, 1999
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00004443 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by FDA Office of Orphan Products Development:

inborn errors of metabolism
rare disease
tyrosinemia I

Study placed in the following topic categories:

Tyrosinemias
Metabolic Diseases
Amino Acid Metabolism, Inborn Errors
Hawkinsinuria
Tyrosinemia
Rare Diseases
Central Nervous System Diseases
Brain Diseases

Metabolism, Inborn Errors
Oculocutaneous Tyrosinemia
Genetic Diseases, Inborn
Inborn Amino Acid Metabolism Disorder
Tyrosine Transaminase Deficiency
Brain Diseases, Metabolic, Inborn
Metabolic Disorder
Brain Diseases, Metabolic

Additional relevant MeSH terms:

Metabolism, Inborn Errors
Tyrosinemias
Metabolic Diseases
Genetic Diseases, Inborn
Amino Acid Metabolism, Inborn Errors

Nervous System Diseases
Central Nervous System Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases
Brain Diseases, Metabolic

ClinicalTrials.gov processed this record on May 07, 2009