Hereditary Hepatorenal Tyrosinemia Natural History in Egypt and the Arab World (Multicenter Clinical Study)

Yassin Abdelghaffar Charity Center for Liver Disease and Research

Status: Unknown

Conditions: Hereditary Tyrosinemia, Type I

Study type: Observational

Funder types: Other

Identifiers

NCT03446586

Tyrosinemia Registry E&AW 1

Details and patient eligibility

About

The purpose of the registry/repository is to understand the natural history of tyrosinemia in our region and to provide a mechanism to store data and specimens to support the conduct of future research about hereditary tyrosinemia among the Arabs.

Full description

The purpose of this study is to create an electronic registry of phenotypic, laboratory information, treatment and outcomes options for tyrosinemia type I. The registry is longitudinal in nature including retrospective clinical data from birth to the most recent encounter with all data entered in chronological fashion. The goals of this registry are the better understanding of the natural history and treatment outcomes of these patients and to determine/evaluate biochemical and clinical parameters for monitoring and prognosis of tyrosinemia type I.

Enrollment: 50 estimated patients

Sex: All

Ages: Under 18 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Biochemical or molecular diagnosis of Tyrosinemia Type I.
2. Examined/followed by one of the participating sites.
3. Parental/guardian permission (informed consent) for participation.

Exclusion criteria

1. Diagnosis of tyrosinemia has been excluded.
2. Not examined/followed by one of the participating sites.
3. Unwilling to provide informed consent for participation.