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

• Conditions: Hereditary Tyrosinemia, Type I

• Registration Number: NCT03446586
• Lead Sponsor: Yassin Abdelghaffar Charity Center for Liver Disease and Research

Brief Summary

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.

Detailed 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.

Study Timeline

• Study First Submitted: 2018-02-04
• Study First Submitted QC: 2018-02-19
• Study First Posted: 2018-02-27
• Status Verified: 2019-01
• Last Update Submitted: 2019-01-09
• Last Update Posted: 2019-01-10
• Study Start: 2019-04-05
• Primary Completion: 2023-11-05
• Study Completion: 2023-12-31

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 50

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Create a registry for tyrosinemia type I.	5 Years	This outcome is a binary 'yes/no' outcome as to whether or not this study can successfully create a repository with the intent to store data and specimens to support the conduct of future research on tyrosinemia type I.

Trial Locations

Locations (1)

Professor Yassin Abdel Ghaffar Charity Center for Liver Disease and Research; 🇪🇬 Nasr City, Cairo, Egypt