Hereditary Tyrosinemia, Type I
Conditions
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.
Interventions
None listed
Sponsors
Society of Friends of Liver Patients in the Arab World (SLPAW)
Yassin Abdelghaffar Charity Center for Liver Disease and Research
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
Egypt
Contacts
Primary ContactMamdouh A. Ahmed
Outcome results
None listed