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.
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 Type
OBSERVATIONAL
Enrollment
50
Professor Yassin Abdel Ghaffar Charity Center for Liver Disease and Research
Madīnat an Naşr, Cairo Governorate, Egypt
RECRUITINGCreate a registry for tyrosinemia type I.
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.
Time frame: 5 Years
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