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

Brief Title

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

Official Title

Hereditary Hepatorenal Tyrosinemia Natural History (Multicenter Clinical Study): Registry for Patients With Tyrosinemia Type I in Egypt and the Arab World

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 Type

Observational [Patient Registry]


Primary Outcome

Create a registry for tyrosinemia type I.


Condition

Hereditary Tyrosinemia, Type I



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

50

Start Date

April 5, 2019

Completion Date

December 31, 2023

Primary Completion Date

November 5, 2023

Eligibility Criteria

        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.
      

Gender

All

Ages

N/A - 18 Years

Accepts Healthy Volunteers

No

Contacts

Tawhida Y Abdelghaffar, MD, 02-01221707770, [email protected]

Location Countries

Egypt

Location Countries

Egypt

Administrative Informations


NCT ID

NCT03446586

Organization ID

Tyrosinemia Registry E&AW 1


Responsible Party

Principal Investigator

Study Sponsor

Yassin Abdelghaffar Charity Center for Liver Disease and Research

Collaborators

 Society of Friends of Liver Patients in the Arab World (SLPAW)

Study Sponsor

Tawhida Y Abdelghaffar, MD, Principal Investigator, Yassin Abdelghaffar Charity Center for Liver Disease and Research


Verification Date

January 2019