NCT03446586

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
50

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Apr 2019

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 4, 2018

Completed
23 days until next milestone

First Posted

Study publicly available on registry

February 27, 2018

Completed
1.1 years until next milestone

Study Start

First participant enrolled

April 5, 2019

Completed
4.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 5, 2023

Completed
2 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2023

Completed
Last Updated

January 10, 2019

Status Verified

January 1, 2019

Enrollment Period

4.6 years

First QC Date

February 4, 2018

Last Update Submit

January 9, 2019

Conditions

Hereditary Tyrosinemia, Type I

Outcome Measures

Primary Outcomes (1)

  • Create 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.

    5 Years

Eligibility Criteria

AgeUp to 18 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

Patients with tyrosinemia type I seen by one of the participating sites.

You may qualify if:

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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Professor Yassin Abdel Ghaffar Charity Center for Liver Disease and Research

Madīnat an Naşr, Cairo Governorate, Egypt

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Fixed liver block samples \& frozen whole blood.

MeSH Terms

Conditions

Tyrosinemias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Tawhida Y Abdelghaffar, MD

    Yassin Abdelghaffar Charity Center for Liver Disease and Research

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Mamdouh A. Ahmed

CONTACT

02-01221707770dr.yassinabdelghaffar@gmail.com

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Target Duration
5 Years
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor

Study Record Dates

First Submitted

February 4, 2018

First Posted

February 27, 2018

Study Start

April 5, 2019

Primary Completion

November 5, 2023

Study Completion

December 31, 2023

Last Updated

January 10, 2019

Record last verified: 2019-01

Data Sharing

IPD Sharing
Will not share

Locations

EG(1)