Status:
ACTIVE_NOT_RECRUITING
Multi-omics Study in Citrin Deficiency
Lead Sponsor:
Johannes Haeberle
Collaborating Sponsors:
Citrin Foundation
Bristol Royal Hospital for Children
Conditions:
Citrin Deficiency
Eligibility:
All Genders
Up to 100 years
Brief Summary
Citrin deficiency (CD) is an underdiagnosed and understudied condition characterized by several distinct phenotypes: 1) neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), 2) the ad...
Detailed Description
Citrin deficiency (CD) is an inherited autosomal recessive metabolic condition that is also a secondary urea cycle disorder caused by mutations in the SLC25A13 gene, which encodes for the mitochondria...
Eligibility Criteria
Inclusion
- Inclusion Criteria for patient group:
- confirmed diagnosis of citrin deficiency
- Exclusion Criteria for control group:
- any metabolic disease
Exclusion
Key Trial Info
Start Date :
April 1 2023
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2026
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT06895746
Start Date
April 1 2023
End Date
December 1 2026
Last Update
January 6 2026
Active Locations (23)
Enter a location and click search to find clinical trials sorted by distance.
1
Mount Sinai Hospital
New York, New York, United States, 10029
2
Kurume University
Kurume-shi, Fukuoka, Japan, 830-0011
3
Saitama Medical University
Saitama, Iruma, Japan, 350-0451
4
Saiseikai Yokohama City Eastern Hospital
Yokohama, Kanagawa, Japan, 230-0012