NCT06895746

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 adaptation or silent period, 3) "failure to thrive and dyslipidemia" form of CD (FTTDCD), and 4) citrullinemia type II (CTLN2), with the latter representing the final and most severe form of the condition. There is currently no cure for CD and patients manage their symptoms with lifelong dietary intervention and regular checkups with their physicians. A major hurdle in developing effective treatments for CD is the lack of effective biomarkers that track well with disease severity or measure the effectiveness of therapeutics. The present study aims to identify robust circulating biomarkers of CD through analysis of blood samples from CD patients.

Trial Health

82
On Track

Trial Health Score

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

Enrollment
100

participants targeted

Target at P50-P75 for all trials

Timeline
7mo left

Started Apr 2023

Typical duration for all trials

Geographic Reach
5 countries

23 active sites

Status
active not recruiting

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

Study Progress85%
Apr 2023Dec 2026

Study Start

First participant enrolled

April 1, 2023

Completed
2 years until next milestone

First Submitted

Initial submission to the registry

March 19, 2025

Completed
7 days until next milestone

First Posted

Study publicly available on registry

March 26, 2025

Completed
1.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2026

Expected
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2026

Last Updated

January 6, 2026

Status Verified

January 1, 2026

Enrollment Period

3.2 years

First QC Date

March 19, 2025

Last Update Submit

January 5, 2026

Conditions

Citrin Deficiency

Keywords

citrin deficiencymulti-omicsbiomarker identification

Outcome Measures

Primary Outcomes (1)

  • identification of biomarkers

    The primary endpoint is the identification of biomarkers from CD patient-derived blood samples that are expressed at levels significantly different from matched controls.

    three to five years from enrollment

Secondary Outcomes (1)

  • biochemical profiles

    three to five years from recruitment

Study Arms (2)

CD patient

patients with citrin deficiency (mutation in SLC25A13 gene)

healthy control

matched controls

Eligibility Criteria

Age0 Years - 100 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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 mitochondrial transporter, citrin.

You may qualify if:

  • confirmed diagnosis of citrin deficiency

You may not qualify if:

  • any metabolic disease

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (23)

Mount Sinai Hospital

New York, New York, 10029, United States

Location

Kurume University

Kurume-shi, Fukuoka, 830-0011, Japan

Location

Saitama Medical University

Saitama, Iruma, 350-0451, Japan

Location

Saiseikai Yokohama City Eastern Hospital

Yokohama, Kanagawa, 230-0012, Japan

Location

Jikei University Hospital

Tokyo, Minato City, 105-0003, Japan

Location

Tohoku University

Sendai, Miyagi, 980-8577, Japan

Location

Shinshu University Hospital

Matsumoto, Nagano, 390-0802, Japan

Location

National Hospital Organisation Hokkaido Medical Center

Hokkaido, Sapporo, 063-0005, Japan

Location

Osaka Metropolitan University

Osaka, Umeda, 1 Chome-2-2-600, Japan

Location

Chiba Children's Hospital

Chiba, 266-0007, Japan

Location

Kumamoto University Hospital

Kumamoto, 860-8556, Japan

Location

Yamagata University School of Medicine

Yamagata, 990-9585, Japan

Location

Pusan National University Yangsan Hospital

Yangsang, Gyeongsang, 50612, South Korea

Location

Taiwan University Hospital

Taipei, 100, Taiwan

Location

Taipei Veterans General Hospital

Taipei, 112, Taiwan

Location

Central Manchester University Hospital NHS Foundation Trust

Manchester, Lancashire, M13 9WL, United Kingdom

Location

University Hospitals Birmingham NHS Foundation Trust

Birmingham, B15 2TH, United Kingdom

Location

Birmingham Women's and Children's Hospital NHF Foundation Trust

Birmingham, B4 6NH, United Kingdom

Location

Bristol Royal Hospital for Children

Bristol, BS2 8BJ, United Kingdom

Location

University College London Hospital

London, NW1 2BU, United Kingdom

Location

Great Ormond Street Hospital for Children NHS foundation trust

London, WC1N 3JH, United Kingdom

Location

Salford Royal NHS Foundation Trust

Salford, M6 8HD, United Kingdom

Location

Sheffield Children's NHS Foundation Trust

Sheffield, S10 2TH, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Plasma

MeSH Terms

Conditions

Adult-onset citrullinemia type 2

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Head of Metabolic Laboratory

Study Record Dates

First Submitted

March 19, 2025

First Posted

March 26, 2025

Study Start

April 1, 2023

Primary Completion (Estimated)

June 1, 2026

Study Completion (Estimated)

December 1, 2026

Last Updated

January 6, 2026

Record last verified: 2026-01

Data Sharing

IPD Sharing
Will share

Locations

TW(2)JP(11)US(1)KR(1)GB(8)