Identifying biomarkers in Citrin Deficiency
Multi-omics Study in Citrin Deficiency for Characterization of Disease-specific Metabolites and Biomarker Identification
This study is trying to find specific markers in the blood of people with Citrin Deficiency to better understand the disease and help improve treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 0 Years to 100 Years |
| Sex | All |
| Sponsor | University Children's Hospital, Zurich Academic / other |
| Locations | 23 sites (New York, New York and 22 other locations) |
| Trial ID | NCT06895746 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on Citrin Deficiency (CD), a genetic metabolic disorder characterized by various clinical phenotypes. The research aims to identify circulating biomarkers that correlate with disease severity by analyzing blood samples from patients diagnosed with CD. Given the complexity of the condition and the absence of effective treatments, the study seeks to enhance understanding of CD and potentially guide future therapeutic strategies. The findings could lead to improved monitoring and management of the disease.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with a confirmed diagnosis of Citrin Deficiency.
Not a fit: Patients with other metabolic diseases will not benefit from this study as they are excluded from participation.
Why it matters
Potential benefit: If successful, this study could provide critical biomarkers that help in the diagnosis and management of Citrin Deficiency, leading to better patient outcomes.
How similar studies have performed: While there is limited research specifically on Citrin Deficiency, similar multi-omics approaches have shown promise in identifying biomarkers for other metabolic disorders.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria for patient group: * confirmed diagnosis of citrin deficiency Exclusion Criteria for control group: * any metabolic disease
Where this trial is running
New York, New York and 22 other locations
- Mount Sinai Hospital — New York, New York, United States (Recruiting)
- Kurume University — Kurume-shi, Fukuoka, Japan (Recruiting)
- Saitama Medical University — Saitama, Iruma, Japan (Recruiting)
- Saiseikai Yokohama City Eastern Hospital — Yokohama, Kanagawa, Japan (Recruiting)
- Jikei University Hospital — Tokyo, Minato City, Japan (Recruiting)
- Tohoku University — Sendai, Miyagi, Japan (Recruiting)
- Shinshu University Hospital — Matsumoto, Nagano, Japan (Recruiting)
- National Hospital Organisation Hokkaido Medical Center — Hokkaido, Sapporo, Japan (Recruiting)
- Osaka Metropolitan University — Osaka, Umeda, Japan (Recruiting)
- Chiba Children's Hospital — Chiba, Japan (Recruiting)
- Kumamoto University Hospital — Kumamoto, Japan (Recruiting)
- Yamagata University School of Medicine — Yamagata City, Japan (Recruiting)
- Pusan National University Yangsan Hospital — Yangsang, Gyeongsang, Korea, Republic of (Recruiting)
- Taiwan University Hospital — Taipei, Taiwan (Recruiting)
- Taipei Veterans General Hospital — Taipei, Taiwan (Recruiting)
- Central Manchester University Hospital NHS Foundation Trust — Manchester, Lancashire, United Kingdom (Recruiting)
- University Hospitals Birmingham NHS Foundation Trust — Birmingham, United Kingdom (Recruiting)
- Birmingham Women's and Children's Hospital NHF Foundation Trust — Birmingham, United Kingdom (Recruiting)
- Bristol Royal Hospital for Children — Bristol, United Kingdom (Recruiting)
- University College London Hospital — London, United Kingdom (Recruiting)
- Great Ormond Street Hospital for Children NHS foundation trust — London, United Kingdom (Recruiting)
- Salford Royal NHS Foundation Trust — Salford, United Kingdom (Recruiting)
- Sheffield Children's NHS Foundation Trust — Sheffield, United Kingdom (Recruiting)
Study contacts
- Study coordinator: Head of Metabolic Laboratory
- Email: Johannes.Haeberle@kispi.uzh.ch
- Phone: +41 044 249 49 49
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.