Biomarker for Gilbert Disease (BioGilbert)

NCT02712138 | Withdrawn

• 1 other identifier: BGI 06-2018
• Study Type: observational
• Target: N/A
• Locations: 3 countries
• Sites: 4

Brief Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Gilbert disease from blood

Conditions

Meulengracht Syndrome; Hyperbilirubinemia; Unconjugated Benign Bilirubinemia

Keywords

Gilbert Syndrome; Biomarker

Outcome Measures

Primary Outcomes (1)

• Sequencing of the Gilbert disease related gene

  Next-Generation Sequencing (NGS) of the UGT1A1 gene will be performed. The mutation will be confirmed by Sanger sequencing.

  4 weeks

Secondary Outcomes (1)

• The Gilbert disease specific biomarker candidates finding

  24 months

Eligibility Criteria

• Age: 2 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with Gilbert disease or high-grade suspicion for Gilbert disease

You may qualify if:

• Informed consent will be obtained from the patient or the parents before any study related procedures.
• Patients of both genders older than 2 months
• The patient has a diagnosis of Gilbert disease or a high-grade suspicion for Gilbert disease
• \- Positive family anamnesis for Gilbert disease
• \- Hyperbilirubinemia
• \- Abdominal pain
• \- Irritable bowel syndrome
• \- Familial nonhemolytic jaundice

You may not qualify if:

• No Informed consent from the patient or the parents before any study related procedures.
• Patients of both gender younger than 2 months
• No diagnosis of Gilbert disease or no valid criteria for profound suspicion of Gilbert disease

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead

Study Sites (4)

Children Hospital, Faculty of Medicine, Cairo University

Cairo, 11511, Egypt

Location

Amrita Institute of Medical Sciences & Research Centre

Kochi, Kerala, 682041, India

Location

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Mumbai, 400705, India

Location

Lady Ridgeway Hospital for Children

Colombo, 00800c, Sri Lanka

Location

Biospecimen

Retention: SAMPLES WITH DNA

Laboratory Blood Test For the development of the new biomarkers using the technique of Mass-spectrometry 7,5 ml EDTA blood and a dry blood spot filter card are taken. To proof the correct Gilbert diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Gilbert disease will be done. The analyses will be done at: Centogene AG Am Strande 7 18055 Rostock Germany

MeSH Terms

Conditions

Gilbert Disease; Hyperbilirubinemia

Condition Hierarchy (Ancestors)

Hyperbilirubinemia, Hereditary; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Peter Bauer, Prof.

  Centogene GmbH

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 14, 2016
• First Posted: March 18, 2016
• Study Start: August 20, 2018
• Primary Completion: February 28, 2021
• Study Completion: February 28, 2021
• Last Updated: February 13, 2023

Record last verified: 2023-02

Data Sharing

• IPD Sharing: Will not share

Locations

SR (1); EG (1); IN (2)