Clinical Trial: Biomarker for Patients With Gilbert Disease

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Biomarker for Patients With Gilbert Disease - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Brief Summary: Development of a new mass spectrometry based biomarker for the early and sensitive diagnosis of a Gilbert disease from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.

Detailed Summary:

Gilbert syndrome is a mild genetic liver disorder in which the body cannot properly process bilirubin, a yellowish waste product that is formed when old or worn out red blood cells are broken down (hemolysis). Individuals with Gilbert syndrome have elevated levels of bilirubin (hyperbilirubinemia), because they have a reduced level of a specific liver enzyme required for elimination of bilirubin. Most affected individuals have no symptoms (asymptomatic) or may only exhibit mild yellowing of the skin, mucous membranes, and whites of the eyes (jaundice). Jaundice may not be apparent until adolescence. Bilirubin levels may increase following stress, exertion, dehydration alcohol consumption, fasting, and/or infection. In some individuals, jaundice may only be apparent when triggered by one of these conditions. Gilbert syndrome is inherited as an autosomal recessive trait.

Although Gilbert syndrome may become apparent shortly after birth, it may not be recognized for many years. Episodes of mild jaundice may appear in young adults and is more common in males than females. Frequently, episodes of jaundice are overlooked. Gilbert syndrome is associated with fluctuating levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin levels may increase with stress, strain, dehydration, fasting, infection or exposure to cold. In many individuals, jaundice is only evident when one of these triggers raises the bilirubin levels.

Some affected individuals have reported vague, unspecific symptoms including fatigue, weakness and gastrointestinal symptoms such as nausea, abdominal discomfort, and diarrhea.

Gilbert syndrome is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received f
Sponsor: University of Rostock

Current Primary Outcome: Development of a new MS-based biomarker for the early diagnosis of Gilbert disease from plasma [ Time Frame: 36 months ]

Original Primary Outcome: Same as current

Current Secondary Outcome: Number of correctly identified patients with Gilbert disease [ Time Frame: 36 months ]

Original Secondary Outcome: Same as current

Information By: University of Rostock

Dates:
Date Received: March 14, 2016
Date Started: March 2016
Date Completion: April 2019
Last Updated: September 19, 2016
Last Verified: September 2016