Clinical Trial Details
— Status: Withdrawn
Administrative data
| NCT number |
NCT02712138 |
| Other study ID # |
BGI 06-2018 |
| Secondary ID |
|
| Status |
Withdrawn |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
August 20, 2018 |
| Est. completion date |
February 28, 2021 |
Study information
| Verified date |
February 2023 |
| Source |
CENTOGENE GmbH Rostock |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial Summary
Development of a new MS-based biomarker for the early and sensitive diagnosis of Gilbert
disease from blood
Description:
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). It is inherited as an autosomal recessive trait.
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 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. Some affected individuals have reported
vague, unspecific symptoms including fatigue, weakness and gastrointestinal symptoms such as
nausea, abdominal discomfort, and diarrhea.
Gilbert syndrome is diagnosed more often in males than females. The disorder affects
approximately 3-7 percent of individuals in the general population, and affects individuals
of all races. It is present at birth, but may remain undiagnosed until the late teens or
early twenties.
Gilbert syndrome is caused by mutations to the UGT1A1 gene located on the long arm (q) of
chromosome 2 (2q37). The UGT1A1 gene contains instructions for creating (encoding) a liver
enzyme known as uridine disphosphate-glucuronosyltransferase-1A1 (UGT1A1). This enzyme is
required for the conversion (conjugation) and subsequent excretion of bilirubin from the
body. Individuals with Gilbert syndrome retain approximately one third of the normal UGT1A1
enzyme activity and are able to conjugate enough bilirubin to prevent symptoms from
developing.
Mild jaundice associated with Gilbert syndrome occurs due to reduced amounts of this enzyme,
which results in the accumulation of unconjugated bilirubin in the body. Bilirubin circulates
in the liquid portion of the blood (plasma) bound to a protein called albumin; this is called
unconjugated bilirubin, which does not dissolve in water (water-insoluble). Normally, this
unconjugated bilirubin is taken up by the liver cells and, with the help of the UGT1A1
enzyme, is converted to form water-soluble bilirubin glucuronides (conjugated bilirubin),
which are then excreted in the bile. The bile is stored in the gall bladder and, when called
upon, passes into the common bile duct and then into the upper portion of the small intestine
(duodenum) and aids in digestion. Most bilirubin is eliminated from the body in the feces.
New methods, like mass-spectrometry give a good chance to characterize specific metabolic
alterations in the blood (plasma) of affected patients that allow diagnosing in the future
the disease earlier, with a higher sensitivity and specificity.
Therefore it is the goal of the study to identify and validate a new biochemical marker from
the plasma of the affected patients helping to benefit other patients by an early diagnose
and thereby with an earlier treatment.
