Crigler Najjar Syndrome, Type 1

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

UGT1A1, UGT1A8, UGT1A4, UGT1A10, UGT1A7, UGT1A6, UGT1A5, UGT1A3, UGT1A9, SLC35A2, UGT1A, UGGT1, F7, UROD, TTC4, HNF1A, ALB

Drugs

Adeno -associated viral vector serotype 8 containing the human functional version of UGT1A1 gene, Adeno-associated viral vector serotype 8 containing the human UGT1A1 gene, Heterologous human adult liver derived stem cells ( Promethera HepaStem )

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Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. Crigler Najjar syndrome, type 1 is caused by mutations in the UGT1A1 gene. The condition is inherited in an autosomal recessive manner. Treatment relies on regular phototherapy throughout life. Blood transfusions and calcium compounds have also been used. Liver transplantation may be considered in some individuals.