What is the role of gene therapy in the treatment of Crigler-Najjar syndrome type 1?

Updated: May 21, 2019
  • Author: Hisham Nazer, MBBCh, FRCP, DTM&H; Chief Editor: BS Anand, MD  more...
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Answer

Gene therapy offers the greatest potential for cure for patients with Crigler-Najjar syndrome. Successful cloning of the gene responsible for bilirubin glucuronosyltransferase activity offers the hope of future gene therapy to correct this deficiency. [67]

Clinically significant improvement can be achieved even with partial enzyme replacement. About 5% of normal UGT 1A1 can significantly lower the plasma bilirubin concentration and decrease the need for phototherapy.


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