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Novel treatment strategies for liver disease due to α1-antitrypsin deficiency

Nicholas Maurice1, David H Perlmutter

  • 1Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

Clinical and Translational Science
|June 13, 2012
PubMed

Insights

Alpha1-antitrypsin (AT) deficiency causes liver disease in children and adults. New drugs enhance the breakdown of mutant AT, offering a promising treatment strategy for clinical trials.

Area of Science:

  • Hepatology
  • Genetics
  • Pharmacology

Background:

  • Alpha1-antitrypsin (AT) deficiency is a leading genetic cause of pediatric liver disease.
  • It also contributes to adult hepatic fibrosis, cirrhosis, and hepatocellular carcinoma.
  • Understanding mutant AT accumulation in hepatocytes is key to developing therapies.

Purpose of the Study:

  • To review novel chemoprophylaxis strategies for AT deficiency liver disease.
  • To discuss advances enabling future treatment options.

Main Methods:

  • Review of recent scientific advances in understanding AT deficiency.
  • Identification of drug classes enhancing intracellular degradation of mutant AT.

Main Results:

  • A novel chemoprophylaxis strategy targets mutant AT intracellular degradation.
  • Several drugs in this class have established safety profiles for human use.
  • This strategy is ready for immediate clinical trials.

Conclusions:

  • Targeting mutant AT degradation offers a viable therapeutic approach.
  • Further research supports additional future treatment strategies for AT deficiency liver disease.

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