What is the role of gene therapy in the treatment of acute intermittent porphyria (AIP)?

Updated: Jul 08, 2020
  • Author: Thomas G DeLoughery, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Gene therapy for AIP is currently under investigation.  A phase I trial using intravenous delivery of normal PBGD genes to hepatocytes using an adeno-associated virus vector confirmed the safety and tolerability of this approach, but demonstrated the need for higher doses and/or more efficient vectors in order to achieve full clinical benefit. [17]  In an animal model, improved vector efficiency has been accomplished by insertion into the promoter of a short enhancer element that can induce transgene expression during exposure to endogenous and exogenous stimuli that can trigger attacks. [18]


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