5.9 per million people in Europe are affected by Acute Intermittent Porphyria (AIP), a rare disease which is caused due to mutations in the porphobilinogen deaminase (pbgd) gene. pbgd gene encodes one of the enzymes involved in the haem biosynthesis pathway. Mutations in this gene leads to deficiency of enzyme which again leads to accumulation of intermediate toxic metabolites in the haem pathway. Symptoms of this disease include severe abdominal pain, mental symptoms and peripheral neuropathy. Current gene therapy targets on restoring the defect in haem biosynthesis and avoiding accumulation of toxic metabolites in the haem pathway with the help of AMT-021, an adeno-associate virus 5 (AAV5)-based gene therapy product, which delivers and expresses PBGD in the liver cells of AIP affected patients.
AMT-021 is under clinical trials. This gene Therapy represents a successful example of an academic-industrial partnership. It was the first potentially curative treatment tested in AIP patients.