Gene therapy aims to treat genetic conditions by enabling the body to produce a critical protein that is missing, typically with a one-time infusion. Gene therapy does this by using a delivery vehicle to provide a functioning copy of a gene into cells that are missing or do not have a fully functioning copy of that gene.
People with CAH due to 21-hydroxylase deficiency have changes (mutations) in the CYP21A2 gene. The CYP21A2 gene is important for the production of 21-hydroxylase, a critical enzyme necessary for proper function of the adrenal glands. Mutations in CYP21A2 cause 21-hydroxylase to either not be produced or not be fully functional.
Adrenas’ investigational gene therapy, BBP-631, uses a common virus called adeno-associated virus (AAV) as the delivery vehicle for the CYP21A2 gene. You can think of AAV as a “delivery truck,” with the cargo being a functional gene. AAVs used in gene therapy are not associated with any known diseases in people, which is why they are used in gene therapy as the transport vehicles to deliver functioning genes into the body.