What is AAV gene therapy?

AAV stands for adeno-associated virus. It's a small virus that infects humans but isn't known to cause disease. Researchers like it as a gene delivery vehicle, or vector, because it can carry a gene into many types of cells, including cells that don't divide, such as neurons.

To make an AAV gene therapy, scientists strip out the virus's own genetic material and replace it with a healthy copy of the human gene that a patient is missing. The finished product is manufactured in specialized facilities under strict quality controls, then given to the patient, often as a single infusion or injection.

AAV-based gene therapies have been approved in the United States for other rare genetic conditions, such as spinal muscular atrophy and an inherited form of vision loss. Every new AAV therapy still has to be tested for safety and effectiveness, starting with small first-in-human trials.

The therapy planned for Drake and Vivian is described by their family as a one-dose AAV gene replacement therapy intended to address the root cause of NKH. Learn why it's designed as a single dose, or help fund the final stretch.

Sources: U.S. FDA: What is Gene Therapy? · MedlinePlus Genetics: What is gene therapy?