Pillar 1 of the FAST Roadmap to a Cure 2.0 consists of therapeutic programs that focus on “fixing mom’s gene” by replacing the missing or non-functional UBE3A gene in neurons of individuals living with Angelman syndrome.
Currently, we have 3 programs in the pipeline under Pillar 1:
- Adeno-Associated Virus Gene Therapy (AAV-GT): Done invivo; deliver a healthy copy of the missing or non-functional UBE3A gene using a safe viral vector called an Adeno-Associated Virus, directly into brain cells, called neurons. The AAV is the car that is driving; the UBE3A gene is its cargo.
- Hematopoietic Stem Cell Gene Therapy using a Lentivirus (HSC-GT): Done exvivo; remove a small portion of patients’ own blood cells, add a modified version of the UBE3A gene into those cells, then inject it back into the patient where it will distribute functional UBE3A throughout the body and brain. Think of this like a school bus driving around town dropping off UBE3A at every corner.
- Enzyme Replacement Therapy (ERT): Replace the missing UBE3A protein in the brain. Administered through a small reservoir under the scalp where the therapeutic is released slowly into the fluid bathing the brain.