XLA is a rare genetic primary immunodeficiency caused by a mutation in a gene named BTK. This genetic mutation leads to a failure of B-cell maturation and disrupts the ability of the patients to produce antibodies. Without treatment, XLA patients would suffer from recurrent infections that will eventually lead to death.
Current therapy consists of life-long administration of pooled human antibody replacement therapy and targeted antimicrobial agents. This treatment is insufficient, and even with treatment, XLA patients have a reduced lifespan and suffer frequent and serious health complications.
BTK-001 is a lentiviral vector-based gene therapy designed to re-engineer XLA patient’s own stem cells by delivering the BTK gene directly to stem cells. Upon stem-cell reprograming, patients regain the ability to develop B-cells and produce antibodies, essentially being cured from the disease after a single treatment.
BTK-001 treatment restores the capacity of mice with XLA to produce antibodies