Audentes is a biotechnology company committed to the development and commercialization of innovative new treatments for patients with serious, rare diseases through the application of gene therapy technology. We believe gene therapy technology has tremendous potential as a treatment approach for many genetic diseases.
What is gene therapy?
Gene therapy is a form of treatment involving the administration of genetic material to patients for the purpose of providing a clinical benefit. It is designed to restore the presence of normal proteins to treat a patient’s disease. Gene therapy works by introducing a functional copy of a gene into the cells that contain the defective version of that gene, allowing the cells to produce the normal protein. Gene therapy products are composed of “vectors,” which are typically viruses that have been engineered to deliver a therapeutic gene to a patient’s cells. Gene therapy vectors direct a patient’s cells to make a new protein that substitutes for a defective protein in the patient. Once the cells are able to produce the correct protein, gene therapy may ultimately lead to improvement in the patient’s symptoms.
What is adeno-associated virus?
Adeno-associated virus (AAV) is one of the most frequently used viral vectors for gene therapy. A small virus that is common in humans, AAV is not known to cause disease. When engineered as a vector for gene therapy, AAV has a known clinical track record, is nonpathogenic and is already approved for use in one product. It is also currently being investigated in multiple clinical trials. Given the promise of engineered AAV vectors for one time administration of gene therapy, and their ability to harness the cell’s own systems to encourage normal protein production, Audentes is exploring the use of adeno-associated virus to address diseases caused by a single gene modification (also known as monogenic diseases) such as X-Linked Myotubular Myopathy (XLMTM), Crigler-Najjar Syndrome (CN), CASQ2-related Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) and Pompe disease.
We believe gene therapy technology has tremendous potential as a treatment approach for many genetic diseases. We currently have four programs in development:
- AT132 for the treatment of X-Linked Myotubular Myopathy (XLMTM). The goal of gene therapy for XLMTM is long-term expression of myotubularin after administration of a vector carrying the MTM1 gene. Increased levels of myotubularin are expected to produce improvement in symptoms related to the disease.
- AT342 for the treatment of Crigler-Najjar Syndrome (CN). The goal of gene therapy for CN is the restoration and maintenance of normal levels of serum bilirubin.
- AT307 for the treatment of CASQ2-related Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). The goal of adeno-associated virus-CASQ2 gene therapy for CPVT is long-term expression of calsequestrin 2 in cardiac muscle cells. By restoring CASQ2 protein levels, the heart is able to maintain a normal heartbeat rhythm.
- AT982 for the treatment of Pompe disease. The goal of gene therapy for Pompe disease is long-term expression of acid alpha-glucosidase after administration of a vector carrying the acid alpha-glucosidase gene. Increased levels of acid alpha-glucosidase are expected to produce improvement in symptoms related to the disease.