The U.S. Food and Drug Administration (FDA) has approved etuvetidigene autotemcel, a gene therapy for Wiskott-Aldrich syndrome, under the brand name Waskyra. This marks the first time a gene therapy has been authorized for this rare genetic disorder and is also the first FDA-approved genetic treatment from a non-profit sponsor.
Waskyra was developed by Fondazione Telethon ETS, an organization based in Italy that focuses on research and development of therapies for rare diseases. The approval allows Waskyra to be used in patients aged six months and older who have mutations in the WAS gene and are eligible for hematopoietic stem cell transplantation but lack a suitable matched donor.
FDA Commissioner Marty Makary stated, “Waskyra’s approval [is] a ‘transformative milestone’ for patients living with Wiskott-Aldrich syndrome.”
Wiskott-Aldrich syndrome affects between one and 10 males per million worldwide. It results from mutations in the WAS gene, which normally helps produce a protein necessary for white blood cell function and platelet maturation. Those affected often experience frequent bleeding episodes, increased risk of infections, autoimmune disorders, and cancer. The condition is even less common among females.
Waskyra uses a patient’s own hematopoietic stem cells, which are modified outside the body to include functional copies of the WAS gene before being reinfused into the patient. This process aims to restore normal production of the WAS protein.
The FDA based its decision on data from two open-label studies involving 27 patients with severe disease. Results indicated that severe infections decreased by 93% from six to 18 months after treatment compared to the year prior to receiving Waskyra. Additionally, there was a 60% reduction in moderate and severe bleeding events among treated patients.
According to the agency, these outcomes demonstrated Waskyra’s “substantial and sustained clinical benefit,” along with “significant reductions in the primary disease manifestations.”
Common side effects reported included rashes, respiratory infection, and catheter-related infections.
