FDA Approves First Gene Therapy for Wiskott-Aldrich Syndrome
核心洞察
The FDA has approved etuvetidigene autotemcel (搜索) (Waskyra (搜索)), the first cell-based gene therapy for treating Wiskott-Aldrich syndrome (搜索) in patients six months and older.
Clinical trials demonstrated a 93% reduction in severe infections and 60% decrease in moderate to severe bleeding events following treatment.
Waskyra (搜索) represents the first approved genetic treatment from a non-profit sponsor, developed by Italy-based Fondazione Telethon ETS.
The US Food and Drug Administration has approved etuvetidigene autotemcel (搜索) (Waskyra (搜索)), marking a historic milestone as the first cell-based gene therapy for treating Wiskott-Aldrich syndrome (搜索) (WAS). The approval, announced December 9, 2025, provides a transformative treatment option for patients with this rare, life-threatening genetic disorder.
Treatment Indication and Patient Population
Waskyra (搜索) is indicated for pediatric patients ≥ 6 months of age and adults with WAS who have a mutation in the WAS gene (搜索) and for whom hematopoietic stem cell transplantation (HSCT) is appropriate but no suitable human leukocyte antigen (HLA)-matched related stem cell donor is available.
"Today's approval is a transformative milestone for patients with Wiskott-Aldrich syndrome (搜索), offering the first FDA-approved gene therapy that uses the patient's own genetically corrected hematopoietic stem cells to treat the disease," said Vinay Prasad, MD, MPH, Chief Medical and Scientific Officer and Director of the FDA's Center for Biologics Evaluation and Research.
Understanding Wiskott-Aldrich Syndrome
WAS is a rare, X-linked, life-threatening inborn error of immunity and platelet disorder caused by WAS protein (搜索) (WASP (搜索))-encoding gene mutations. The condition affects between one and 10 males per million globally and is characterized by thrombocytopenia (搜索), bleeding events, recurrent and severe infections, eczema (搜索), and increased risk of immune dysregulation and malignancy.
Under healthy circumstances, the WAS gene (搜索) produces a protein that facilitates white blood cell function and platelet maturation. Mutations in this gene result in patients suffering from frequent and prolonged bleeding episodes, heightened risk of infections, and greater likelihood of developing autoimmune disorders and cancer.
Mechanism of Action
Etuvetidigene autotemcel (搜索) consists of the patient's own hematopoietic stem cells (HSCs), which have been genetically modified to include functional copies of the WAS gene (搜索). The cells are altered outside the body to carry functional copies of the WAS gene before being reinfused into the patient. Following reduced-intensity conditioning, the gene-corrected cells are infused intravenously to restore blood cell production and functional WAS protein (搜索) expression in affected cells, addressing the underlying cause of the disease.
Clinical Trial Results
The therapy's safety and effectiveness was assessed in two open-label, single-arm, multinational clinical studies and an expanded access program totaling 27 patients with severe WAS. The results demonstrated substantial and sustained clinical benefit for patients with severe WAS, with significant reductions in the primary disease manifestations that drive morbidity and mortality.
The rate of severe infections decreased by 93% in the 6 to 18 months post-treatment period compared to the rate 12 months before treatment. Similarly, moderate and severe bleeding events were reduced by 60% in the first 12 months post-treatment compared to the year prior to treatment. Most patients did not report moderate to severe bleeding after 4 years post treatment.
Safety Profile
The most common side effects associated with treatment include rash, respiratory tract infection, febrile neutropenia, catheter related infection, vomiting, diarrhea, liver injury, and petechiae.
Regulatory Innovation
During the review of etuvetidigene autotemcel (搜索), the FDA exercised appropriate regulatory flexibility across rare disease considerations, clinical trial design, mechanism of action, and chemistry, manufacturing and controls (CMC). The FDA permitted the use of relevant manufacturing and quality data submitted to this BLA from a similar, approved product that was justified to be adequately representative of etuvetidigene autotemcel for these purposes.
Historic Milestone
Waskyra (搜索) represents the first approved genetic treatment from a non-profit sponsor, developed by Fondazione Telethon ETS, an Italy-based organization that funds research into and the development of therapies for rare diseases.
"Today's approval addresses the urgent need in the WAS community, where patients have described living 'a life of terrifying worry and fear' without any approved therapies available," said Vijay Kumar, MD, Acting Director of the CBER Office of Therapeutic Products. "This action marks significant progress in the development of much-needed treatment options for patients affected by this debilitating and life-threatening disease, enabling them to engage in everyday activities such as going to school or participating in sports."