Waskyra: Gene Therapy for WAS

Overview

The European Medicines Agency (EMA) has issued a positive opinion recommending the marketing authorization of Waskyra™ (etuvetidigene autotemcel), the first-ever gene therapy for Wiskott-Aldrich Syndrome (WAS), a rare and life-threatening genetic immune disorder. This milestone represents a major step forward for patients across Europe who lack a suitable donor for stem cell transplantation.

Waskyra offers a transformative approach by addressing the root cause of the disease: a mutation in the WAS gene, which affects blood cells and the immune system. For patients with WAS, this can mean fewer infections, reduced bleeding episodes, and improved quality of life.

Currently, the only potential cure is hematopoietic stem cell transplantation (HSCT) from a compatible donor—but many patients lack a suitable donor, creating a significant unmet medical need.

How Waskyra Works

Waskyra is an ex vivo gene therapy that uses the patient’s own stem cells to correct the genetic defect:

1. Stem cell collection: CD34+ hematopoietic stem cells are collected from the patient’s blood.

2. Genetic modification: In the laboratory, the cells are transduced with a lentiviral vector containing a functional copy of the WAS gene.

3. Preparation of the bone marrow: Patients undergo a conditioning regimen to prepare the bone marrow to receive the corrected cells.

4. Reinfusion: The corrected cells are infused back into the patient. The therapy is administered once, via a simple infusion.These cells then migrate to the bone marrow and start producing healthy blood and immune cells correcting the immune defect and the bleeding diathesis. 

Clinical Evidence

The EMA recommendation is based on data from 27 patients treated with Waskyra through clinical trials and expanded access programs. Key findings include:

• Severe infections: Reduced from 2.0 events/year before treatment to 0.12–0.15 events/year after treatment

• Moderate and severe bleeding episodes: Reduced from 2.0 events/year before treatment to 0.16 events/year post-treatment

• Safety profile: Most side effects were related to the pre-treatment regimen and administration procedures

The Committee for Advanced Therapies (CAT) concluded that the benefits outweigh the risks for patients with WAS who need HSCT but do not have a suitable donor.

About Fondazione Telethon and TIGET

Fondazione Telethon is an Italian nonprofit biomedical organization dedicated to advancing research on rare genetic diseases. Alongside the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) in Milan, Fondazione Telethon has led the development of Waskyra from discovery to regulatory review, demonstrating the potential of academic research to deliver life-changing therapies. It has been an honor for the Wiskott-Aldrich Foundation to have been a part of this amazing journey to bring this therapy to our patients.

Dr. Alessandro Aiuti, Chief of Pediatric Immunohematology at IRCCS Ospedale San Raffaele, emphasizes:
"The true meaning of science lies in the impact it has on people’s lives."

Waskyra is currently available at the IRCCS Ospedale San Raffaele, the center where the clinical trials were conducted.

Next Steps

The EMA opinion is an important milestone in Waskyra’s journey to patients. The recommendation will now be sent to the European Commission for final approval of EU-wide marketing authorization.

Once approved, price and reimbursement decisions will be made individually by each EU Member State, taking into account the therapy’s role within their national healthcare systems.

The therapy is also under review by the U.S. Food and Drug Administration (FDA). Fondazione Telethon continues to work with regulatory authorities to make Waskyra available to all eligible patients globally.

Key Takeaways

• Waskyra is the first gene therapy for WAS, targeting the underlying genetic cause of the disease

• Administered once, using the patient’s own stem cells

• Significantly reduces infections and bleeding events in patients

• Developed by Fondazione Telethon and TIGET through decades of research

• Represents new hope for families affected by this rare disease

Learn More

For additional information about Waskyra, Wiskott-Aldrich Syndrome, or Fondazione Telethon’s research:

• Fondazione Telethon

• IRCCS Ospedale San Raffaele