EMA recommends approval for first gene therapy to treat Wiskott-Aldrich syndrome

The EMA’s Committee for Medicinal Products for Human Use (CHMP) has recommended marketing authorization in the EU for Fondazione Telethon’s ex vivo gene therapy for Wiskott-Aldrich Syndrome (WAS), a rare and life-threatening primary immunodeficiency.

The therapy, developed through research at the San Raffaele Telethon Institute for Gene Therapy in Milan, was recommended to treat people aged 6 months and older with WAS who have a mutation in the WAS gene. Fondazione Telethon is the first non-profit organization to have successfully led the full pathway from laboratory research to regulatory approval.

Wiskott-Aldrich syndrome is a rare genetic blood disorder that causes immunodeficiency and low platelet count, resulting from mutations in the WAS gene. The disease manifests from early childhood with recurrent and persistent infections, bleeding episodes, eczema, and an increased risk of developing autoimmune diseases and lymphomas. Branded Waskyra, Telethon’s therapy consists of a single administration of autologous CD34+ hematopoietic stem and progenitor cells that have been transduced with a lentiviral vector encoding the WAS gene.

EMA’s recommendation is based on data from a clinical development program involving a total of 27 patients. Overall, the data showed that the annualized rate of severe infections decreased from 2 events in the 12 months before treatment to 0.15 events in the 1-2 years post-Waskyra and to 0.12 events in the 2-3 years post-Waskyra. Similarly, the annualized rate of moderate and severe bleeding episodes decreased from 2 events in the 12 months before treatment to 0.16 events in the 2-3 years post-Waskyra.

The opinion adopted by the CHMP will now be sent to the European Commission for the adoption of a decision on an EU-wide marketing authorization.