Fondazione Telethon Seeks Marketing Approval for Wiskott-Aldrich Syndrome Gene Therapy

Rare Daily Staff

The Italian non-profit Fondazione Telethon said it submitted marketing authorization application to European Medicines Agency for its Gene Therapy for the treatment of rare immunodeficiency Wiskott-Aldrich Syndrome.

The organization, which said it was the first charity in the world to assume responsibility for the production and distribution of a drug—the gene therapy for the treatment of adenosine deaminase (ADA-SCID)­— represents a milestone that confirms the its commitment to making therapies discovered through the work of its researchers available to patients who need them.

Fondzaione Telethon is also working on the submission to of an application to the U.S. Food and Drug Administration to market the gene therapy in the United States.

Wiskott-Aldrich Syndrome (WAS) manifests itself from early childhood with recurrent and relapsing infections, bleeding, eczema, increased risk of developing autoimmune diseases and lymphomas. It almost exclusively affects males. The current treatment options of affected children consist of supportive treatments managing and preventing clinical manifestations.

The WAS gene therapy known as etuvetidigene autotemcel, consists of a single administration of autologous CD34+ stem and progenitor cells transduced by a lentiviral vector encoding for the WAS gene. While a hematopoietic stem cell transplant is potentially curative for children with WAS, it requires the availability of a matched donor and still carries potential complications.

To date, 30 patients with WAS have been treated including three through an early access scheme for people with WAS who have been at least six months without a HLA matched-related donor.

“After announcing our plan to pursue approval for WAS gene therapy, this submission marks a crucial step in this pathway,” said Ilaria Villa, director general of Fondazione Telethon. “We are proud to fulfil our promises to the patient community and donors and reinforce our commitment to accessible and sustainable therapies for rare and ultra-rare diseases.”

Photo: Ilaria Villa, director general of Fondazione Telethon