Telethon Foundation Will Make and Distribute ADA-SCID Drug

“Strimvelis returns home.” With these words, Alessandro Aiuti, MD, PhD, head of the Pediatric Immunohematology Unit at the Scientific Institute for Research and Healthcare (IRCCS) San Raffaele Hospital in Milan and deputy director of the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), announced September 12 that the Telethon Foundation will now produce and distribute the drug for the treatment of primary adenosine deaminase deficiency / severe combined immunodeficiency (ADA-SCID).

Strimvelis was developed in the 2000s by Aiuti and his colleagues at Tiget. This is the first time in the world that a nonprofit foundation, funded solely by donations from supporters, will be taking on such a significant role to ensure that the only available treatment for a rare disease is not removed from the market.

What Is Strimvelis?

ADA-SCID is a congenital condition caused by the alteration of a single gene responsible for producing adenosine deaminase, an enzyme necessary for the maturation and functioning of lymphocytes. The defect is inherited as an autosomal recessive trait. It affects anywhere from 1 in 200,000 to 1 in 1 million live births, and it hampers the proper development of the immune system. ADA-SCID manifests itself in the first few months after birth, and it renders patients vulnerable to any infection. Those afflicted, sometimes referred to as “bubble children,” are forced to live in aseptic environments.

Until a few years ago, the only therapeutic options for ADA-SCID were hematopoietic stem cell transplantation from a compatible or partially compatible donor (a solution possible in only 20% of cases) and periodic intravenous administration of the missing enzyme (a temporary measure while awaiting a curative treatment).

In 2016, the European Medicines Agency (EMA) authorized the marketing of Strimvelis, the first ex vivo gene therapy for the definitive cure of ADA-SCID, for patients who cannot undergo transplantation from a compatible donor. The treatment involves the extraction of hematopoietic stem cells from the patients themselves. Outside the patient’s body, the cells are exposed to a viral vector that gives them a functional copy of the adenosine deaminase gene. The corrected stem cells are then reinfused into the patient. With a single administration, the disease is permanently cured.

So far, 45 patients from around the globe have been treated successfully at the San Raffaele Hospital, the only authorized center in the world to administer Strimvelis.

Investors vs Patients

The beneficiary of the marketing authorization granted by the EMA in 2016 was GSK, with which the Telethon Foundation had reached an agreement for the production and distribution of the drug.

“Just a year later, the multinational company transferred the license to Orchard Therapeutics, a company that specializes in the development of gene therapies for rare diseases,” explains Francesca Pasinelli, CEO of Telethon Foundation. “In March 2022, Orchard Therapeutics announced the discontinuation of its entire department dedicated to the development and production of drugs for primary immunodeficiencies, including Strimvelis and another drug yet to be registered, for the treatment of Wiskott-Aldrich syndrome. The production and distribution of treatments for such rare diseases are not economically viable for a company that has to pay dividends to its investors. Strimvelis would have been withdrawn from the market, and dozens of patients worldwide would have lost all hope of being cured.”

Foundation Steps In

In May 2022, the Telethon Foundation requested that the EMA transfer the drug license to ensure its continued availability. The agency evaluated the resources provided by the Foundation, including facilities and specialized personnel to manage production and distribution.

“So far, Strimvelis has been produced within San Raffaele by AGC Biologics pharmaceutical unit on behalf of Orchard Therapeutics. It will continue to be produced on behalf of the Foundation,” said Pasinelli. “We have also established a dedicated scientific service and the necessary facilities and personnel to manage pharmacovigilance.” On July 17, the EMA approved the transfer, and the Telethon Foundation became the sole holder of the marketing authorization for the drug. The treatment will continue to be available at San Raffaele for patients in need.

A Sustainable Model

“With our initiative, we want to propose a new, economically sustainable model for producing drugs for rare diseases that are not profitable for private companies,” Pasinelli explained. “As a nonprofit foundation, we have no investors to repay with financial dividends. Our investors are the supporters who fuel research with their donations. We repay them with the impact of treatments on the health of people with rare diseases. Therefore, production and distribution of the therapy are economically sustainable for us, even if it generates reduced revenue. The income comes from donations, reimbursements from the National Health Service for Italian patients and those from the European Union, as well as private funds for patients outside the European Union.”

The Foundation’s next step will be to register the drug for Wiskott-Aldrich syndrome with the EMA (the drug was discontinued by Orchard Therapeutics) and to manage its production and distribution.

This article was translated from Univadis Italy.

For more news, follow Medscape on Facebook, Twitter, Instagram, YouTube, and LinkedIn

Source: Read Full Article