Mari Carmen Gómez, a 30-year-old olive harvester, and her newborn daughter Aitana were locked in an isolation room at a hospital in Córdoba, Spain, for six months due to Aitana’s rare genetic disease, severe combined immunodeficiency of adenosine deaminase (ADA-SCID). Aitana, one of only one newborn per year in Spain, was treated with gene therapy, Strimvelis, which saved her life. Initially, the therapy was developed by GSK and Orchard Therapeutics, but it was nearly discontinued due to poor commercial prospects. However, the Telethon Foundation, affiliated with the San Raffaele public hospital in Milan, Italy, pledged to continue producing the treatment on a non-profit basis.
Aitana’s story highlights the tension between innovation and financing in the pharmaceutical industry, particularly with rare diseases. The Telethon Foundation continues to produce Strimvelis at its original price, making it one of the most expensive treatments ever, at €594,000. Experts believe the results of Strimvelis are very good, with 77% of treated patients remaining disease-free 10 years after receiving therapy. The case also raises the need for universal neonatal screening to ensure earlier identification and better care for affected children. Aitana’s mother, Mari Carmen, has been studying to become a nursing assistant, and the doctor in charge of her case, Manuel Santamaría, hopes to see her become a nurse one day.