The scientific renaissance is still there, but the commercial abandonnement is already going on. Patients affected by rare diseases and their families are worried they won’t be able to get treatments that are safe and effective but unprofitable for drugmakers. Take a look at the story of Jakob Kamil Guziak, recently told by Business Insider.

He is a three years old boy with a severe combined immunodeficiency (ADA-SCID). The cure exists, but he can’t access it. “Not because they can’t afford it. Not because it’s awaiting government approval. But because the drug companies that controlled the cure didn’t think they could profit from it.” 

Orchard Therapeutics decision to disinvest is affecting both the American and the European markets. However the situation is less worrying for ADA-SCID patients in Europe, where Strimvelis was approved in 2016. Indeed the Italian research group that developed the therapy and the charity that back them are working to create a new foundation to keep Strimvelis on the market. As a result a patient was treated this month, two more will be in October and November, and the program hopefully will keep on going at SR-Tiget, as I report in the Italian edition of Scientific American.  

However ensuring a future for gene therapy is a real challenge. “Technological and regulatory innovations and a change to cost–beneft models are needed so that rare disease patients can receive these life-saving medicines” write Alessandro Aiuti and Luigi Naldini (both at SR-Tiget) and Francesca Pasinelli (Telethon Foundation) in Nature Medicine.

According to the trio, that is working hard to save Strimvelis and other gene therapies, “a close dialogue is needed between all key stakeholders, including academia, patient associations, public and private funding agencies, pharmaceutical companies, contract manufacturing organizations, governmental and global health agencies, regulators, payers and health technology assessment bodies” in order to reform and adapt a system that is fine for common diseases and the industry, but unsuitable for rare pathologies and academic research.