2. Networks: towards patients, with patients

“We’re facing a new era. In ten years, social media like Facebook and Twitter have connected and empowered patients like never before imagined.” This is the opinion of Tim Guilliams, CEO of Healx, an initiative that helps researchers, foundations and patients with rare diseases identify drugs that could work to treat them. And he doesn’t hesitate to bring up John Crowley, a lawyer with two children with Pompe disease, a rare disease that had no treatment at the time and can be mortal. For Crowley, “It is impossible to develop drugs for these diseases without a group of patients.” He co-founded a small company called Novazyme, which quickly grew and discovered a treatment that partially curbs the progression of the disease.

Networks allow data to be shared and put researchers and patients in contact. This has led to websites like Orphanet and international platforms to manage scientific projects, like E-Rare. Others focus specifically on drug repurposing, like Cures Within Reach. And there are more that work to connect and group together patients, such as the Rare Commons initiative at Hospital Sant Joan de Déu in Barcelona. “Many childhood diseases can be considered rare,” explained Ainhoa Andueza, project manager in the Clinical Research Unit. Drug repurposing can be a way to improve on the options available for these kids, and the website is one way to channel it. The example Andueza gave was a pilot study for a rare disease called Lowe syndrome. Before the study, there were only two patients registered in the Spanish healthcare system’s database. After launching the study and announcing it on Rare Commons, they are now working with 24 Spanish families and 41 from other countries. Plus, “It has helped generate and share knowledge on the disease, while connecting doctors interested in it who were more isolated before.