The Sant Joan de Déu hospital, in Barcelona, is one of the centers that care for the most children with rare diseases in Europe, with more than 28,000 active patients corresponding to more than 1,400 different pathologies. In order to promote research in this area, the center has established an alliance with the La Caixa Foundation, which will contribute 2.5 million euros per year for three years. The objectives: accelerate the diagnosis of patients and increase the number of therapies available through research.
The agreement was signed today by the president of the La Caixa Foundation, Isidro Fainé; the managing director of Sant Joan de Déu, Manel del Castillo; and those responsible for hospital research. “Together, we want to answer some of the existing questions about rare diseases and thus contribute to putting the focus and resources necessary on them to improve the health of pediatric patients,” Fainé reasoned.
The entities highlight that the Barcelona hospital coordinates the Únicas project, a networking system of 30 Spanish hospitals that aims to achieve specialized and multidisciplinary care for children affected by minority diseases from healthcare, social, technological and research perspectives. This project contemplates the creation of a data supply and storage platform and a research support base that reduces the percentage of patients without a diagnosis and increases the availability of specific therapies. Likewise, it proposes the creation of a school for caregivers and a specialized telemedicine center.
More than 3 million people in Spain suffer from one of the more than 10,000 minority diseases, pathologies with a prevalence of less than 5 cases per 10,000 inhabitants. 80% of cases manifest in childhood and continue chronically throughout life with great difficulties in diagnosis, lack of specific treatments and loss of autonomy of the patients. Many children have to wait years, undergo dozens of tests and visit numerous specialists until they obtain a definitive diagnosis. The average wait from the first symptoms to diagnosis is four years, but in 25% of those affected it goes up to ten years.
95% of rare diseases do not have a specific treatment. Treatment that, according to Manel del Castillo, involves research and development of advanced and emerging therapies.
