Pediatric rare diseases are the target of a new alliance between Hospital Sant Joan de Déu and Fundación La Caixa. The entity has opened a line of action to support research on these diseases developed by the hospital center located in Esplugues de Llobregat. With this objective, the foundation will contribute 2.5 million euros annually over three years, totaling 7.5 million.
The alliance, which aims for stability, has been promoted with the purpose of accelerating patient diagnosis and increasing the number of available therapies. And it does so in the face of the health and social challenge represented by rare diseases, which affect more than three million people in Spain. These conditions encompass more than 10,000 low-prevalence pathologies: they register fewer than five cases per 10,000 inhabitants.
The small number of affected individuals makes the diagnosis and treatment of these diseases difficult, 80% of which manifest in childhood. Many of the affected children and their families are forced to invest years and dozens of tests and visits to specialists before finding an accurate diagnosis that opens the door to possible treatments. The average waiting time is four years from the appearance of the first symptoms until the disease is diagnosed, a figure that climbs to ten years in 25% of patients. Achieving the right diagnosis is not everything either, as 95% of rare diseases do not have a specific treatment, even if detected at early ages.
Hospital Sant Joan de Déu has more than 28,000 active patients with rare diseases, with 1,400 different pathologiesAnd this is where Hospital Sant Joan de Déu comes in, which is the facility that treats the most children with rare diseases in Europe. The hospital center has more than 28,000 active patients with 1,400 different pathologies. In addition, he coordinates a project that brings together a work ecosystem in which 30 Spanish hospitals participate.
Under the name Únicas, this project aims to create and consolidate an innovative comprehensive care model that guarantees specialized and multidisciplinary care for pediatric patients with rare diseases. This system seeks to address these pathologies from a healthcare, social, technological, and research angle. To this end, Únicas plans to create a platform to store and share data among hospitals, a specialized telemedicine center, and a caregivers' school, among other initiatives.
In this context, the agreement between the hospital and the foundation aims to "accelerate patient diagnosis and increase the number of specific therapies, fundamentally based on advanced and emerging therapies," according to the managing director of Hospital Sant Joan de Déu, Manel del Castillo. Both entities aspire to "answer some of the questions" about rare diseases by focusing resources on them, highlighted the president of Fundación La Caixa, Isidre Fainé. All with the dual objective of accelerating diagnoses and increasing available therapies, in favor of patients' quality of life.