The story of a child with an ultra-rare condition, known as Nedamss, has been the catalyst for the development of pioneering research. This disease, caused by a mutation in the IRF2BPL gene, is neurodegenerative and currently has no cure, leading to the loss of acquired skills and other severe symptoms.
The child's parents, faced with a lack of resources and treatments, decided to take the initiative. Following the diagnosis, they connected with other affected families and established an association. Within months, they began funding scientific projects at universities, laying the groundwork for a comprehensive research line.
“"This starts with the parents. Our goal is to find at least something that slows down the disease."
This citizen-led effort found a key ally in Granada, at the GENyO center, where one of the main lines of study is currently underway. A geneticist, hired by the Fundación Progreso y Salud, under the Ministry of Health, leads the team working with cells from the patients themselves. They reprogram these cells into glia and neurons, tissues affected by the disease, and test potential treatments.
In just two years, nearly 50 compounds have been analyzed, identifying several promising candidates. Many of these are existing drugs that could be repurposed. One of them is already being administered to the affected child under compassionate use, with the aim of slowing the disease's progression.
The greatest hope lies in gene therapy, a strategy that seeks to correct the error in the DNA. In the United States, a child has already been treated with encouraging results, managing to halt symptoms and begin development. Spanish families are now mobilizing to bring this clinical trial to Spain, having already raised most of the 1.5 million euros needed.
