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Javier Lunar, a five-year-old boy from Córdoba, Spain, has been cured of Wiskott-Aldrich syndrome, a rare genetic disorder affecting the immune system, thanks to a revolutionary gene therapy. Initially diagnosed at six months old, Javier faced a dire prognosis due to the absence of a compatible bone marrow donor. Fortunately, he qualified for a clinical trial for a groundbreaking therapy developed by the Telethon Foundation in Milan, which replaced his defective gene with a functional version using a modified virus.
The Telethon Foundation recently made history by becoming the first non-profit entity to seek approval from the European Medicines Agency (EMA) and the U.S. Food and Drug Administration (FDA) for such innovative treatments, a move that aims to make gene therapies more accessible to patients despite high development costs. Celeste Scotti, head of Research and Development at the Telethon Foundation, emphasized the importance of the initiative to ensure that rare diseases receive the necessary attention and funding. Approximately 30 children have already benefited from this cutting-edge therapy, signaling a hopeful future for those affected by Wiskott-Aldrich syndrome and similar conditions.