A multidisciplinary team at the University Hospital of Toledo has made a milestone in the medical history of Castilla-La Mancha by administering gene therapy for the first time to a 35-day-old baby diagnosed with spinal muscular atrophy (SMA). The young patient, from the town of Herencia in Ciudad Real, was detected through neonatal screening before developing symptoms of this serious disease.
Early detection thanks to expanded screening
Early diagnosis was possible thanks to the recent expansion of the Early Detection Program for Congenital and Metabolic Diseases in newborns in Castilla-La Mancha. This program, known colloquially as the “heel prick test,” now covers 27 diseases, allowing for the identification of cases like this baby’s at a crucial stage for treatment.
SMA: a devastating disease
Spinal muscular atrophy is a degenerative disease that affects motor neurons. Without treatment, in its most severe forms, patients never learn to sit and their life expectancy rarely exceeds two years. Early detection and treatment are crucial to improve the prognosis.
Gene therapy: a revolution in treatment
The therapy administered involves introducing the SMN1 gene, deficient in SMA patients, using a non-pathogenic adenoassociated virus. This treatment, given in a single intravenous dose, allows for the production of the SMN protein, essential for normal muscle function.
Dr. Oscar García Campos, a neuropediatrician at the University Hospital of Toledo, highlights the importance of neonatal screening: “Thanks to this early detection, we can treat patients before they show symptoms. In these cases, no child dies or needs mechanical ventilation, and the vast majority can walk, often with a motor development similar to other children.”
A coordinated effort
The administration of this treatment required exceptional coordination among various healthcare professionals. Marta García Palomo, a pharmacist at the Hospital in Toledo, says: “This gene therapy treatment has been a challenge for which all healthcare professionals involved had to coordinate in record time to provide the treatment safely and as quickly as possible.”
Impact and future
The President of Castilla-La Mancha, Emiliano García-Page, announced this achievement during the opening of the academic year at the University of Castilla-La Mancha in Ciudad Real. This advancement not only brings hope to families affected by SMA in the region but also positions Castilla-La Mancha at the forefront of genetic treatments in Spain.
The successful application of this gene therapy opens up new possibilities for the treatment of rare genetic diseases and underscores the importance of investing in research and advanced medical technology in the public healthcare system.
Spanish post in Bebé de Herencia recibe terapia génica pionera contra la atrofia muscular espinal en Castilla-La Mancha
