A multidisciplinary team of professionals from the University Hospital of Toledo, part of the Castilla-La Mancha Health Service (Sescam), has administered, for the first time in the region, gene therapy to a 35-day-old baby with spinal muscular atrophy (SMA), detected by neonatal screening before developing the disease.
SMA is a degenerative and progressive disease that damages motor neurons. Without treatment, in the most severe forms, patients never recover and usually die within two years.
The diagnosis was obtained through neonatal screening after the government of Castilla-La Mancha expanded to 27 the number of diseases included in the program for the early detection of congenital and metabolic diseases in newborns, known as the “heel test”, which consists of obtaining a blood sample by pricking the heel of the newborn between 48 and 72 hours of life.
The President of Castilla-La Mancha, Emiliano García-Page, spoke today about this innovative treatment and the fact that it was possible thanks to the detection of the disease through the heel test. “The family would not have been able to afford it without Public Health,” he also said, hoping that the baby, from Herencia (Ciudad Real), can move forward:
After the diagnosis, the Hospital Pharmacy Service of the Toledo Hospital set up all the administrative mechanisms to obtain this medicine and it was administered in the Pediatric Intensive Care Unit. Gene therapy allows increasing the SMN protein by introducing the deficient SMN1 gene.
This is carried by a vector, in this case a non-pathogenic adeno-associated virus (DNA), which is inoculated into the patient in a single dose intravenously, for which hospitalization is necessary, which will begin to produce from that moment the protein deficiency.
The importance of newborn screening
The neuropediatrician at the University Hospital of Toledo, Dr. Óscar García Campos, explains that thanks to neonatal screening, it is possible to treat patients early, before they show symptoms. In these cases, no child dies or needs mechanical ventilation, the vast majority walk and, in many cases, their motor development is no different from that of other children.
For her part, the pharmacist at the Toledo hospital, Marta García Palomo, explains that this gene therapy treatment has been “a challenge for which all the health professionals involved have had to coordinate in record time, to provide the treatment safely, in the shortest possible time.
“In the Pharmacy department, we designed and adapted the circuits related to its reception, storage, preparation and distribution, since it was the first treatment made up of viral vectors, with the biosecurity problems that this implies.”
For this purpose, the training of the personnel involved was ensured, the available material resources and their adequacy were verified and all the processes of passing the medicine through the pharmacy were validated, including the cleaning and disinfection protocols before and after preparation of the treatment, indicated García Palomo.
The application was possible thanks to a multidisciplinary team made up of professionals from the pediatrics, hospital pharmacy, pediatric intensive care and nursing departments, both from the University Hospital of Toledo, where the drug was administered; as well as the University Hospital of La Mancha Centro, in Alcázar de San Juan, where the patient comes from.
