Two babies diagnosed at La Fe with spinal muscular atrophy receive, for the first time in Spain, an oral treatment that blocks a severe neuromuscular disease

Two Valencian newborns diagnosed with spinal muscular atrophy (SMA) through the neonatal screening project of the La Fe Health Research Institute have become the first in Spain to receive an oral medication that blocks the natural progression of this severe neuromuscular disease, which, without early treatment, leads to severe disability or death.

Specifically, the drug Risdiplam helps block the genetic error they were born with, preventing them from producing a protein essential for the survival of their motor neurons. After seven months of treatment, the babies have achieved sitting up, a motor milestone that would be unthinkable without the therapy. The drug is administered orally once a day, without the need for hospitalization.

Research for neonatal screening

The Valencian Community was a pioneer in Spain in implementing a neonatal screening project for SMA in 2022, for all babies born in the region, about 40,000 annually, in both public and private hospitals.

As part of this initiative, a team from the research groups in molecular and cellular biomedicine, genomics, genetics, metabolic diseases, and neuromuscular diseases at the IIS La Fe, along with the General Directorate of Public Health of the Ministry of Health, developed a standardized informed consent model for parents to authorize the use of data obtained from the heel prick test, routinely performed on all newborns, for research purposes.

The result of the three-year pilot project, as explained by José María Millán, head of the research group at the Biomedical Research Network Center (CiberER) in Molecular, Cellular, and Genomic Biomedicine, is that three babies diagnosed early and without symptoms have benefited from available therapies. Two of the presymptomatic newborns are taking Risdiplam orally, while a third is receiving intrathecal treatment with Nusinersen.

In addition to the neonatal screening, a fourth baby with early symptoms of SMA is also progressing satisfactorily after being the first in the Valencian Community to receive intravenous gene therapy, Onasemnogene abeparvovec.

As José Luis Poveda, manager of the Valencia South Health Group and the La Fe Health Department, recalled, "There are now new therapeutic options that offer great opportunities for patients affected by SMA, and they must be explored in centers of excellence."

In the same vein, Inmaculada Pitarch, a researcher at the U763 CiberER specialized in pediatric neurology and coordinator of the Pediatric Area of the La Fe Neuromuscular Disease Unit, added: "When we detect the disease in the first days of life, we can start treatment before symptoms appear, as there are different therapies available, which significantly improves the prognosis."

Early detection saves lives

Spinal muscular atrophy is a genetically inherited disease considered rare, with an incidence of approximately 1/6,000 to 1/10,000 live births, although the number of carriers of the causative anomaly ranges from 1/40 to 1/60.

The mildest cases exhibit muscle weakness, while more severe cases are associated with mobility problems, difficulties swallowing, breathing issues, or even death. Furthermore, if the disease appears within the first six months of life and is not treated, the prognosis is fatal.

The disease is detected through neonatal screening using a blood sample taken from the newborn's heel right after birth, or, alternatively, through genetic testing in the first few weeks of life.

Consensus among specialists

Currently, there are three treatments that can stop neuronal death in patients with SMA (Risdiplam, Nusinersen, and Onasemnogene abeparvovec), but their effectiveness primarily depends on how soon the treatment is started after the onset of symptoms.

The administration protocols for these treatments are based on the national consensus promoted by La Fe, Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).

Internationally, European and U.S. researchers have also unanimously agreed to include neonatal screening for spinal muscular atrophy "urgently" in national health systems.

In this regard, the Ministry of Health's Public Health Commission and the Valencian Ministry of Health have recently announced new neonatal screenings that routinely include SMA, along with other diseases.

IIS La Fe has contributed to the study supporting this decision through Juan Francisco Vázquez, neurologist and researcher at the La Fe Hospital. The paper, titled "Spinal muscular atrophy update in best practices recommendations for diagnosis considerations," has been published in Neurology Clinical Practice.

Moreover, experts emphasize the importance of having protocols in each autonomous community for the efficient management of positive results, ensuring quick access to qualified and experienced healthcare professionals, so that the family is appropriately supported throughout the process and delays in starting treatment are avoided.