A groundbreaking study led by scientists at St. Jude Children’s Research Hospital has reported promising results from the first-ever prenatal treatment for Spinal Muscular Atrophy (SMA), a progressive neurodegenerative disorder. The treatment, which involved the orally administered drug risdiplam, was given to a fetus diagnosed with SMA-1, the most severe form of the disease. More than two years after birth, the child showed no identifiable features of SMA, marking a significant milestone in the potential for treating this life-threatening condition before birth.
The research, published in a letter to the New England Journal of Medicine, demonstrates the feasibility of using prenatal treatment for SMA and provides hope for future therapies. The primary objectives of the study were to assess the feasibility, safety, and tolerability of the treatment. “We’re very pleased to see that the parent and child are doing well. The results suggest it would be worthwhile to continue investigating the use of prenatal intervention for SMA,” said Dr. Richard Finkel, the study’s corresponding author, who is also the director of the St. Jude Center for Experimental Neurotherapeutics and a member of the Department of Pediatric Medicine.
SMA is caused by a deficiency of the survival motor neuron protein and occurs in approximately 1 in 11,000 births in the United States. SMA-1, the most common and severe form, leads to progressive muscle weakness and, if left untreated, results in death. While current treatments have shown significant improvements in survival and motor function when administered early, typically shortly after birth, they do not offer a cure.
The study involved a unique case where the parents were carriers of SMA genetic variants and had previously lost an infant to SMA-1 before current treatments were available. Genetic testing through amniocentesis confirmed that their unborn child had no copies of the survival motor neuron gene, a genetic condition highly predictive of SMA-1. The expectant mother was then given risdiplam during the final six weeks of pregnancy to determine if prenatal treatment could prevent the onset of SMA symptoms.
The infant was born with three developmental abnormalities, including a ventricular septal defect, which resolved on its own, optic nerve hypoplasia, and a brainstem asymmetry. These issues were believed to have occurred early in fetal development, before exposure to risdiplam. However, two and a half years after birth, the child has shown no signs of SMA, a promising outcome that supports the safety and feasibility of prenatal treatment.
Dr. Finkel noted that “During the course of the assessment, we really have seen no indication of any signs of SMA,” which further validates the potential of treating SMA prenatally. This case study, which represents a critical step in advancing SMA research, lays the groundwork for a larger, more comprehensive study to explore the use of prenatal risdiplam treatment in SMA-1.
The study’s other contributors include JulieAnn Parker of OBGYN Partners of Augusta, Lutz Mueller and Heidemarie Kletzl of F. Hoffmann-La Roche Ltd., and Samuel Hughes, Matthew Civitello, Alfonso Lavado, and Heather Mefford from St. Jude. The drug used in this study, risdiplam, was provided by F. Hoffmann-La Roche, and the study was supported by the American Lebanese Syrian Associated Charities (ALSAC), the fundraising and awareness organization of St. Jude.
In conclusion, this pioneering study represents a significant breakthrough in the fight against SMA, offering hope for earlier and more effective interventions for this devastating condition. The promising results underscore the need for continued research into prenatal treatments for SMA and similar genetic disorders.
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