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Early Treatment in Preterm Twins With Spinal Muscular Atrophy
Jacob Bistritzer1,2, Dekel Avital1,2, Inbal Golan-Tripto2,3
1Pediatric Neurology Unit, Saban Children's hospital, Soroka University Medical Center, Beer-Sheva, Israel.
Insights
Early treatment is crucial for spinal muscular atrophy (SMA) outcomes. This case study explores sequential treatment with risdiplam and onasemnogene abeparvovec in preterm twins, adding valuable data for this vulnerable population.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Early intervention in spinal muscular atrophy (SMA) significantly improves neurologic and respiratory outcomes.
- The expansion of newborn screening leads to more presymptomatic diagnoses.
- Established treatment guidelines for preterm infants with SMA are lacking, with limited data on treatment safety and efficacy.
Purpose of the Study:
- To present a case of sequential treatment in presymptomatic preterm twins with SMA.
- To contribute to the limited knowledge regarding treatment options for preterm infants with SMA.
Main Methods:
- Case report of preterm twins diagnosed presymptomatically.
- Treatment with risdiplam followed by onasemnogene abeparvovec.
- Monitoring of outcomes (neurologic and respiratory) in the treated infants.
Main Results:
- The twins were born at 32+2 weeks gestation and treated sequentially.
- Risdiplam was administered at 35 weeks, followed by onasemnogene abeparvovec at 43 weeks.
- This case provides additional data on managing SMA in preterm infants.
Conclusions:
- This case highlights the potential for sequential therapy in preterm infants with SMA.
- Further research is needed to establish safety and efficacy of SMA treatments in preterm populations.
- This report adds to the scarce literature on managing SMA in this specific demographic.
Abstract:
Early treatment in spinal muscular atrophy is widely recognized as critical for improving neurologic and respiratory outcomes, especially in presymptomatic infants. With the expansion of newborn screening, more infants are now diagnosed presymptomatically. Currently, there are no established treatment guidelines for preterm infants with spinal muscular atrophy, with only anecdotal reports available. Additionally, there is limited knowledge regarding the safety and efficacy of the different treatments in preterm infants. In Israel, although a newborn screening program for spinal muscular atrophy is not yet implemented, a significant portion of the population participates in genetic carrier screening. Here, we present a case of presymptomatic preterm twins, born at gestational age of 32 + 2 weeks, birth weights of 1855 and 1740 g, respectively. They were treated with risdiplam followed by onasemnogene abeparvovec at a gestational age of 35 and 43 weeks, respectively. This case adds to the limited data on treatment options for preterm infants.
