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Elective preterm birth for earlier spinal muscular atrophy treatment
Tamara Dangouloff1, Frédéric Chantraine2, Nadège Hennuy3
1Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liège & University of Liège, Liège, Belgium.
Insights
Early intervention is crucial for spinal muscular atrophy (SMA). This case highlights planned preterm birth and rapid postnatal therapy as a viable strategy for high-risk SMA infants, offering an alternative to in utero treatments.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Spinal muscular atrophy (SMA) is a severe neuromuscular disorder.
- Early treatment is critical for improving outcomes in SMA patients.
- Prenatal diagnosis in fetuses with two SMN2 copies presents challenges.
Purpose of the Study:
- To report a case of a late-preterm infant diagnosed with SMA in utero.
- To evaluate the efficacy of planned preterm delivery followed by rapid postnatal treatment.
- To explore alternatives to in utero therapy for high-risk SMA.
Main Methods:
- Prenatal diagnosis of homozygous SMN1 deletion and two SMN2 copies.
- Planned delivery at 35+4 weeks gestation.
- Postnatal treatment with risdiplam and onasemnogene abeparvovec.
- Monitoring of neurofilament light-chain levels and motor development.
Main Results:
- Infant received risdiplam on day 2 and onasemnogene abeparvovec on day 59.
- Normal initial neurofilament light-chain levels, with a transient rise post-gene therapy.
- Initial normal motor development, followed by transient hypotonia, with recovery by 5 months.
- Successful motor development normalization by 5 months of age.
Conclusions:
- Planned preterm delivery with rapid postnatal treatment is a pragmatic alternative for high-risk SMA.
- This approach may be considered pending further longitudinal data on in utero therapies.
- Multidisciplinary consultation is key for managing complex prenatal SMA cases.
Abstract:
Spinal muscular atrophy is a severe neuromuscular disorder in which early treatment significantly improves outcomes. Prenatal diagnosis, particularly in fetuses with two SMN2 copies, presents unique challenges. We report a late-preterm infant diagnosed in utero with homozygous SMN1 deletion and two SMN2 copies, whose older sibling developed motor deficits despite early postnatal treatment. Following multidisciplinary consultation, delivery was planned at 35+4 weeks to enable immediate therapy. The infant received oral risdiplam on day 2 of life, followed by intravenous onasemnogene abeparvovec on day 59. Neurofilament light-chain levels were normal at birth and remained low, except for a transient rise after gene therapy. Initial motor development was normal until 2 months, when hypotonia appeared, followed by recovery and normalization by 5 months. This case suggests that planned preterm delivery with rapid postnatal treatment may be a pragmatic alternative to in utero therapy for high-risk spinal muscular atrophy, pending further longitudinal data.
