Richard Finkel’s team (Memphis) has published the first case report of in utero treatment with risdiplam (Evrysdi®) for SMN1-related proximal spinal muscular atrophy, or SMA :
- an amniocentesis, carried out because of a history of the disease in the siblings, revealed in one foetus an absence of SMN1 with 2 copies of SMN2, i.e. type I SMA,
- the pregnant woman took risdiplam (5 mg/d) from 32 weeks and 5 days of pregnancy until delivery at 38 weeks and 6 days,
- The presence of risdiplam in the amniotic fluid (33% of the maternal plasma level) and cord blood (69%) attests to its passage through the placental barrier,
- the newborn baby (a girl) received risdiplam from 8 days of age,
- she had congenital anomalies (interventricular communication, hypoplasia of the optic nerves, asymmetry of the brain stem) which would have occurred before treatment,
- Today, aged 30 months, she has no clinical signs or paraclinical findings suggestive of SMA.
Rare genetic disorder treated in womb for the first time. Mallapaty S. Nature 20 February 2025
