A report of 2 cases of successful early treatment of spinal muscular atrophy (SMA) in infants has been published in Neuromuscular Disorders. The infants have since had normal motor development, providing further evidence of the importance of early treatment initiation in these patients, immediately after birth if possible.
“The treatment options for affected babies should be discussed with the family in-depth, and naturally this has to be done at a very early stage, preferably not beyond the newborn period,” the authors wrote. “To our knowledge, our infants were the earliest ever treated SMA cases.”
The babies were both diagnosed prenatally, and they were treated with nusinersen at 7 hours and 3 days after birth, respectively.
The first baby was born without deep tendon reflexes, which were restored at the 40-day neurological examination (after 4 loading doses of nusinersen), and he has continued to achieve normal motor milestones.
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The second baby was asymptomatic and was therefore enrolled in the NURTURE trial, which is specifically designed for asymptomatic infants with SMA. Her growth has been completely normal, and she continues with the NURTURE protocol today at nearly 6 years of age.
The authors note that the first baby has 2 copies of the SMN2 gene and a history of sibling losses, while the second baby has 3 copies of the SMN2 gene, which could be a modifying factor in her case.
The authors support widespread prenatal and newborn screening programs to provide SMA treatment as early as possible, with the aim of optimizing these babies’ chances of achieving normal motor and mental functions.
Ünver O, Çelik T, Memişoğlu A, et al. The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever. Neuromuscul Disord. Published online June 8, 2022. doi:10.1016/j.nmd.2022.06.002