Nusinersen

Ma K, et al. Brain and Development Case Reports, 2024, 2(4), 100039.

Nusinersen, an intrathecally administered antisense oligonucleotide targeting the SMN2 gene, has revolutionized the treatment of 5q spinal muscular atrophy (SMA). However, its safety and efficacy in SMA patients with ventriculoperitoneal shunts (VPS) due to hydrocephalus remain unclear. A recent case report sheds light on its use in a Chinese patient with SMA type 3 and VPS, highlighting its therapeutic potential in this complex scenario.
The patient, diagnosed with hydrocephalus at six months and treated with VPS at seven months, later presented with delayed motor function and was diagnosed with SMA type 3 at 41 months. Intrathecal nusinersen therapy began at 51 months, with significant motor function improvements observed over 28 months, as measured by standard motor function rating scales. A CT scan also revealed relief of hydrocephalus, and no serious adverse reactions were reported during treatment.
This case underscores the safety and efficacy of nusinersen in SMA type 3 patients, even with a history of VPS. Hydrocephalus, previously considered a potential barrier to intrathecal therapy, was effectively managed alongside nusinersen administration, indicating that it should not be a contraindication.