Intrathecal administration of Nusinersen in children and adolescent SMA type 1 and 2

Background: Spinal muscular atrophy (SMA) is an autosomal-recessive disorder resulting in progressive muscle weakness. In August 2017, the Agência Nacional de Vigilância Sanitária (ANVISA) approved the first treatment for SMA, a drug named nusinersen that is administered intrathecally. However, many patients with SMA have neuromuscular scoliosis or spinal instrumentation resulting in challenging intrathecal access. Many centers use radiological methods to guide lumbar puncture, such as ultrasound, videofluoroscopy or tomography, but these methods are often available only in referral centers.

Objective: The authors describe their experience as a reference center in SMA treatment with intrathecal applications of nusinersen.

Methods: Electronic medical record review.

Results: A total of 107 lumbar punctures were performed for application of nusinersen. In 12 patients with SMA type 1, 71 punctures were performed and 36 punctures in 4 patients with SMA type 2. The age of the patients ranged from 1 month to 15 years. None of the patients had previous spine fusion surgeries. Punctures were successfully performed in all patients without the need for a radiological method. Complications occurred in 6 procedures (5,6%) and the adverse events were attributed to lumbar puncture. These events were headache (n= 6), nausea (n= 2), vomit (n= 1), back pain (n= 1). Performing the analysis only with patients able to verbalize those symptoms (SMA type 1C and type 2), in a total of 46 procedures, adverse effects occurred in 13%.

Conclusions: The authors conclude that lumbar punctures for the application of nusinersen are feasible, safe and can be successfully performed without the aid of a radiological method, even in the presence of scoliosis.

 

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Publikationsverlauf

Artikel online veröffentlicht:
18. September 2023