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Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center
Rodrigo H Mendonça1, Graziela J Polido1, Ciro Matsui1
1Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
Journal of Neuromuscular Diseases
|October 19, 2020
Summary
Nusinersen treatment improved motor function in patients with later-onset Spinal Muscular Atrophy (SMA) types 2 and 3. Early treatment initiation and shorter disease duration were linked to better outcomes, though scoliosis progression was not halted.
Area of Science:
- Neurology
- Genetics
- Pharmacology
Background:
- Spinal muscular atrophy (SMA) is a progressive motor neuron disease causing significant muscle weakness and disability.
- Later-onset SMA types 2 and 3 present unique challenges in managing motor function decline.
Purpose of the Study:
- To evaluate the efficacy of nusinersen, an antisense oligonucleotide, in improving motor function for patients with SMA types 2 and 3.
- To compare the outcomes of nusinersen treatment against a control group of untreated SMA patients over a 24-month period.
Main Methods:
- A single-center, retrospective observational study design.
- Assessment of motor function using the Hammersmith Functional Motor Scale-Expanded (HFMSE) and the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disease (CHOP-INTEND) scales.
- Comparison of nusinersen-treated patients (N=41) with an untreated control group (N=37) over at least 24 months.
Main Results:
- Nusinersen treatment led to a mean increase in HFMSE scores of +1.60 points after 24 months, contrasting with a decline of -3.93 points in the control group.
- Patients with more severe SMA (N=11) showed a mean improvement of +2.37 points on the CHOP-INTEND scale after 12 months.
- Shorter disease duration at treatment initiation was a key predictor of functional improvement; however, nusinersen did not prevent scoliosis progression.
Conclusions:
- Nusinersen demonstrates long-term safety and efficacy in treating later-onset SMA types 2 and 3.
- Early intervention with nusinersen is associated with better motor function outcomes.
- While nusinersen aids in motor stabilization, comprehensive management strategies are needed for associated conditions like scoliosis.
