Abstrakt
Aim To determine factors associated with acquisition of a sitting position in patients with spinal muscular atrophy type 1 (SMA1) treated with nusinersen. Method Using data from the registry of patients with SMA1 treated with nusinersen, we compared the subgroups of sitters and non-sitters after 14 months of therapy as a function of baseline level, SMN2 copy number, age at treatment initiation, and improvement at 2 and 6 months post-treatment initiation.
We used Hammersmith Infant Neurological Examination, Section 2 (HINE-2) and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders for motor evaluation. Results Fifty children (22 females, 28 males), mean age 22 months (SD 20.7; range 2.5-102.8mo) were treated.
Data on sitting position acquisition were collected for 47 patients at month 14. Fifteen patients were able to sit unassisted; 11 of 15 had a baseline HINE-2 score of at least 2 points and 11 of 14 had an improvement over baseline of at least 2 points at month 6.
Patients who improved by 2 or more points at month 6 were three times more likely to be sitters at month 14 than those who did not. Interpretation High baseline motor function and improvement in HINE-2 score after 6 months of treatment are associated with the probability of acquiring a sitting position in patients with SMA1 treated with nusinersen.
What this paper adds Fifteen of 47 patients with spinal muscular atrophy could sit unaided 14 months after treatment with nusinersen. The number of SMN2 copies were not predictive of acquisition of a sitting position.
Baseline condition and clinical response after 6 months of treatment were most predictive of sitting position acquisition.