Karolina Aragon-Gawinska1,2, Aurore Daron3, Ana Ulinici3, Laura Vanden Brande1, Andreea Seferian1, Teresa Gidaro1, Mariacristina Scoto4, Nicolas Deconinck5,6, Laurent Servais1,3. 1. Institute I-motion, Armand Trousseau Hospital, Paris, France. 2. Department of Neurology, Warsaw Medical University, Warsaw, Poland. 3. Neuromuscular Reference Centre, Citadelle Hospital, Liege, Belgium. 4. Neuromuscular Centre UCL Great Ormond Street Institute of Child Health, London, UK. 5. Department of Paediatric Neurology and Neuromuscular Centre, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), ULB, Brussels, Belgium. 6. Department of Paediatric Neurology, Neuromuscular Reference Centre, UZ Gent, Ghent, Belgium.
Abstract
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.
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.
Authors: Janbernd Kirschner; Nina Butoianu; Nathalie Goemans; Jana Haberlova; Anna Kostera-Pruszczyk; Eugenio Mercuri; W Ludo van der Pol; Susana Quijano-Roy; Thomas Sejersen; Eduardo F Tizzano; Andreas Ziegler; Laurent Servais; Francesco Muntoni Journal: Eur J Paediatr Neurol Date: 2020-07-09 Impact factor: 3.140
Authors: Nikki M McCormack; Mahlet B Abera; Eveline S Arnold; Rebecca M Gibbs; Scott E Martin; Eugen Buehler; Yu-Chi Chen; Lu Chen; Kenneth H Fischbeck; Barrington G Burnett Journal: Cell Rep Date: 2021-05-11 Impact factor: 9.423