Nusinersen in pediatric and adult patients with type III spinal muscular atrophy.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Pera Maria Carmela, Coratti Giorgia, Bovis Francesca, Pane Marika, Pasternak Amy, Montes Jacqueline, Sansone Valeria A, Dunaway Young Sally, Duong Tina, Messina Sonia, Mizzoni Irene, D'Amico Adele, Civitello Matthew, Glanzman Allan M, Bruno Claudio, Salmin Francesca, Morando Simone, De Sanctis Roberto, Sframeli Maria, Antonaci Laura, Frongia Anna Lia, Rohwer Annemarie, Scoto Mariacristina, De Vivo Darryl C, Darras Basil T, Day John, Martens William, Patanella Katia A, Bertini Enrico, Muntoni Francesco, Finkel Richard, Mercuri Eugenio, iSMAC group
Аннотация
METHODS: Patients were assessed using Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and 6-Minute Walk Test (6MWT) with a mean follow-up of 1.83 years after nusinersen treatment.
RESULTS: Over 75% of the 144 patients had a 12-month follow-up. There was an increase in the mean scores from baseline to 12 months on both HFMSE (1.18 points, p = 0.004) and RULM scores (0.58 points, p = 0.014) but not on the 6MWT (mean difference = 6.65 m, p = 0.33). When the 12-month HFMSE changes in the treated cohort were compared to an external cohort of untreated patients, in all untreated patients older than 7 years, the mean changes were always negative, while always positive in the treated ones. To reduce a selection bias, we also used a multivariable analysis. On the HFMSE scale, age, gender, baseline value, and functional status contributed significantly to the changes, while the number of SMN2 copies did not contribute. The effect of these variables was less obvious on the RULM and 6MWT.
INTERPRETATION: Our results expand the available data on the effect of Nusinersen on type III patients, so far mostly limited to data from adult type III patients.