Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24-Month Follow-Up From the Italian Registry.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Pane Marika, Coratti Giorgia, Cutrì Chiara, Varone Antonio, Masson Riccardo, D'Amico Adele, Sansone Valeria, Messina Sonia, Ricci Federica, Ticci Chiara, Bruno Claudio, Agosto Caterina, Benedetti Francesca, Pini Antonella, Siliquini Sabrina, Filosto Massimiliano, Zambon Alberto, Bitetti Ilaria, Manna Maria Rosaria, Dosi Claudia, Zanin Riccardo, Parravicini Stefano, De Sanctis Roberto, Stanca Giulia, Catteruccia Michela, Tosi Michele, Mizzoni Irene, Albamonte Emilio, Franchino Valentina, Sframeli Maria, Cavallina Ilaria, Procopio Elena, Sacchini Michele, Morando Simone, Brolatti Noemi, Trucco Federica, Scarpini Gaia, Briganti Elena, Berti Beatrice, Palermo Concetta, Leone Daniela, Previtali Stefano C, Mercuri Eugenio, ITASMAC working group
Аннотация
METHODS: Based on recent literature, patients' treatment status was categorized as: monotherapy (OA only), bridge therapy (transition to OA within 3 months of starting nusinersen or risdiplam), or switch therapy (transition to OA after > 3 months of 1st treatment). Linear mixed-effects models examined predictors of improvement (CHOP-INTEND), adjusting for baseline motor function, SMN2 copy number, age, and prior treatment. Descriptive analyses were used to show changes in motor, respiratory, and nutritional milestones.
RESULTS: The cohort included 64 patients: 27 monotherapy, 9 bridge, and 28 switch. All patients showed significant improvement over 24 months (β = 20.40 points/year, p < 0.001). Patients who switched showed slower improvement (β = -3.76, p = 0.038) compared to monotherapy, while those who bridged showed no difference. Older age at treatment was associated with slower improvement (β = -1.48 points/year per month, p = 0.002). Of 49 non-sitters at baseline, 39 (80%) achieved sitting and 5 (10%) achieved walking. No new safety signals emerged in the second year of follow-up.
INTERPRETATION: Age and baseline motor functional status significantly influence outcomes; however, substantial confounding, particularly the initial treatment, limits the ability to isolate individual effects. Longer follow-up is essential for evaluating therapeutic responses in heterogeneous SMA I populations.