Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
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.
Schwartz Oliver, Vill Katharina, Pfaffenlehner Michelle, Behrens Max, Weiß Claudia, Johannsen Jessika, Friese Johannes, Hahn Andreas, Ziegler Andreas, Illsinger Sabine, Smitka Martin, von Moers Arpad, Kölbel Heike, Schreiber Gudrun, Kaiser Nadja, Wilichowski Ekkehard, Flotats-Bastardas Marina, Husain Ralf A, Baumann Matthias, Köhler Cornelia, Trollmann Regina, Schwerin-Nagel Annette, Eisenkölbl Astrid, Schimmel Mareike, Fleger Martin, Kauffmann Birgit, Wiegand Gert, Baumgartner Manuela, Rauscher Christian, Cirak Sebahattin, Gläser Dieter, Bernert Günther, Hagenacker Tim, Goldbach Susanne, Probst-Schendzielorz Kristina, Lochmüller Hanns, Müller-Felber Wolfgang, Schara-Schmidt Ulrike, Walter Maggie C, Kirschner Janbernd, Pechmann Astrid, SMARTCARE study group
Аннотация
OBJECTIVE: To compare data obtained on patients with SMA diagnosed through newborn screening and those diagnosed after clinical symptom onset.
DESIGN, SETTING, AND PARTICIPANTS: This nonrandomized controlled trial used data from the SMARTCARE registry to evaluate all children born between January 2018 and September 2021 with genetically confirmed SMA and up to 3 SMN2 copies. The registry includes data from 70 participating centers in Germany, Austria, and Switzerland. Data analysis was performed in February 2023 so that all patients had a minimal follow-up of 18 months.
EXPOSURE: Patients born in 2 federal states in Germany underwent screening in a newborn screening pilot project. All other patients were diagnosed after clinical symptom onset. All patients received standard care within the same health care system.
MAIN OUTCOMES: The primary end point was the achievement of motor milestones.
RESULTS: A total of 234 children (123 [52.6%] female) were identified who met inclusion criteria and were included in the analysis: 44 (18.8%) in the newborn screening cohort and 190 children (81.2%) in the clinical symptom onset cohort. The mean (SD) age at start of treatment with 1 of the approved disease-modifying drugs was 1.3 (2.2) months in the newborn screening cohort and 10.7 (9.1) months in the clinical symptom onset cohort. In the newborn screening cohort, 40 of 44 children (90.9%) gained the ability to sit independently vs 141 of 190 (74.2%) in the clinical symptom onset cohort. For independent ambulation, the ratio was 28 of 40 (63.6%) vs 28 of 190 (14.7%).
CONCLUSIONS AND RELEVANCE: This nonrandomized controlled trial demonstrated effectiveness of newborn screening for infants with SMA in the real-world setting. Functional outcomes and thus the response to treatment were significantly better in the newborn screening cohort compared to the unscreened clinical symptom onset group.
TRIAL REGISTRATION: German Clinical Trials Register: DRKS00012699.