Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
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.
Tardieu Marine, Cudejko Céline, Cano Aline, Hoebeke Célia, Bernoux Delphine, Goetz Violette, Pichard Samia, Brassier Anaïs, Schiff Manuel, Feillet François, Rollier Paul, Mention Karine, Dobbelaere Dries, Fouilhoux Alain, Espil-Taris Caroline, Eyer Didier, Huet Frédéric, Walther-Louvier Ulrike, Barth Magalie, Chevret Laurent, Kuster Alice, Lefranc Jérémie, Neveu Julien, Pitelet Gaele, Ropars Juliette, Rivier François, Roubertie Agathe, Touati Guy, Vanhulle Catherine, Tardieu Emilie, Caillaud Catherine, Froissart Roseline, Champeaux Murielle, Labarthe François, Chabrol Brigitte
Аннотация
METHODS: We retrospectively analyzed the outcomes of classical IOPD patients diagnosed in France between 2004 and 2020.
RESULTS: Sixty-four patients were identified. At diagnosis (median age 4 months) all patients had cardiomyopathy and most had severe hypotonia (57 of 62 patients, 92%). ERT was initiated in 50 (78%) patients and stopped later due to being ineffective in 10 (21%). Thirty-seven (58%) patients died during follow-up, including all untreated and discontinued ERT patients, and 13 additional patients. Mortality was higher during the first 3 years of life and after the age of 12 years. Persistence of cardiomyopathy during follow-up and/or the presence of heart failure were highly associated with an increased risk of death. In contrast, cross-reactive immunologic material (CRIM)-negative status (n = 16, 26%) was unrelated to increased mortality, presumably because immunomodulation protocols prevent the emergence of high antibody titers to ERT. Besides survival, decreased ERT efficacy appeared after the age of 6 years, with a progressive decline in motor and pulmonary functions for most survivors.
CONCLUSIONS: This study reports the long-term follow-up of one of the largest cohorts of classical IOPD patients and demonstrates high long-term mortality and morbidity rates with a secondary decline in muscular and respiratory functions. This decreased efficacy seems to be multifactorial, highlighting the importance of developing new therapeutic approaches targeting various aspects of pathogenesis.