Genetics in medicine : official journal of the American College of Medical Genetics · 2025
Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
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.
Regmi Neha, Kenney-Jung Daniel, Stafford Grace, Malinzak Michael, Spiridigliozzi Gail A, Boggs Tracy, Koch Rebecca L, Smith Phillip Brian, Case Laura E, Young Sarah P, Jones Harrison N, Kishnani Priya S
Аннотация
PURPOSE: This study details the long-term clinical outcomes in adult participants with CRIM-positive infantile-onset Pompe disease treated with enzyme replacement therapy (ERT), initially reported in 2012 (n = 11).
METHODS: Medical records were reviewed for multisystem involvement and biomarker trends. Central nervous system involvement was evaluated using a Modified Fazekas Score to grade white matter hyperintensities on brain magnetic resonance imaging.
RESULTS: Of the initial 11 participants, 8 had survived to adulthood (median age 19.6 years), and 3 died (2 of arrhythmia, 1 of status epilepticus). All survivors began ERT between 0.2 to 6 months of age (7 at 20 mg/kg biweekly; 1 at 40 mg/kg biweekly), with subsequent escalation to 40 mg/kg/week of alglucosidase alfa between ages 8 to 15 years. None of the participants received immune modulation. Cardiac hypertrophy was resolved in all; 2 developed arrhythmias requiring intervention. None of the participants required invasive ventilation. Two participants were ambulatory; 6 used wheelchairs. Flaccid dysarthria (8/8), ptosis (4/8), and sensorineural hearing loss (6/8) were common. White matter hyperintensities were present in all but remained mild to moderate on Modified Fazekas Score. Cognitive function remained stable.
CONCLUSION: Long-term ERT preserves cardiac and respiratory function in adult infantile-onset Pompe disease survivors; however, multisystem morbidity persists, highlighting the need for earlier diagnosis and better therapies targeting muscle and other tissues including the central nervous system.
METHODS: Medical records were reviewed for multisystem involvement and biomarker trends. Central nervous system involvement was evaluated using a Modified Fazekas Score to grade white matter hyperintensities on brain magnetic resonance imaging.
RESULTS: Of the initial 11 participants, 8 had survived to adulthood (median age 19.6 years), and 3 died (2 of arrhythmia, 1 of status epilepticus). All survivors began ERT between 0.2 to 6 months of age (7 at 20 mg/kg biweekly; 1 at 40 mg/kg biweekly), with subsequent escalation to 40 mg/kg/week of alglucosidase alfa between ages 8 to 15 years. None of the participants received immune modulation. Cardiac hypertrophy was resolved in all; 2 developed arrhythmias requiring intervention. None of the participants required invasive ventilation. Two participants were ambulatory; 6 used wheelchairs. Flaccid dysarthria (8/8), ptosis (4/8), and sensorineural hearing loss (6/8) were common. White matter hyperintensities were present in all but remained mild to moderate on Modified Fazekas Score. Cognitive function remained stable.
CONCLUSION: Long-term ERT preserves cardiac and respiratory function in adult infantile-onset Pompe disease survivors; however, multisystem morbidity persists, highlighting the need for earlier diagnosis and better therapies targeting muscle and other tissues including the central nervous system.