Cognitive and Neurological Pathologies in Pompe Disease
Ориентир для пациента и семьи
Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
- Кому может быть актуально
- Состояния в реестре: Pompe Disease. Базовые параметры: 0 лет — 18 лет · Все.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- США
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Обзор
The purpose of this study is to better understand the long-term health effects of Pompe disease and to determine if there are any abnormal changes in the brain and peripheral nerves. Additionally, the investigators will study the relationship between the abnormal changes in brain, nervous system findings, and developmental outcomes. The investigators will collect clinical information from clinic visits as well as assessments such as neuroimaging (magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), and diffusion tensor imaging (DTI)), cognition, academic skills, speech and language function, physical therapy and quantitative muscle ultrasound. Subjects will be in this study for at least 3 years and up to 6 years.
Первичные конечные точки
- To determine the involvement of central nervous system (CNS) pathology in long-term survivors of IPD and early diagnosed LOPD patients being treated with enzyme replacement therapy (ERT) as measure by neuroimaging. [Срок оценки: up to 6 years]
Вторичные конечные точки (6)
- To further investigate developmental outcomes, such as cognition, language, academic skills and fine motor skills, of children with Pompe disease as reported by patient performance report measures. [Срок оценки: up to 6 years]
- To further investigate developmental outcomes, such as cognition, language, academic skills and fine motor skills, of children with Pompe disease as reported by parent report measures. [Срок оценки: up to 6 years]
- To characterize the motor speech function in children with IPD and LOPD as reported auditory-perceptual and instrumental methods. [Срок оценки: up to 6 years]
- To investigate the relationship between neuroimaging findings and developmental outcomes, over time, for children with Pompe disease, as reported by . [Срок оценки: up to 6 years]
- To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using screening questionnaires. [Срок оценки: up to 6 years]
- To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using quantitative muscle ultrasound. [Срок оценки: up to 6 years]
Критерии участия
Критерии включения
- Subject has a confirmed and documented diagnosis of infantile Pompe Disease (IPD) or Late onset Pompe Disease (LOPD)
Критерии исключения
- Refusal to give informed consent
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
США · 1 центр
- Duke University Medical Center — Durham
Публикации
- Crisp KD, Neel AT, Amarasekara S, Marcus J, Nichting G, Korlimarla A, Kishnani PS, Jones HN. Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods. J Clin Med. 2021 Aug 16;10(16):3617. doi: 10.3390/jcm10163617. PMID 34441913
- Korlimarla A, Spiridigliozzi GA, Crisp K, Herbert M, Chen S, Malinzak M, Stefanescu M, Austin SL, Cope H, Zimmerman K, Jones H, Provenzale JM, Kishnani PS. Novel approaches to quantify CNS involvement in children with Pompe disease. Neurology. 2020 Aug 11;95(6):e718-e732. doi: 10.1212/WNL.0000000000009979. Epub 2020 Jun 9. PMID 32518148
- Korlimarla A, Spiridigliozzi GA, Stefanescu M, Austin SL, Kishnani PS. Behavioral, social and school functioning in children with Pompe disease. Mol Genet Metab Rep. 2020 Aug 5;25:100635. doi: 10.1016/j.ymgmr.2020.100635. eCollection 2020 Dec. PMID 32793419
Идентификаторы
NCT: NCT04639336 · Pro00072329