ARTEMIS - The ARTEMIS Cohort
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: Non-progressive Congenital Ataxia, Ataxic Cerebral Palsy. Базовые параметры: 5 лет — 8 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
- Бельгия, Дания, Франция, Германия, Греция +2
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Официальное название
Non-progressive Congenital Ataxia - Advancing Diagnosis to Enhance Chances for Targeted Therapy
Обзор
This multinational European observational clinical study focuses on non-progressive congenital ataxia (NPCA), a very rare early-onset neurological condition also within the cerebral palsy (CP) concept as ataxic CP. The study aims to improve the diagnosis and care of affected children through a comprehensive approach that integrates detailed clinical assessments, brain imaging analyses, and advanced genetic testing. By identifying developmental trajectories, specific impairment profiles, brain MRI patterns, and genetic variants, the researchers aim to elucidate underlying mechanisms, origins and clinical heterogeneity of NPCA. The study also assesses the broader impact of the condition on the quality of life of affected children and the associated burden on their families. Preliminary data found a high prevalence of cognitive and neuropsychiatric impairments, and a frequent lack of identifiable brain lesions on MRI, raising the hypothesis of a strong genetic contribution.
Подробное описание
Non-progressive congenital ataxia (NPCA), also known as ataxic cerebral palsy (CP), is a very rare (0.8 p 10.000 livebirths) early-onset motor disorder characterized by disordered muscular coordination, affecting the force, rhythm, and accuracy of movements. The ARTEMIS clinical study is a European multinational, multicentre, observational study, designed to study the natural history of NPCA, and investigate the clinical, neuroimaging, and genetic characteristics of NPCA. Its collects comprehensive data from children aged 5 to 8 years with a confirmed diagnosis according to the Surveillance of Cerebral Palsy in Europe (SCPE) definition from neonatal period (retrospective data collection) to time of assessment (5 to 8 years of age).
The study involves reference centres across France, Belgium, Denmark, Germany, Greece, Norway, Hungary, and Sweden. The study aims to comprehensively characterize NPCA by assessing clinical impairments, developmental trajectories, brain MRI findings, and genetic data, while also evaluating children's quality of life, parental burden, and healthcare pathways.
Первичные конечные точки
- Characterization of NPCA/ataxic CP [Срок оценки: At time of clinical examination, between ages 5 and 8 years, and review of MRI and genetic findings]
Вторичные конечные точки (12)
- Clinical characterisation [Срок оценки: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]]
- Cognition and neuropsychiatric features [Срок оценки: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]]
- Speech [Срок оценки: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]]
- Communication [Срок оценки: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]]
- Gross motor function [Срок оценки: At time of examination at 5 to 8 years of age]
- Fine motor function [Срок оценки: At time of examination at 5 to 8 years of age]
- Manual ability [Срок оценки: At time of examination at 5 to 8 years of age]
- Epilepsy [Срок оценки: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]]
- Epilepsy characteristics [Срок оценки: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]]
- Epilepsy treatment [Срок оценки: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]]
- Onset of epilepsy [Срок оценки: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]]
- Visual impairment [Срок оценки: [Time Frame: At time of clinical assessment, between ages 5 and 8 years]]
Критерии участия
Inclusion Criteria: • male or female children
- confirmed diagnosis of NPCA/Ataxic CP (SCPE definition)
- aged ≥ 5 years and ≤ 8 years at time of data collection
- written informed consent of at least one parent or legal representative in accordance to country regulations, and verbal assent of the child when possible
Exclusion Criteria: Children with all other diagnoses of movement disorders or other CP subtypes
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Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
Бельгия · 1 центр
- KU Leuven — Leuven
Дания · 1 центр
- Aarhus University Hospital — Aarhus
Франция · 1 центр
- Toulouse University Hospital — Toulouse
Германия · 1 центр
- University Hospital Tübingen — Tübingen
Греция · 1 центр
- IASO Children's Hospital — Athens
Норвегия · 1 центр
- Vestfold Hospital Trust — Tønsberg
Швеция · 1 центр
- Queen Silvia Children's Hospital at Sahlgrenska University Hospital — Gothenburg
Идентификаторы
NCT: NCT07421219 · 825575 - 2023-00546