RFC1 Natural History Study
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
- В протоколе указаны: Clinical rating scale to measure ataxia disease severity and progression.
- Кому может быть актуально
- Состояния в реестре: Ataxia. Базовые параметры: от 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
- Австралия, Бразилия, Франция, Германия, Италия +2
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Обзор
This international, multi-center, multi-modal and prospective observational study aims to determine the phenotypic spectrum and the natural progression of the RFC1 repeat expansion disease, and to seek and validate digital, imaging, and molecular biomarkers that aid in diagnosis and serve as outcome measures in future clinical trials of this novel, but frequent ataxia with late adult-onset.
Подробное описание
The investigators will perform an international, multi-center, multi-modal, and registry-based standardized prospective Natural History Study (NHS) in RFC1 repeat expansion disease. Participants will be assessed annually. Study visits with a standardized clinical examination will apply several clinical rating scales, and data will be entered into a clinical database (ARCA Registry; www.ARCA-registry.org) customized to the requirements of this specific study. At all study visits, patients will be asked to donate biosamples; biomaterial collection is optional, and participants can elect to participate in sampling of blood, urine, CSF, and/or a skin biopsy.
Optionally, and depending on local availability at each participating site, additional examinations may be performed including imaging, quantitative movement and speech analysis, vestibular testing, a neuropsychological examination, or examination of swallowing function, all to fully capture the multisystemic presentation of the RFC1 repeat expansion disease.
This study will delineate variable phenotypes of this relatively novel disease, and systematically characterize the longitudinal progression of multi-model biomarkers to determine the most sensitive, comprehensive, and reliable outcomes measures for future therapeutic trials. Here, longitudinal validation of targeted fluid biomarker candidates will be an important part. The multi-modal longitudinal design of the study and its comprehensive assessment will also provide mechanistic insights into the multisystemic evolution of the disease, which will especially allow to track and understand selective as well as overlapping dysfunction of the cerebellum, sensory peripheral nerves, the vestibular system, and additional systems known to be involved in RFC1 disease or 'CANVAS' as its related syndrome.
Вмешательства
- Другое Clinical rating scale to measure ataxia disease severity and progression
SARA is a clinical scale developed by Schmitz-Hübsch et al which assesses a range of different impairments in cerebellar ataxia. The scale is made up of 8 items related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test.
Первичные конечные точки
- Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up. [Срок оценки: 24 months]
Вторичные конечные точки (3)
- Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL) from baseline to 2-year follow-up. [Срок оценки: 24 months]
- Charcot-Marie-Tooth Examination Score Version 2 (CMTESv2) from baseline to 2-year follow-up. [Срок оценки: 24 months]
- Nine-Hole Peg Test (9HPT) from baseline to 2-year follow-up. [Срок оценки: 24 months]
Критерии участия
Критерии включения
- RFC1: genetic diagnosis of bi-allelic pathogenic repeat expansions in RFC1
- Unrelated healthy controls: no signs or history of neurological or psychiatric disease AND
- Written informed consent AND
- Participants are willing and able to comply with study procedures
Критерии исключения
- RFC1: Missing informed consent
- Controls: evidence of neuropathy, neurodegenerative disease, or movement disorder; inability to give informed consent
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Да
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
Германия · 3 центра
- Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegene — Tübingen
- German Center for Neurodegenerative Diseases (DZNE) — Bonn
- Department of Neurology University Hospital Schleswig Holstein — Lübeck
Италия · 2 центра
- Università degli Studi di Napoli 'Federico II', c/o AOU Federico II — Naples
- IRCCS Fondazione Stella Maris — Pisa
Австралия · 1 центр
- Department of Neuroscience, Central Clinical School, Monash University — Melbourne
Бразилия · 1 центр
- Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo — São Paulo
Франция · 1 центр
- Service de Neurologie, Hôpitaux Universitaires de Strasbourg — Strasbourg
Новая Зеландия · 1 центр
- Centre of Brain Research Neurogenetics Research Clinic, University of Auckland — Auckland
Turkey (Türkiye) · 1 центр
- Koç University Hospital, KUTTAM-NDAL — Istanbul
Идентификаторы
NCT: NCT05177809 · RFC1-NHS