Biological Collection for Marfan and Related Syndromes
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: collection of samples of blood and urine.
- Кому может быть актуально
- Состояния в реестре: Marfan Syndrome. Базовые параметры: 3 лет — 99 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
- Франция
- 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
Constitution of a Biological Collection to Study the Pathophysiology in Marfan Syndrome and Related Syndromes and to Identify Predictive Factors of Disease Progression
Обзор
The present study will establish a collection of biological samples from Marfan patients or with associated diseases to be used for research purposes only, with due respect for confidentiality.
Подробное описание
Marfan syndrome is an autosomal dominant disease (incidence 1/5000) characterized by ocular, cardiac and skeletal abnormalities. More recently, a decrease in fat and muscle mass has been demonstrated, associated with a decrease in exercise endurance, causing a significant deterioration in the quality of life. Little is known about the pathophysiology of these symptoms. Patients with Marfan syndrome or related diseases are followed at the children's hospital as part of the Rare Diseases Reference Centre (CRMR) for Marfan syndrome at the Toulouse University Hospital. During regular check-up visits, an extra sample of blood and urine will be collected and stored for research utilisation with the patient's consent. The ultimate objective of this collection is to provide available biological resources to facilitate the development of subsequent studies aimed at better characterizing the multisystemic disorders in Marfan syndrome, to understand the pathophysiology of the disease, and to identify biological factors that predict the severity and progression of the disease. The possibility of having systematically collected biological resources will make it possible to answer certain questions more quickly depending on the progress of research.
Вмешательства
- Биопрепарат collection of samples of blood and urine
extra samples of blood and urine will be collected and stored for research utilisation
Первичные конечные точки
- Constitution of a biological collection from patients with Marfan or related syndromes. [Срок оценки: Day 0]
- Constitution of a biological collection from patients with Marfan or related syndromes. Collection of samples at inclusion. [Срок оценки: during the intervention/procedure/surgery]
Критерии участия
Критерии включения
- Children aged at least 3 years old or adult with Marfan syndrome or related syndromes
- Patients affiliated to or beneficiaries of a social security scheme
- Patients able to receive information on the progress of the study and understand the information form to participate in the study. That implies to master the French language and not to be subject to a restriction of rights by the judicial authorities
- Patients or legal representative who have given their consent to participate in the study (expression of no objection)
Критерии исключения
- Patients subject to a legal protection measure (guardianship, curators, or safeguard of justice)
- Pregnant or breastfeeding women
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
Франция · 1 центр
- Purpan University Hospital — Toulouse
Идентификаторы
NCT: NCT04970459 · RC31/21/0178