Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
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: targeted gene panels analysis, whole genome analysis.
- Кому может быть актуально
- Состояния в реестре: Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH), Congenital Portosystemic Shunt. Базовые параметры: 1 Day — 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
- Швейцария
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Обзор
Congenital portosystemic shunt (CPSS) are rare vascular malformations causing blood from the intestines to bypass the liver and directly flow into body's general circulation. Such liver bypass can cause several health problems, one of the most severe being portopulmonary hypertension (PoPH). The goal of this study is to identify pathogenic and potentially pathogenic genetic variants in patients who have both CPSS and PoPH. Future research will assess the contribution of these genetic variants to the development of PoPH. The long-term goal is to use genetic information to identify patients with congenital portosystemic shunts (CPSS) or chronic liver disease who are at risk of developing PoPH to offer anticipatory management. Children and adult patients with both CPSS and PoPH, as well as their close relatives (patient's parents and siblings) can take part in the study. Genetic variations within each family will be studied.
Вмешательства
- Генная терапия targeted gene panels analysis
The following gene panels will be analyzed : pulmonary arterial hypertension ; hereditary hemorrhagic telangiectasia ; congenital heart disease and potentially pathogenic variants in genes previously associated with PoPH in cirrhosis cohort. - Генная терапия whole genome analysis
Family-based identification of dominant or recessive potentially pathogenic variants.
Первичные конечные точки
- List of variants from targeted analysis of selected gene panels [Срок оценки: From February 2026 to February 2029]
- List of variants from whole genome analysis [Срок оценки: Fron February 2026 to August 2029]
Критерии участия
Критерии включения
- Patient is a participant to the IRCPSS with history of PoPH
- Trios composed of CPSS PoPH patients and their parents (trios are mandatory)
- Brother/sister of an enrolled patient
- Trios accept to provide biological samples (blood), sign the inform consent.
- Siblings and/or siblings' legal representatives accept to provide biological samples (blood), sign the inform consent.
Критерии исключения
- Trio condition is not met.
- No genuine parent-offspring trios (check for medically assisted procreation with donors, and adoption)
- For siblings, half-brothers or half-sisters are excluded, as well as adopted children, or children issued from medically assisted procreation with donors.
- Secondary portosystemic shunts
- The refusal by the patient or the patient's legal representatives to provide biological samples or agree with the proposed procedure or after voluntary withdrawal from the project.
- The refusal of one of the parents to provide biological samples or to agree with the proposed procedure or after voluntary withdrawal from the project.
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Да
Дизайн исследования
- Модель наблюдения
- Семейное
Центры проведения
Швейцария · 1 центр
- University Hospitals Geneva / University of Geneva — Geneva
Идентификаторы
NCT: NCT07314814 · 2024-01698 · 2024-01698