Child-Parent Familial Hypercholesterolemia Screening
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: no interventions.
- Кому может быть актуально
- Состояния в реестре: Familial Hypercholesterolemia. Базовые параметры: 1 год — 3 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
- Китай
- 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
Child-Parent Screening of Familial Hypercholesterolemia in Children
Обзор
Child-parent screening for familial hypercholesterolemia has been proposed to identify children and their parent who are carrier of mutations and with high risk for inherited premature coronary artery disease. The investigators assessed the efficacy and feasibility of such screening in primary care practice. key scientific questions: 1. The 95th and 99th percentile of finger blood TC in children of 2 years old. 2. Mutations that contribute to high TC status ( serum TC \>99th percentiles) compared with international FH48 panel for FH genetic screening.
Подробное описание
Familial hypercholesterolemia (FH) is an inherited condition resulting in high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature coronary artery disease in men and women. Child-parent screening for familial hypercholesterolemia has been proposed to identify persons who are carriers of FH mutations and with high risk for inherited premature coronary artery disease. The investigators will conduct a cross-sectional community-based screening in children of 2 years old to detect FH children cases using finger blood TC test first and followed by serum TC test and mutation test, and to identify and diagnose their affected parents. This study aims to established the child-parent screening program and technique issues for early diagnosis of familial hypercholesterolemia families for future early intervention.
Child-parent screening strategy in our study consists three steps: i. Capillary blood total cholesterol test of children aged around 2 years; ii. re-test for children with cholesterol\>95th percentile in the first step; iii. WES (whole exome sequencing) test for \>P99 in the first two steps. iV: TC test and mutation test to the parents of the child FH cases. The investigators will determine FH families based on the program. Children's Hospital of Fudan University will provide treatment further.
Вмешательства
- Другое no interventions
it is a observational study, do not have interventions.
Первичные конечные точки
- The affected status of Familial Hypercholesterolemia [Срок оценки: At enrollment]
Вторичные конечные точки (3)
- fasting total cholesterol level by Fingertip capillary blood test in children around 2 years old [Срок оценки: At enrollment]
- affected status of known FH mutation [Срок оценки: At enrollment]
- fasting serum LDL-c levels of children with finger TC over P95 [Срок оценки: At enrollment]
Критерии участия
Критерии включения
- Receive routine child care
- aged 1 - 3 years old ( date of investigate minus date of birth)
Критерии исключения
- It is up to the researcher to decide whether it is suitable to participate in this research
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Семейное
Центры проведения
Китай · 6 центров
- Anhui Provincial Children's Hospital — Хэфэй
- Qidong Women and Children Hospital — Qidong
- Weili Yan — Шанхай
- Shanxi Provincial Children's Hospital — Taiyuan
- Chongqin Medical University Affiliated Children's Hospital — Чунцин
- Urumqi Children's Hospital — Ürümqi
Идентификаторы
NCT: NCT04529967 · CHFD-2020007