China Registry for Genetic / Metabolic Liver Diseases
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: Standard of care.
- Кому может быть актуально
- Состояния в реестре: Genetic/Metabolic Liver Diseases. Базовые параметры: Без ограничений · 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
A Nation-wide Hospital-based Registry:China Registry for Genetic / Metabolic Liver Diseases
Обзор
CR-GMLD registry started on June 13, 2015 to collect cases of genetic/metabolic liver diseases from tertiary or secondary hospitals in mainland China. Demographics, diagnosis, laboratory test results, family history and prescriptions were recorded. Patients' whole blood and serum were collected for genetic testing and future researches. These patients will be followed-up every six to twelve months.
Подробное описание
This web-based database was launched on June 13, 2015 and consists of tertiary or secondary hospitals with special interest and expertise on managing genetic/metabolic liver diseases patients across mainland China. The main inclusion criteria for this registration are patients who were diagnosed or possibly diagnosed with Wilson's disease, hereditary hemochromatosis, hereditary hyperbilirubinemias, inherited cholestatic liver disease or other genetic/metabolic liver diseases. At the first time of data entry, demographics, medical history, biochemistry and hematology results, radiology reports, diagnosis and treatment information were recorded. Patients' whole blood and serum were collected for molecular genetic testing and future researches. Then the registered patients will receive standard of care and be followed-up every 6 to 12 months. On each visit, biochemical, radiological reports, as well as clinical progress were recorded.
Вмешательства
- Препарат Standard of care
Standard of care according to the updated national and/or international guidelines
Первичные конечные точки
- rate of liver-related events of each disease. [Срок оценки: 10 years]
Вторичные конечные точки (3)
- Genotype profile in Chinese patients of each disease [Срок оценки: 10 years]
- Natural history of Chinese patients with each disease of different genotype [Срок оценки: 10 years]
- Causes of death in Chinese patients of each disease [Срок оценки: 10 years]
Критерии участия
Критерии включения
Patients who were diagnosed or possibly diagnosed with Wilson's disease, hereditary hemochromatosis, hereditary hyperbilirubinemias, inherited cholestatic liver disease or other genetic/metabolic liver diseases.
Критерии исключения
Patients who are unable or unwilling to provide informed consent.
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
Китай · 12 центров
- Beijing Ditan Hospital — Пекин
- Beijing Anzhen Hospital, Capital Medical University — Пекин
- Peking University First Hospital — Пекин
- Beijing YouAn Hospital — Пекин
- Nanfang Hospital of Southern Medical University — Гуанчжоу
- Hebei Medical University Third Hospital — Shijiazhuang
- Henan Provincial Hospital — Чжэнчжоу
- Zhongshan Hospital, Fudan University — Шанхай
- … и ещё 4 центра
Публикации
- Xu A, Lv T, Zhang B, Zhang W, Ou X, Huang J. Development and evaluation of an unlabeled probe high-resolution melting assay for detection of ATP7B mutations in Wilson's disease. J Clin Lab Anal. 2017 Jul;31(4):e22064. doi: 10.1002/jcla.22064. Epub 2016 Sep 17. PMID 27638368
- Lv T, Li X, Zhang W, Zhao X, Ou X, Huang J. Recent advance in the molecular genetics of Wilson disease and hereditary hemochromatosis. Eur J Med Genet. 2016 Oct;59(10):532-9. doi: 10.1016/j.ejmg.2016.08.011. Epub 2016 Aug 31. PMID 27592149
- Zhang W, Li Y, Xu A, Ouyang Q, Wu L, Zhou D, Wu L, Zhang B, Zhao X, Wang Y, Wang X, Duan W, Wang Q, You H, Huang J, Ou X, Jia J; China Registry of Genetic/Metabolic Liver Diseases (CR-GMLD) Group. Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis. Orphanet J Rare Dis. 2022 Jun 6;17(1):216. doi: 10.1186/s13023-022-02349-y. PMID 35668470
Идентификаторы
NCT: NCT03131427 · CR-GMLD