HoFH, the International Clinical Collaborators Registry
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: Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence..
- Кому может быть актуально
- Состояния в реестре: Homozygous Familial Hypercholesterolemia. 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
- США, Нидерланды, ЮАР
- 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
HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform
Обзор
Homozygous familial hypercholesterolemia (HoFH), a rare inherited disorder caused by bi-allelic mutations in the LDL Receptor pathway, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth and premature atherosclerotic cardiovascular disease (ASCVD). Our current knowledge about HoFH is disjointed and largely stems from relatively small case series and expert opinion. HICC (Homozygous FH International Clinical Collaborators) is a global consortium of clinicians who are contributing de-identified data of patients diagnosed with HoFH with the goal to advance our understanding of this rare disease.
Подробное описание
The HICC registry is an observational, multicenter, international registry collecting de-identified clinical and genetic information from patients with homozygous Familial Hypercholesterolemia (HoFH) worldwide.
Patients are eligible to be enrolled in the registry based on the diagnosis of HoFH by the treating clinician, irrespective of how the diagnosis was made. To generate up-to-date data reflecting current rather than historic practice, patients who died or were lost to follow-up prior to 2010 are excluded.
Anonymized data on demographics, type of HoFH diagnosis (clinical and/or based on the results of a genetic test), genetic results, (cardiovascular) medical history, relevant family history, physical examination, laboratory measurements, lipid lowering treatment and cardiovascular imaging are collected for 3 different time points: at diagnosis, at enrolment and at time of best lipid profile (if this is different from time at enrolment). Data are collected using pre-definite electronic case report forms to ensure uniformity of data collected. Primary analysis will be cross-sectional (e.g. based on country of residence, age, etc)
Вмешательства
- Другое Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide.
Первичные конечные точки
- Number of participants entered into the database [Срок оценки: Through study completion, an average of 8 years]
Вторичные конечные точки (1)
- Untreated and treated LDL-C levels across world income regions [Срок оценки: Through study completion, an average of 8 years]
Критерии участия
Критерии включения
- Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined
Критерии исключения
- No diagnosis of HoFH
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Только случаи
Центры проведения
ЮАР · 2 центра
- Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Res — Cape Town
- c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University — Johannesburg
США · 1 центр
- University of Pennsylvania — Philadelphia
Нидерланды · 1 центр
- Department of Vascular Medicine, Amsterdam UMC — Amsterdam
Публикации
- Mulder JWCM, Schonck WAM, Tromp TR, Reijman MD, Reeskamp LF, Hovingh GK, Blom DJ, Roeters van Lennep JE. Real-world family planning and pregnancy practices in women with homozygous familial hypercholesterolemia. Atherosclerosis. 2025 May;404:119187. doi: 10.1016/j.atherosclerosis.2025.119187. Epub 2025 Apr 3. PMID 40250039
- Tromp TR, Hartgers ML, Hovingh GK, Vallejo-Vaz AJ, Ray KK, Soran H, Freiberger T, Bertolini S, Harada-Shiba M, Blom DJ, Raal FJ, Cuchel M; Homozygous Familial Hypercholesterolaemia International Clinical Collaborators. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet. 2022 Feb 19;399(10326):719-728. doi: 10.1016/S0140-6736(21)02001-8. Epub 2022 PMID 35101175
Идентификаторы
NCT: NCT04815005 · HICC