Developing and Implementing Familial Hypercholesterolemia Registry
Developing and Implementing Familial Hypercholesterolemia Registry in Isfahan, Iran: Cascade Screening, Management and Long-term Follow up.
研究概览
详细说明
Familial hypercholesterolemia (FH) is a genetic disorder define as high cholesterol levels, particularly very high levels of low-density lipoprotein (LDL), in the blood and early cardiovascular disease and premature death. FH is an autosomal dominant disease with a prevalence 1:500 (new study in Netherlands demonstrated 1:244) in population more frequent than Cystic fibrosis, mellitus diabetes or neonatal hypothyroidism. Canadian registry demonstrated FH is more common among people if French Canadian, Christian Lebanese, and Afrikaner descent. The Major causes of FH are pathogenic variant in the LDL-receptor (LDLR) gene or the Apo lipoprotein B (APOB) gene. The clinical signs of FH are high level of Cholesterol (between 350-550 mg/dL in heterozygous), Yellow deposits of cholesterol-rich fat in various places on the body such as around the eyelids (known as xanthelasma palpebrarum), the outer margin of the iris (known as arcus senilis corneae), and in the tendons of the hands, elbows, knees and feet, particularly the Achilles tendon (known as a tendon xanthoma). FH is a hidden syndrome which leads to cardiovascular disease.
After introducing the statins total mortality have reduced significantly in these patients. Thus screening and identification of patients and treatment with the most effective therapies will decrease the risk of premature death.
Also, most of patients require an appropriate lipid-lowering medications. Although the genetic problem is the most important factor to expression of FH other factors like environmental and metabolic factor can be effective in CVD and premature death.
Therefore, identification and follow-up FH patients is important for CVD Rate cuts and decrease Treatment costs thus this study can gain these outcomes.
研究类型
注册 (预期的)
联系人和位置
学习地点
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Isfahan、伊朗伊斯兰共和国
- 招聘中
- Isfahan Cardio vascular Research Institute
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首席研究员:
- Nizal Sarrafzadegan, MD
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接触:
- Mohammad reza Sabri, MD
- 电话号码:0098 03136682736
- 邮箱:sabrimrs@gmail.com
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首席研究员:
- Sina Arabi, Medical Student
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首席研究员:
- Shaghayegh Haghjoo, PhD
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首席研究员:
- Golnaz Vaseghi, PhD
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首席研究员:
- Mozhgan Gharipour, PhD
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参与标准
资格标准
适合学习的年龄
接受健康志愿者
有资格学习的性别
取样方法
研究人群
描述
Inclusion Criteria:
Personal concentration of LDL-C > 190 mg/dL or LDL-C > 120 mg/dL in Treatment Group.
Family and/or personal history of premature heart disease.
Exclusion Criteria:
Hyperlipidemia with underlying disorders.
学习计划
研究是如何设计的?
设计细节
研究衡量的是什么?
主要结果指标
结果测量 |
大体时间 |
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Number of Patients with FH.
大体时间:1 Year
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1 Year
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次要结果测量
结果测量 |
大体时间 |
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Number of premature cardio vascular events annually follow-up.
大体时间:5 Years
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5 Years
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Low Density Lipoprotein (LDL-C) at base line and during annually follow-up.
大体时间:1 Year
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1 Year
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High density lipoprotein (HDL) at base line and during annually follow-up.
大体时间:1 Year
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1 Year
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triglyceride (TG) at base line and during annually follow-up.
大体时间:1 Year
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1 Year
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LDL-receptor frequency of mutation in Persian population.
大体时间:1 Year
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1 Year
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PCSK9 frequency of mutation in Persian population.
大体时间:1 Year
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1 Year
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Apo-B frequency of mutation in Persian population.
大体时间:1 Year
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1 Year
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合作者和调查者
研究记录日期
研究主要日期
学习开始
初级完成 (预期的)
研究完成 (预期的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (估计)
研究记录更新
最后更新发布 (估计)
上次提交的符合 QC 标准的更新
最后验证
更多信息
与本研究相关的术语
其他相关的 MeSH 术语
其他研究编号
- FH-ICRI
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