Natural History of Uncommon Dyslipidemias, Rare Lipid Disorders and Unusual Atherosclerotic Conditions
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,500
- 试验地点
- 1
- 主要终点
- Change overtime in low-density lipoprotein cholesterol (LDL-C).
研究概览
简要总结
Background:
The right amount of fats in the blood (cholesterol and triglycerides) are a key part of a healthy organism. Too much or too little of these fats may manifest as diseases (dyslipidemia). There are many causes for these abnormalities, but some are genetically determined and we would like to better understand the progression of these conditions over time.
Objective:
This natural history study aims to learn more about dyslipidemias; how they change over time; and how they respond to therapy. We also want to develop new diagnosis methods for these conditions. With the knowledge we will acquire we hope to provide new insights, new approaches and improve the overall health of these patients.
Eligibility:
Individuals aged 10 years and older, residing both within and outside the United States, who have or are suspected of having a disorder that causes changes in the levels of fats in their blood (genetic dyslipidemias).
Design:
Participants residing within and outside the United States will be screened. Their medical records may be reviewed. They may talk to researchers about their medical history by phone, telehealth, or in person.
All study visits are optional. Participants may visit the NIH up to 15 times per year, if needed.
Each visit may include a physical exam and blood tests. Participants may also have an electrocardiogram (EKG). The EKG measures the electrical activity when the heart beats.
In some cases, participants may remain in the study for up to 20 years.
详细描述
Study Description:
This clinical research project is designed as a rare primary lipid disorder patient observational study that will utilize conventional and virtual (TeleHealth) medicine. This study will accept patients from the U.S. and abroad, will utilize current approved regulatory approaches to receive patient data, specimens, and share information with patients or their healthcare providers.
Objectives:
-Primary objective:
To improve understanding of rare or uncommon or acquired primary lipid disorders, evolution of such conditions, and response to therapies among the participants enrolled onto this study based upon LDL-C and other lipids or lipoproteins over time.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 10 Years 至 90 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •INCLUSION CRITERIA:
- •Affected Participants
- •Male and female participants age >= 10 years.
- •Subjects with confirmed or suspected rare disorder that causes lipid/lipoprotein abnormalities (dyslipidemia) or abnormal documented or referred atherosclerosis patterns.
- •Only affected individuals (not healthy volunteers and for self-referred subjects independent of lipid and lipoprotein marker values.); subjects with laboratory or clinical presentation that in the opinion of the Principal Investigator, would alter the determination of normal
- •parameters for assays and screening tools development.
- •Ability of the subject or Legally Authorized Representative (LAR) to understand and willingness to sign a written informed consent document.
- •Healthy Volunteers
- •Participants must be healthy, with no known history of lipid disorders or related medical conditions.
- •Participants must not be pregnant.
排除标准
- •Patients with disorders that cause common secondary/lipoprotein alterations.
- •Patients with any other findings that, in the opinion of the Principal Investigator, would preclude them from participating in the study.
研究组 & 干预措施
Patients diagnosed with rare primary lipid disorders.
Male and female participants with rare primary lipid disorders ages 10 and older.
结局指标
主要结局
Change overtime in low-density lipoprotein cholesterol (LDL-C).
时间窗: up to 20 years
To observe change overtime in low-density lipoprotein cholesterol (LDL-C).
次要结局
- Change overtime in high-density lipoprotein cholesterol (HDL-C)(up to 20 years)
- Change overtime in triglycerides(up to 20 years)
- Change overtime in lipid markers of dyslipidemia and cardiovascular risk.(up to 20 years)