About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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
Participants must be healthy, with no known history of lipid disorders or related medical conditions.
Disqualifiers
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.
Trial population
Individuals with rare and/or unusual lipid disorders residing both within and outside the United States
Trial design
Other
Prospective
Treatments tested in this trial
Not listed
Trial groups
Trial outcomes
Primary outcomes
Change overtime in low-density lipoprotein cholesterol (LDL-C).
To observe change overtime in low-density lipoprotein cholesterol (LDL-C).
Secondary outcomes
Change overtime in high-density lipoprotein cholesterol (HDL-C)
To observe the changes overtime in in high-density lipoprotein cholesterol (HDL-C)
Change overtime in triglycerides
To observe the changes overtime in triglycerides
Change overtime in lipid markers of dyslipidemia and cardiovascular risk.
To observe the changes overtime in lipid markers of dyslipidemia and cardiovascular risk.
Sponsors and contacts
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