Clinical trial NCT06676046: Natural History of Uncommon Dyslipidemias, Rare Lipid Disorders and Unusual Atherosclerotic Conditions
Official title: Natural History of Uncommon Dyslipidemias, Rare Lipid Disorders and Unusual Atherosclerotic Conditions
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Dyslipidemia
Atherosclerosis
Keywords: Uncommon Dyslipidemias
Rare Lipid Disorders
Unusual Atherosclerotic Conditions
Lipoproteins
Atherosclerosis
TRIGLYCERIDES
Lead sponsor: National Institutes of Health Clinical Center (CC)
Sponsor class: NIH
First posted: 2024-11-06
Enrollment: 1500
Sex: ALL
Minimum age (years): 10
Maximum age (years): 90
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with rare and/or unusual lipid disorders residing both within and outside the United States

Brief summary: 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 will 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. Stickers attached to wires will be placed on participants legs, arms, and chest. They will lie still for about 5 minutes.

In some cases, participants may remain in the study for up to 20 years.

Detailed description: 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.

-Secondary objective:

To improve understanding of how HDL-C, triglycerides, other lipid markers of dyslipidemia, and cardiovascular (CV) risk impact rare or uncommon or acquired primary lipid disorders, and response to therapies over time.

-Tertiary/Exploratory objectives:

Changes in nuclear magnetic resonance spectroscopy lipoprotein fractioning parameters, genetic markers, efflux rate, and other parameters related with CV risk.

* To study lipid and cardiovascular risk markers throughout pregnancy
* To develop new assays and screening tools for these rare, unusual and uncommon conditions.

Endpoints:

* Primary endpoints: Observe the changes in LDL-C overtime
* Secondary endpoints: Observe the changes in HDL-C, triglycerides, and other lipid markers of dyslipidemia and CV risk.
* Tertiary/Exploratory endpoints:

Observe changes in LDL-p, LDL-z, HDL-p, HDL-z, ApoA-I levels, ApoB levels, efflux rate. Observe known genetic markers associated with rare lipid disorders. Develop new assays or screening tools.

Observe changes in LDL-p, LDL-z, HDL-p, HDL-z, ApoA-I levels, ApoB levels, efflux rate, hs-CRP during pregnancy

Eligibility criteria: * 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.

EXCLUSION CRITERIA:

* 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.

Primary outcomes:
measure: Change overtime in low-density lipoprotein cholesterol (LDL-C).
timeFrame: up to 20 years
Secondary outcomes:
measure: Change overtime in high-density lipoprotein cholesterol (HDL-C)
timeFrame: up to 20 years
measure: Change overtime in triglycerides
timeFrame: up to 20 years
measure: Change overtime in lipid markers of dyslipidemia and cardiovascular risk.
timeFrame: up to 20 years
Other outcomes:
Locations:
city: Bethesda
country: United States
facility: National Institutes of Health Clinical Center
state: Maryland
Study officials:
affiliation: National Heart, Lung, and Blood Institute (NHLBI)
name: Marcelo J Amar, M.D.
role: PRINCIPAL_INVESTIGATOR
References: