DyslipidemiaNCT06676046
Natural History of Uncommon Dyslipidemias, Rare Lipid Disorders and Unusual Atherosclerotic Conditions
An observational study of Dyslipidemia and Atherosclerosis, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 10 to 90 years
- Conditions the study is for
- Dyslipidemia, Atherosclerosis
- How many people
- 1,500 participants
- Where
- 1 siteUnited States
- Study dates
- 15 Jan 2025to 24 Nov 2044
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 to 90 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with rare and/or unusual lipid disorders residing both within and outside the United States
Who may be able to join
- 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.
Show all 9Show fewer
- Healthy Volunteers
- Participants must be healthy, with no known history of lipid disorders or related medical conditions.
- Participants must not be pregnant.
Who cannot join
- 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 locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
NIH Clinical Center Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
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.
Read more
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.
Read the 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
- Conditions
- Dyslipidemia, Atherosclerosis
- Keywords
- Uncommon Dyslipidemias, Rare Lipid Disorders, Unusual Atherosclerotic Conditions, Lipoproteins, Atherosclerosis, TRIGLYCERIDES
- Medical subject headings
- Dyslipidemias, Atherosclerosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients diagnosed with rare primary lipid disorders. | Male and female participants with rare primary lipid disorders ages 10 and older. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change overtime in low-density lipoprotein cholesterol (LDL-C).
To observe change overtime in low-density lipoprotein cholesterol (LDL-C).
Measured: up to 20 years
Secondary outcomes (3)
Change overtime in high-density lipoprotein cholesterol (HDL-C)
To observe the changes overtime in in high-density lipoprotein cholesterol (HDL-C)
Measured: up to 20 years
Change overtime in triglycerides
To observe the changes overtime in triglycerides
Measured: up to 20 years
Change overtime in lipid markers of dyslipidemia and cardiovascular risk.
To observe the changes overtime in lipid markers of dyslipidemia and cardiovascular risk.
Measured: up to 20 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Nov 2024
- Study start15 Jan 2025
- Primary completion24 Nov 2044 (estimated)
- Study completion24 Nov 2044 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DyslipidemiaStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 1,500 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Marcelo J Amar, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06676046
- Sponsor's protocol ID
- 10001933
- Other IDs
- 001933-H
- Status last verified
- 13 Mar 2026
- First submitted
- 5 Nov 2024
- Last updated
- 23 Mar 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: All individual participant data (IPD) that underpin the results presented in a publication will be made available.
Study at a glance
From the registry record, last updated by the sponsor on 23 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Uncommon Dyslipidemias, Rare Lipid Disorders and Unusual Atherosclerotic Conditions
- ClinicalTrials.gov ID
- NCT06676046
- Acronym / sponsor ID
- 10001933
- Conditions
- Dyslipidemia, Atherosclerosis
- Keywords
- Uncommon Dyslipidemias, Rare Lipid Disorders, Unusual Atherosclerotic Conditions, Lipoproteins, Atherosclerosis, TRIGLYCERIDES
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,500 participants (estimated)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 15 Jan 2025 (actual)
- Primary completion
- 24 Nov 2044 (estimated)
- Study completion
- 24 Nov 2044 (estimated)
- First posted
- 6 Nov 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients diagnosed with rare primary lipid disorders. | – | –Male and female participants with rare primary lipid disorders ages 10 and older. |
Who may qualify
- Ages
- 10 to 90 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with rare and/or unusual lipid disorders residing both within and outside the United States
Key inclusion criteria (9 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change overtime in low-density lipoprotein cholesterol (LDL-C).
Time frame: up to 20 years
To observe change overtime in low-density lipoprotein cholesterol (LDL-C).
3 secondary outcomes
Change overtime in high-density lipoprotein cholesterol (HDL-C)
Time frame: up to 20 years
Change overtime in triglycerides
Time frame: up to 20 years
Change overtime in lipid markers of dyslipidemia and cardiovascular risk.
Time frame: up to 20 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Mar 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. All individual participant data (IPD) that underpin the results presented in a publication will be made available.
Related trials for Dyslipidemia
Active, not recruitingObservational study
Study Evaluating LDL-C Change and Adherence to Inclisiran Lipid-lowering Therapy in ASCVD
Primary Hypercholesterolemia, Mixed Dyslipidemia
Not yet recruiting
Plasma Lipids-Dependent Vitamin E Metabolism During Dynamic Hyperlipidemia
Lipid Metabolism Disorders
Active, not recruitingObservational study
A Longitudinal Cohort Study to Evaluate Cardiovascular Risk Factors and Disease in Haiti
Hypertension, Diabetes
Active, not recruiting
Developing a Learning COmmunity to Increase eNgagemeNt and Enrollment in Cardiovascular Clinical Trials (CONNECT)
Cardiovascular Diseases, Hypertension
Active, not recruitingPhase 3
A Study of Inclisiran to Prevent Cardiovascular Events in High-risk Primary Prevention Patients.
Primary Prevention of Atherosclerotic Cardiovascular Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Marcelo J Amar, M.D. principal investigator
National Heart, Lung, and Blood Institute (NHLBI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Dyslipidemia and Atherosclerosis, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 23 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Joy Lynne V Freeman ((301) 480-7632, joylynne.freeman@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change overtime in low-density lipoprotein cholesterol (LDL-C). (time frame: up to 20 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Mar 2026.