Natural History of Uncommon Dyslipidemias, Rare Lipid Disorders and Unusual Atherosclerotic Conditions

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

• 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.