Hypocholesterolemia
Conditions
Keywords
Angiopoietin-like protein 3 deficiency, Lipid Metabolism
Brief summary
To evaluate the role of ANGPTL3, on lipid metabolism. To explore the role of this protein on glucose metabolism.
Detailed description
Oral fast tolerance test, lipoprotein kinetics and a glucose tolerance test to evaluate the role of ANGPTL3, on lipid metabolism and to explore the role of this protein on glucose metabolism.
Interventions
OTHERKinetics test, oral fat tolerance test, and an oral glucose tolerance test.
Subjects will participate in a kinetics test, oral fat tolerance test, and an oral glucose tolerance test.
Sponsors
National Heart, Lung, and Blood Institute (NHLBI)
University of Pennsylvania
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Subjects aged 18 or older meeting at least one of the following criteria 1. Carrying genetic variants in the gene encoding for ANGPTL3, 2. Unaffected controls matched for age, race, gender, 3. Willing to follow study procedures 4. Able to provide inform consent
Exclusion criteria
* Any medical or psychological conditions that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study, or confound the study data * Taking any medication that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study, or confound the study data * Women that are pregnant or nursing * History of liver disease or abnormal liver function tests (\>2x upper limit of normal) * History of kidney disease or chronic renal insufficiency (eGFR \<60 mL/min/1.73 m2) * Uncontrolled hypertension (\>160/100 mmHg) * Uncontrolled diabetes * Anemia (hemoglobin \<11.0 mg/dL) History of a non-skin malignancy within the previous 5 years Major surgery within the past 3 months * History of any organ transplant * History of alcohol or drug abuse * Participation in clinical trials assessing the efficacy and safety of drugs affecting lipid metabolism within the past 6 weeks (or longer depending on the known half-life of the drug) that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study, or confound the study data * Inability to comply to study procedures
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The role of ANGPTL3 on lipid metabolism. | through study completion, an average of 13 weeks | Assessing ApoB-containing lipoprotein fractional catabolic rate |
| The role of this protein on glucose metabolism. | through study completion, an average of 13 weeks | Looking for glucose area under the curve following Oral Glucose Tolerance Test |
| The role of ANPTL3 on fatty acids | through study completion, an average of 13 weeks | Looking for fatty acids area under the curve following Oral Fat Tolerance Test |
Countries
United States
Contacts
Primary ContactMarina Cuchel, MD, PhD
Outcome results
None listed