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Physiological Effects of ANGPTL3 Variants in Humans

Physiological Effects of ANGPTL3 Variants in Humans

Recruiting
18 years and older
All
Phase N/A

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Overview

To evaluate the role of ANGPTL3, on lipid metabolism. To explore the role of this protein on glucose metabolism.

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.

Eligibility

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

Study details
    Hypocholesterolemia

NCT04234724

University of Pennsylvania

14 May 2026

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