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Physiological Effects of ANGPTL3 Variants in Humans

University of Pennsylvania · with National Heart, Lung, and Blood Institute (NHLBI) · NCT04234724

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 18+ · All sexes
Healthy volunteers
Accepted
Study type
Interventional · Not applicable
Target enrollment
50
US sites recruiting
1
Study start
December 1, 2020
Record last updated
September 10, 2025

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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

Being studied: Kinetics test, oral fat tolerance test, and an oral glucose tolerance test.

Conditions: Hypocholesterolemia

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

Inclusion Criteria

  • Subjects aged 18 or older meeting at least one of the following criteria
  • Carrying genetic variants in the gene encoding for ANGPTL3,
  • Unaffected controls matched for age, race, gender,
  • Willing to follow study procedures
  • 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

Recruiting US locations

  • University of Pennsylvania

    Philadelphia, PA 19104

    Site contact: Lauren Vincent, MRA · 215-615-5448

Study contacts (from the official record)

  • Marina Cuchel, MD, PhD · 215-662-7188 · mcuchel@pennmedicine.upenn.edu
Physiological Effects of ANGPTL3 Variants in Humans (NCT04234724) | Bored Studies