Recruiting

Observational Study

Sponsor:

University of Pennsylvania

Code:

NCT04234724

Conditions

Hypocholesterolemia

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

Interventions

Kinetics test, oral fat tolerance test, and an oral glucose tolerance test.

Study Details

Brief summary:

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

Conditions

Hypocholesterolemia

Study ID

NCT04234724

Start date

Dec 1, 2020

Status verified date

Sep, 2025

Completion date

Jun 30, 2026

Anticipated

Primary completion date

Jun 30, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18+

Healthy Volunteers: Accepted

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 Design

Enrollment

50 participants

Anticipated

Allocation

Non randomized

Intervention Model

Parallel Assignment

Primary purpose

Other

Interventions and Outcome Measures

Arms

experimental: Variant

Volunteers with known ANGPTL3 variants

other: Non-variant

Healthy volunteers with no ANGPTL3 variants

Interventions

Kinetics 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.

Primary outcome measure

  • The role of ANGPTL3 on lipid metabolism. [ Time Frame: through study completion, an average of 13 weeks ]
  • The role of this protein on glucose metabolism. [ Time Frame: through study completion, an average of 13 weeks ]
  • The role of ANPTL3 on fatty acids [ Time Frame: through study completion, an average of 13 weeks ]

Central Contacts and Locations

Central contacts

Marina Cuchel, MD, PhD

215-662-7188mcuchel@pennmedicine.upenn.edu

Locations

University of Pennsylvania

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Lauren Vincent, MRA

215-615-5448

Principal Investigator:

Marina Cuchel, MD, PhD

More Information

Sponsor

University of Pennsylvania

Last update posted

Sep 10, 2025

Last verified

Sep, 2025

Keywords

  • Angiopoietin-like protein 3 deficiency
  • Lipid Metabolism

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by University of Pennsylvania on 2025-09-10.