Physiological Effects of ANGPTL3 Variants in Humans

NCT ID: NCT04234724

Last Updated: 2025-09-10

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 50 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2020-12-01
• Study Completion Date: 2026-06-30

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.

Conditions

Hypocholesterolemia

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

Variant

Volunteers with known ANGPTL3 variants

Group Type: EXPERIMENTAL

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

Intervention Type: OTHER

Subjects will participate in a kinetics test, oral fat tolerance test, and an oral glucose tolerance test.

Non-variant

Healthy volunteers with no ANGPTL3 variants

Group Type: OTHER

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

Intervention Type: OTHER

Subjects will participate in a kinetics test, oral fat tolerance test, and an oral glucose tolerance test.

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.

Intervention Type: OTHER

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role: collaborator

University of Pennsylvania

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Marina Cuchel, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

University of Pennsylvania

Locations

University of Pennsylvania

Philadelphia, Pennsylvania, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Marina Cuchel, MD, PhD

Role: CONTACT

mcuchel@pennmedicine.upenn.edu

215-662-7188

Facility Contacts

Lauren Vincent, MRA

Role: primary

215-615-5448

Provided Documents

Document Type: Informed Consent Form

View Document

Other Identifiers

R01HL148769

Identifier Type: NIH

Identifier Source: secondary_id

View Link

833684

Identifier Type: -

Identifier Source: org_study_id