Physiological Effects of ANGPTL3 Variants in Humans

NCT04234724 | Recruiting

• 2 other identifiers: 833684R01HL148769
• Study Type: interventional
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Hypocholesterolemia

Keywords

Angiopoietin-like protein 3 deficiency; Lipid Metabolism

Outcome Measures

Primary Outcomes (3)

• The role of ANGPTL3 on lipid metabolism.

  Assessing ApoB-containing lipoprotein fractional catabolic rate

  through study completion, an average of 13 weeks

• The role of this protein on glucose metabolism.

  Looking for glucose area under the curve following Oral Glucose Tolerance Test

  through study completion, an average of 13 weeks

• The role of ANPTL3 on fatty acids

  Looking for fatty acids area under the curve following Oral Fat Tolerance Test

  through study completion, an average of 13 weeks

Study Arms (2)

Variant

EXPERIMENTAL

Volunteers with known ANGPTL3 variants

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

Non-variant

OTHER

Healthy volunteers with no ANGPTL3 variants

Other: 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. OTHER

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

Non-variant; Variant

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Pennsylvania: lead
• National Heart, Lung, and Blood Institute (NHLBI): collaborator

Study Sites (1)

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Study Officials

• Marina Cuchel, MD, PhD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marina Cuchel, MD, PhD

CONTACT

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

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 4, 2019
• First Posted: January 21, 2020
• Study Start: December 1, 2020
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): June 30, 2026
• Last Updated: September 10, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)