Physiological Effects of ANGPTL3 Variants in Humans

Description

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

Conditions

Hypocholesterolemia

Study Overview

Study Details

Study overview

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

Physiological Effects of ANGPTL3 Variants in Humans

Physiological Effects of ANGPTL3 Variants in Humans

Condition
Hypocholesterolemia
Intervention / Treatment

-

Contacts and Locations

Philadelphia

University of Pennsylvania, Philadelphia, Pennsylvania, United States, 19104

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • * 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

Ages Eligible for Study

18 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

University of Pennsylvania,

Marina Cuchel, MD, PhD, PRINCIPAL_INVESTIGATOR, University of Pennsylvania

Study Record Dates

2025-06-30