Physiological Effects of ANGPTL3 Variants in Humans

University of Pennsylvania

Status: Enrolling

Conditions: Hypocholesterolemia

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

Study type: Interventional

Funder types: Other; NIH

Identifiers

NCT04234724

833684

R01HL148769 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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

Full 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.

Enrollment: 50 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion 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

Trial design

Primary purpose: Other

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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50 participants in 2 patient groups

Variant

Experimental group

Description:

Volunteers with known ANGPTL3 variants

Treatment:

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

Non-variant

Other group

Description:

Healthy volunteers with no ANGPTL3 variants

Treatment:

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