Effects of ANGPTL3 Variants on Lipid and Glucose Metabolism

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study evaluates the role of ANGPTL3, a protein involved in lipid metabolism, by conducting oral fat tolerance tests and glucose tolerance tests. Participants will include individuals with genetic variants in the ANGPTL3 gene and matched unaffected controls. The study aims to understand how these variants affect lipid and glucose metabolism, which could have implications for managing conditions like hypocholesterolemia.

Why it matters

Who can join: the full rules

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

Where it's running

• University of Pennsylvania
  Philadelphia, Pennsylvania, United States Recruiting

Study contacts

• Principal investigator: Marina Cuchel, MD, PhD — University of Pennsylvania
• Study coordinator: Marina Cuchel, MD, PhD
• Email: mcuchel@pennmedicine.upenn.edu
• Phone: 215-662-7188

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Screening for ASMD in people with diffuse interstitial lung disease

  This study tests a screening algorithm to see if people with diffuse ILD, who may have ASMD, actually have the disease by measuring acid sphingomyelinase activity and LysoSM in a 200-person cohort.

  Recruiting Groupe Hospitalier Diaconesses Croix Saint-Simon · Paris · NCT06869499

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.