Scientists study rare gene variants to unlock secrets of cholesterol and blood sugar
NCT ID NCT04234724
First seen Jun 26, 2026 · Last updated Jun 26, 2026
Summary
This study looks at how natural genetic variations in the ANGPTL3 gene affect the way the body handles fats and sugars. Researchers will compare people with these gene variants to matched controls using special tests like fat and glucose tolerance tests. The goal is to better understand the role of ANGPTL3 in metabolism, which could inform future treatments for cholesterol and diabetes.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this research could help scientists understand how ANGPTL3 controls cholesterol and blood sugar, potentially pointing toward new treatments for high cholesterol or diabetes.
- What could go wrong
- This is an early observational study with only 50 participants, so findings may not apply broadly. It does not test any treatment, so no direct health benefit for participants.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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About 50 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Dec 2020
- Expected to finish
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Jun 2026
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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University of Pennsylvania
RECRUITINGPhiladelphia, Pennsylvania, 19104, United States