HypocholesterolemiaNCT04234724
Physiological Effects of ANGPTL3 Variants in Humans
A study testing Kinetics test, oral fat tolerance test, and an oral glucose tolerance test. in people with Hypocholesterolemia, run by University of Pennsylvania at 1 site in United States.
Trial summary
To evaluate the role of ANGPTL3, on lipid metabolism. To explore the role of this protein on glucose metabolism. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Hypocholesterolemia
- What is being tested?
- Kinetics test, oral fat tolerance test, and an oral glucose tolerance test.
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Dec 2020to 30 Jun 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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)
Show all 12Show fewer
- 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 locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
Lauren Vincent, MRA, 215-615-5448
Marina Cuchel, MD, PhD
About this study
To evaluate the role of ANGPTL3, on lipid metabolism. To explore the role of this protein on glucose metabolism.
Read the detailed 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.
- Conditions
- Hypocholesterolemia
- Being tested
- Kinetics test, oral fat tolerance test, and an oral glucose tolerance test.
- Keywords
- Angiopoietin-like protein 3 deficiency, Lipid Metabolism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
| Study group | Role | What they receive |
|---|---|---|
| Variant | Experimental | Volunteers with known ANGPTL3 variants Receives: Other: Kinetics test, oral fat tolerance test, and an oral glucose tolerance test. |
| Non-variant | Other | Healthy volunteers with no ANGPTL3 variants Receives: Other: Kinetics test, oral fat tolerance test, and an oral glucose tolerance test. |
What is being measured
The primary outcome is the main question the study is designed to answer.
The role of ANGPTL3 on lipid metabolism.
Assessing ApoB-containing lipoprotein fractional catabolic rate
Measured: 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
Measured: 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
Measured: through study completion, an average of 13 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jan 2020
- Study start1 Dec 2020
- Primary completion30 Jun 2026 (estimated)
- Study completion30 Jun 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HypocholesterolemiaStudies of the same condition, open and under way.
- More trials run by University of PennsylvaniaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Pennsylvania
- Sponsor type
- University, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Responsible party
- Sponsor
- Investigators
- Marina Cuchel, MD, PhD, Principal investigator, University of Pennsylvania
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04234724
- Sponsor's protocol ID
- 833684
- Other IDs
- R01HL148769
- Status last verified
- Sep 2025
- First submitted
- 4 Dec 2019
- Last updated
- 10 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Physiological Effects of ANGPTL3 Variants in Humans
- ClinicalTrials.gov ID
- NCT04234724
- Acronym / sponsor ID
- 833684
- Conditions
- Hypocholesterolemia
- Keywords
- Angiopoietin-like protein 3 deficiency, Lipid Metabolism
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- University of PennsylvaniaUniversity, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- 1 Dec 2020 (actual)
- Primary completion
- 30 Jun 2026 (estimated)
- Study completion
- 30 Jun 2026 (estimated)
- First posted
- 21 Jan 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
To evaluate the role of ANGPTL3, on lipid metabolism. To explore the role of this protein on glucose metabolism.
Detailed 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.
Study design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Variant | Experimental | Other: Kinetics test, oral fat tolerance test, and an oral glucose tolerance test.Volunteers with known ANGPTL3 variants |
| Non-variant | Other | Other: Kinetics test, oral fat tolerance test, and an oral glucose tolerance test.Healthy volunteers with no ANGPTL3 variants |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- Subjects aged 18 or older meeting at least one of the following criteria
Key exclusion criteria (12 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Kinetics test, oral fat tolerance test, and an oral glucose tolerance test.Subjects will participate in a kinetics test, oral fat tolerance test, and an oral glucose tolerance test. | Other | Non-variant, Variant |
Primary outcome
The role of ANGPTL3 on lipid metabolism.
Time frame: through study completion, an average of 13 weeks
Assessing ApoB-containing lipoprotein fractional catabolic rate
The role of this protein on glucose metabolism.
Time frame: through study completion, an average of 13 weeks
Looking for glucose area under the curve following Oral Glucose Tolerance Test
The role of ANPTL3 on fatty acids
Time frame: through study completion, an average of 13 weeks
Looking for fatty acids area under the curve following Oral Fat Tolerance Test
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Sep 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Marina Cuchel, MD, PhD principal investigator
University of Pennsylvania
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Kinetics test, oral fat tolerance test, and an oral glucose tolerance test. in people with Hypocholesterolemia, run by University of Pennsylvania at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 10 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Marina Cuchel, MD, PhD (215-662-7188, mcuchel@pennmedicine.upenn.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The role of ANGPTL3 on lipid metabolism. (time frame: through study completion, an average of 13 weeks). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Sep 2025.