RECRUITING

Physiological Effects of ANGPTL3 Variants in Humans

Conditions

Hypocholesterolemia Angiopoietin-like protein 3 deficiency Lipid Metabolism

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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

Official Title

Physiological Effects of ANGPTL3 Variants in Humans

Quick Facts

Study Start:2020-12-01

Study Completion:2025-06-30

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT04234724

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.

Ages Eligible for Study:18 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:Yes

Standard Ages:ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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

Inclusion Criteria

Exclusion 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

Contacts and Locations

Study Contact

Marina Cuchel, MD, PhD

CONTACT

215-662-7188

mcuchel@pennmedicine.upenn.edu

Principal Investigator

Marina Cuchel, MD, PhD

PRINCIPAL_INVESTIGATOR

University of Pennsylvania

Study Locations (Sites)

University of Pennsylvania

Philadelphia, Pennsylvania, 19104

United States

Collaborators and Investigators

Sponsor: University of Pennsylvania

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2020-12-01

Study Completion Date2025-06-30

Study Record Updates

Study Start Date2020-12-01

Study Completion Date2025-06-30

Terms related to this study

Keywords Provided by Researchers

Angiopoietin-like protein 3 deficiency
Lipid Metabolism

Additional Relevant MeSH Terms

Hypocholesterolemia