6 studies
5 sponsors
1 condition

Sponsor Condition of Interest
Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)
Essentia Health Familial Hypercholesterolemia Cholesterol, Elevated Genetic Disease
The overall goal of this study is to promote awareness of Familial Hypercholesterolemia (FH). The investigators aim to enroll patients with suspected FH into the study and will randomize them to receive usual care or motivational interview. Primary study outcomes include knowledge... expand

The overall goal of this study is to promote awareness of Familial Hypercholesterolemia (FH). The investigators aim to enroll patients with suspected FH into the study and will randomize them to receive usual care or motivational interview. Primary study outcomes include knowledge of FH, as well as clinical and patient-reported outcomes. This study aims to promote optimal disease management and improve outcomes of FH patients.

Type: Interventional

Start Date: Feb 2022

open study

Liver Adiposity Effects on Pediatric Statin
Children's Mercy Hospital Kansas City Cholesterol; Lipidosis
Single center, open-label, prospective investigation to quantify the effects hepatocellular fat has on hepatic statin transport and response in children and adolescents in obese and non-obese children and adolescents 8-21 years of age with normal, wild-type SLCO1B1 c.521TT... expand

Single center, open-label, prospective investigation to quantify the effects hepatocellular fat has on hepatic statin transport and response in children and adolescents in obese and non-obese children and adolescents 8-21 years of age with normal, wild-type SLCO1B1 c.521TT genotype that are dosed rosuvastatin

Type: Interventional

Start Date: Apr 2021

open study

Positron Emission Tomography (PET) Imaging of Cholesterol Trafficking: Clinical Evaluation of [18F]FNP-59...
Benjamin Viglianti Radiotracer Hypertension Cholesterol
This study will evaluate the feasibility of using a sub-therapeutic dose of a fluorine-18 analogue of NP-59 ([18F]FNP-59) to image the adrenal gland. Some participants are healthy normal subjects but have undergone interventions to manipulate hormones while other participants... expand

This study will evaluate the feasibility of using a sub-therapeutic dose of a fluorine-18 analogue of NP-59 ([18F]FNP-59) to image the adrenal gland. Some participants are healthy normal subjects but have undergone interventions to manipulate hormones while other participants have known adrenal pathology.

Type: Interventional

Start Date: Nov 2021

open study

Positron Emission Tomography (PET) Imaging of Cholesterol Trafficking: Clinical Evaluation of [18F]FNP-59...
Benjamin Viglianti Radiotracer Hypertension Cholesterol
This exploratory, first-in-man, phase 0 study will evaluate the feasibility of using a sub-therapeutic dose of a fluorine-18 analogue of NP-59 ([18F]FNP-59) to image the adrenal gland in healthy normal subjects. The researchers believe that [18F]FNP-59 would greatly improve... expand

This exploratory, first-in-man, phase 0 study will evaluate the feasibility of using a sub-therapeutic dose of a fluorine-18 analogue of NP-59 ([18F]FNP-59) to image the adrenal gland in healthy normal subjects. The researchers believe that [18F]FNP-59 would greatly improve the imaging characteristics, by providing a PET imaging cholesterol analogue with significantly improved radiation dosimetry.

Type: Interventional

Start Date: Jan 2021

open study

Extreme Lipids Repository
University of Texas Southwestern Medical Center Lipoprotein Disorder
This is a prospective, observational study to establish a repository of samples from patients with extreme lipid phenotypes including but not limited to hyperlipidemia, dyslipidemia, hyperlipoproteinemia, extreme low/high HDL levels and deranged lipoprotein metabolism. The... expand

This is a prospective, observational study to establish a repository of samples from patients with extreme lipid phenotypes including but not limited to hyperlipidemia, dyslipidemia, hyperlipoproteinemia, extreme low/high HDL levels and deranged lipoprotein metabolism. The investigators plan to conduct sophisticated composition and functional analyses as well as genetic analysis to better understand the determinants of extreme lipid derangements.

Type: Observational [Patient Registry]

Start Date: May 2019

open study

Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol...
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Smith Lemli Opitz Syndrome CHILD Syndrome Lathosterolosis Desmosterolosis
Background: Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage. The data gained in this study may help researchers... expand

Background: Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage. The data gained in this study may help researchers find ways to measure how well future treatments work. Objective: To learn more about SLOS and related disorders and how these diseases affect participants and relatives. Eligibility: People of any age who have or are suspected to have SLOS or another inherited disease related to cholesterol production or storage. Relatives are also needed. Design: Participants will be screened with a medical record review. Participants will have visits every 6 to 12 months. They will have a physical exam. They will fill out a survey about their medical and behavioral history. They may have an eye exam. They may have a neurodevelopmental assessment. They may have a hearing test. Their outer and middle ears may be examined. Their ability to speak, understand speech, eat, and swallow may be assessed. They may get X-rays while they chew and swallow. Their functional ability and needs for adaptive devices or braces may be assessed. They may have a lumbar puncture. Photographs may be taken of their face and body. Participants who cannot visit the NIH and relatives will have a virtual visit once a year. They will talk about their medical history and symptoms. They give blood, urine, and skin samples at a lab near their home. They will fill out a survey about their medical and behavioral history. Participation will last for several years.

Type: Observational

Start Date: Jun 2021

open study