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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
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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
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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
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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
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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
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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
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