Screening for Hypercholesterolemia in Children Using Dried Blood Spot

NCT05191355 | Completed

• 2 other identifiers: 69HCL21_01782021-A02907-34
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 2

Brief Summary

Purpose: Heterozygous Familial Hypercholesterolemia (HeFH) is a common genetic disease responsible for premature atherosclerosis. Therefore, early diagnosis and initiation of a treatment early as at the age of eight years old are recommended to reduce cardiovascular risk. Child-parent screening based on plasma LDL-cholesterol has been proposed to identify patients with hypercholesterolemia. However, in children, venipuncture is often an obstacle for screening. This study aims to evaluate the performance and feasibility of a dried blood spot collection to screen hypercholesterolemia. Method: The lipid profile of 30 healthy and 30 hypercholesterolemic patients will be determined using Dried Blood Spot (DBS) collection and veinipuncture. The study is conducted in accordance with the principles of the Declaration of Helsinki. The children, their parents and patients will be informed about this study according to the French bioethics law and will be included only after their agreement Hypothesis

• to evaluate the performance of the determination of total and LDL-cholesterol using a dried blood spot collection to screen hypercholesterolemia
• to evaluate the feasibility of a dried blood spot collection to screen hypercholesterolemia

Conditions

Hypercholesterolemia

Keywords

Hypercholesterolemia, Familial; Pediatrics

Outcome Measures

Primary Outcomes (1)

• Comparison of lipid profile (total cholesterol, LDL cholesterol concentrations) between venous blood and blotter method for sampling

  study of the feasibility and accuracy of the blotter method to screen hypercholesterolemia

  Day 0

Study Arms (2)

subjects with familial hypercholesterolemia

blood test

Biological: blood test

healthy subjects

blood test

Biological: blood test

Interventions

blood test BIOLOGICAL

Blood spot collection for sampling

healthy subjects; subjects with familial hypercholesterolemia

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Children and adults with heterozygous familial hypercholesterolemia and healthy subjects

You may qualify if:

• patients/kindreds in family with a documented history of hypercholesterolemia
• healthy subjects for controls

You may not qualify if:

• refusal to participate in the study
• For control patients: to have a known dyslipidemia

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (2)

Hospices Civils de Lyon, Dept of Endocrinology

Bron, 69500, France

Location

Hospices Civils de Lyon, Service d'Hépatologie et de Gastro-Entérologie et Nutrition Pédiatrique

Bron, 69500, France

Location

MeSH Terms

Conditions

Hypercholesterolemia; Hyperlipoproteinemia Type II

Interventions

Hematologic Tests

Condition Hierarchy (Ancestors)

Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Study Officials

• Noël PERETTI, MD

  Hospices Civils de Lyon

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 30, 2021
• First Posted: January 13, 2022
• Study Start: May 18, 2022
• Primary Completion: February 28, 2023
• Study Completion: February 28, 2023
• Last Updated: September 1, 2023

Record last verified: 2023-08

Locations

FR (2)