Early Detection of Familial Hypercholesterolemia in Children

NCT04370899 | Recruiting DMC

• 1 other identifier: 176/2018
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 2

Brief Summary

Heterozigous FH is an underdiagnosed disease in the paediatric population. Its early detection, would allow us to initiate lifestyle therapeutical changes and early pharmacological therapy if necessary. This is a key fact to reduce atherosclerosis progression and cardiovascular risk in adulthood. Moreover, it will allow, detecting the first and second degree affected relatives.

Conditions

Familial Hypercholesterolemia; Familial Hypercholesterolemia - Heterozygous; Familial Hypercholesterolemia - Homozygous

Keywords

Familial Hypercholesterolemia; Childhood; cardiovascular risk; lifestyle assessment; genetic disorder; LDL cholesterol

Outcome Measures

Primary Outcomes (1)

• Number the children detected of FH

  The main result of the study is to increase the number of children affected by FH, as well as to detect their families.

  From date of randomization until the date of first documented progression, assessed up to 10 years.

Secondary Outcomes (2)

• LDL-cholesterol level (mg/dl) at entry and at follow-up

  every year, up to 10 years

• Healthy habits of population

  every year, up to 10 years

Study Arms (2)

Familial hypercholesterolaemia children

FH diagnostic criteria were as follows: a positive genetic test or, if no genetic test results were available, LDL-C \>160 mg/dL and one parent with a DLCN score \>8.

Other: lifestyle assessment

Unaffected children

The children evaluated for suspected FH who did not meet the FH criteria were included in the non-FH control group

Other: lifestyle assessment

Interventions

lifestyle assessment OTHER

A semi-quantitative assessment of the consumption of different food groups will be carried out using a frequency questionnaire validated by the Spanish population27. This questionnaire consists of 137 food items and will be obtained by the dietitian of our Unit (see annex). The child population and/or their parents will be instructed on how to fill the data in the food diary for a period of 3 days, in order to be able to analyse the nutritional composition of the intake and the effect on the lipid profile. The first food register, will be obtained at the collection visit before starting any type of treatment. Another food diary will be included after one year. Physical activity will be collected from the Minnesota Test and we will ask about the consumption of tobacco.

Familial hypercholesterolaemia children; Unaffected children

Eligibility Criteria

• Age: 2 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Children between 2 and 18 years of age who have a LDL-C level above 135 mg/dL.

You may qualify if:

• Children between 2 and 18 years of age.
• LDL-C level above 135 mg/dL
• Previously, the pediatrician will have discarded secondary causes (hypercholesterolaemia such as hypothyroidism, nephrotic syndrome, diabetes, renal insufficiency).
• After confirmation that one of the parents has a genetic mutation (Lipoxip/Liponext) or clinical diagnosis (DLCN ≥ 8), the child will be studied. The progenitor with hypercholesterolemia will be considered as an index case, in this way we will demonstrate the vertical transmission of the genetic disease.

You may not qualify if:

• The child population under 2 and over the age of 18 and children.
• Children with high cholesterol but by secondary causes.

Sponsors & Collaborators

• Institut Investigacio Sanitaria Pere Virgili: lead

Study Sites (2)

Hospital Universitari Sant Joan de Reus

Reus, Tarragona, 43440, Spain

RECRUITING

Hospital Universitari Sant Joan

Reus, Tarragona, 43440, Spain

RECRUITING

Related Publications (5)

• Plana N, Rodriguez-Borjabad C, Ibarretxe D, Masana L. Familial hypercholesterolemia in childhood and adolescents: A hidden reality. Clin Investig Arterioscler. 2017 May-Jun;29(3):129-140. doi: 10.1016/j.arteri.2016.11.002. Epub 2017 Apr 5. English, Spanish.

  PMID: 28390853 BACKGROUND

• Rodriguez-Borjabad C, Malo AI, Ibarretxe D, Girona J, Heras M, Ferre R, Feliu A, Salvado M, Varela A, Amigo N, Masana L, Plana N; DECOPIN Group; DECOPIN GROUP Investigators who have participated in patient recruitment. Efficacy of therapeutic lifestyle changes on lipid profiles assessed by NMR in children with familial and non-familial hypercholesterolemia. Clin Investig Arterioscler. 2020 Mar-Apr;32(2):49-58. doi: 10.1016/j.arteri.2019.10.001. Epub 2020 Jan 29. English, Spanish.

  PMID: 32005605 RESULT

• Ibarretxe D, Rodriguez-Borjabad C, Feliu A, Bilbao JA, Masana L, Plana N. Detecting familial hypercholesterolemia earlier in life by actively searching for affected children:The DECOPIN project. Atherosclerosis. 2018 Nov;278:210-216. doi: 10.1016/j.atherosclerosis.2018.09.039. Epub 2018 Oct 1.

  PMID: 30312929 RESULT

• Plana N, Rodriguez-Borjabad C, Ibarretxe D, Ferre R, Feliu A, Caselles A, Masana L; en representacion del proyecto DECOPIN. Lipid and lipoprotein parameters for detection of familial hypercholesterolemia in childhood. The DECOPIN Project. Clin Investig Arterioscler. 2018 Jul-Aug;30(4):170-178. doi: 10.1016/j.arteri.2017.12.003. Epub 2018 Mar 27. English, Spanish.

  PMID: 29602595 RESULT

• Rodriguez-Borjabad C, Ibarretxe D, Girona J, Ferre R, Feliu A, Amigo N, Guijarro E, Masana L, Plana N; DECOPIN Group. Lipoprotein profile assessed by 2D-1H-NMR and subclinical atherosclerosis in children with familial hypercholesterolaemia. Atherosclerosis. 2018 Mar;270:117-122. doi: 10.1016/j.atherosclerosis.2018.01.040. Epub 2018 Jan 31.

  PMID: 29407879 RESULT

Biospecimen

Retention: SAMPLES WITHOUT DNA

plasma and serum

MeSH Terms

Conditions

Hyperlipoproteinemia Type II; Homozygous Familial Hypercholesterolemia; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

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

Study Officials

• Luis Masana, MD, PhD

  Institut Investigacio Sanitaria Pere Virgili

  STUDY DIRECTOR

Central Study Contacts

Núria Plana, MD, PhD

CONTACT

+34977300310; nplana@grupsagessa.cat

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: February 28, 2020
• First Posted: May 1, 2020
• Study Start: March 14, 2013
• Primary Completion (Estimated): March 14, 2030
• Study Completion (Estimated): July 1, 2030
• Last Updated: April 18, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

ES (2)