Familial hypercholesterolemia in childhood and adolescents: A hidden reality.
Núria Plana, Cèlia Rodríguez-Borjabad, Daiana Ibarretxe...
https://pubmed.ncbi.nlm.nih.gov/28390853Actively Recruiting
Age: 2Years - 18Years
All Genders
ID04370899
Early Detection of Familial Hypercholesterolemia in Children in Tarragona Province
Led by Institut Investigacio Sanitaria Pere Virgili · Updated on 2025-04-18
400
Participants Needed
2
Research Sites
15 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Familial Hypercholesterolemia (FH) is a common genetic condition that causes high levels of low-density lipoproteins (LDL-C) from birth and increases cardiovascular risk. This research focuses on early detection of Heterozygous FH (HeFH) in children aged 2 to 18 years, aiming to reduce atherosclerosis progression and cardiovascular problems in adulthood. Early diagnosis also helps identify affected family members, making it a significant public health concern. Children suspected of having FH will be evaluated through genetic testing or clinical criteria, including LDL-C levels and family history. Participants will undergo lifestyle assessments using food frequency questionnaires and physical activity evaluations. The study compares children diagnosed with FH to unaffected children, monitoring lipid levels and healthy habits over up to 10 years to track disease progression. During the study, children and their parents will complete food diaries and provide information on physical activity and tobacco use. Researchers will measure LDL cholesterol levels annually and monitor the number of children diagnosed with FH. The study aims to improve early detection and management of FH in children, supporting better cardiovascular health outcomes later in life.
CONDITIONS
Brief Title
Early Detection of Familial Hypercholesterolemia in Children
Who Can Participate
Age: 2Years - 18Years
All Genders
Eligibility Criteria
You may qualify if you...
- Children between 2 and 18 years of age
- LDL cholesterol level above 135 mg/dL
- Pediatrician must have ruled out secondary causes of high cholesterol such as hypothyroidism, nephrotic syndrome, diabetes, or renal insufficiency
- One parent must have a confirmed genetic mutation or a clinical diagnosis of Familial Hypercholesterolemia with a DLCN score of 8 or higher
You will not qualify if you...
- Children under 2 years of age or older than 18 years
- Children with high cholesterol caused by secondary conditions rather than Familial Hypercholesterolemia
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Surveillance
Duration - Up to 10 years
Participants are monitored annually to track LDL-cholesterol levels and healthy habits over time.
Annual visits for up to 10 years
Trial Site Locations
Total: 2 locations
1
Hospital Universitari Sant Joan de Reus
Reus, Tarragona, Spain, 43440
Actively Recruiting
2
Hospital Universitari Sant Joan
Reus, Tarragona, Spain, 43440
Actively Recruiting
Loading map...
Research Team
N
Núria Plana, MD, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here
Published Research Related To This Trial
Efficacy of therapeutic lifestyle changes on lipid profiles assessed by NMR in children with familial and non-familial hypercholesterolemia.
Cèlia Rodríguez-Borjabad, Ana Irene Malo, Daiana Ibarretxe...
https://pubmed.ncbi.nlm.nih.gov/32005605Detecting familial hypercholesterolemia earlier in life by actively searching for affected children:The DECOPIN project.
Daiana Ibarretxe, Cèlia Rodríguez-Borjabad, Albert Feliu...
https://pubmed.ncbi.nlm.nih.gov/30312929Lipid and lipoprotein parameters for detection of familial hypercholesterolemia in childhood. The DECOPIN Project.
Núria Plana, Cèlia Rodríguez-Borjabad, Daiana Ibarretxe...
https://pubmed.ncbi.nlm.nih.gov/29602595Lipoprotein profile assessed by 2D-1H-NMR and subclinical atherosclerosis in children with familial hypercholesterolaemia.
Cèlia Rodríguez-Borjabad, Daiana Ibarretxe, Josefa Girona...
https://pubmed.ncbi.nlm.nih.gov/29407879