Status:
RECRUITING
Early Detection of Familial Hypercholesterolemia in Children
Lead Sponsor:
Institut Investigacio Sanitaria Pere Virgili
Conditions:
Familial Hypercholesterolemia
Familial Hypercholesterolemia - Heterozygous
Eligibility:
All Genders
2-18 years
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 necessar...
Detailed Description
The most prevalent cause of hypercholesterolemia in childhood is Heterozygous Familial Hypercholesterolemia (HeFH). It is a monogenic disorder that is transmitted of autosomal dominant way and affect...
Eligibility Criteria
Inclusion
- 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.
Exclusion
- The child population under 2 and over the age of 18 and children.
- Children with high cholesterol but by secondary causes.
Key Trial Info
Start Date :
March 14 2013
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
July 1 2030
Estimated Enrollment :
400 Patients enrolled
Trial Details
Trial ID
NCT04370899
Start Date
March 14 2013
End Date
July 1 2030
Last Update
April 18 2025
Active Locations (2)
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1
Hospital Universitari Sant Joan de Reus
Reus, Tarragona, Spain, 43440
2
Hospital Universitari Sant Joan
Reus, Tarragona, Spain, 43440