Genetic Causes of Familial Hypercholesterolemia

Active, not recruiting

• Conditions: Familial Hypercholesterolemia
• Interventions: Other: No intervention

• Registration Number: NCT04101149
• Lead Sponsor: Region Örebro County

Brief Summary

Familial hypercholesterolemia (FH) is a common disease. The genetic background to FH is not yet fully understood. In the present prospective cohort study we aim to study the association between different clinical characteristics, gene mutations and prognosis.

Detailed Description

In this prospective observational cohort study of patients with high clinical suspicion of familial hypercholesterolemia (FH) we aim to study the association between different clinical characteristics, gene mutations and prognosis.

The included patients will undergo physical examination and extended blood sampling. DNA will be extracted and used for both whole genome sequencing and investigation of both known- , unknown- and suspected mutations associated with FH.

The patients will be followed in for 15 years in the Swedish patients registry and the Swedish cause of death registry.

Study Timeline

• Study Start: 2019-09-01
• Study First Submitted: 2019-09-20
• Study First Submitted QC: 2019-09-20
• Study First Posted: 2019-09-24
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-04
• Last Update Posted: 2025-04-08
• Primary Completion: 2025-12
• Study Completion: 2045-12

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 150

Inclusion Criteria

1. Age 8 years or older.
2. Clinical suspicion of FH
3. Dutch Lipid Clinic Network Score of at least four or a first grade relative with a genetic deviation that may be associated with FH.

Exclusion Criteria

1. Age below 8 years.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Group 1	No intervention	Patients with high clinical suspicion of familial hypercholesterolemia. No intervention.

Primary Outcome Measures

Name	Time	Method
Prevalence of mutations.	2 years	The prevalence of known and newly discovered mutations associated with FH in the study population.

Secondary Outcome Measures

Name	Time	Method
Prognosis, composite endpoint.	10 years	Time to death (cardiovascular and total), hospitalization due to acute myocardial infarction, unstable angina, heart failure or stroke.
Prognosis, individual endpoint.	10 years	Time to the individual endpoints: death (cardiovascular and total), hospitalization due to acute myocardial infarction, unstable angina, heart failure, stroke.

Trial Locations

Locations (1)

Örebro University hospital; 🇸🇪 Örebro, Sweden