Genetic Causes of Familial Hypercholesterolemia

Genetiska Orsaker Till familjär Hyperkolesterolemi- Mekanism, Prognos Och Individanpassad Behandling

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04101149

Enrollment

150

Registered

2019-09-24

Start date

2019-09-01

Completion date

2045-12-31

Last updated

2025-04-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Familial Hypercholesterolemia

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.

Interventions

OTHERNo intervention

No intervention.

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

8 Years to No maximum

Healthy volunteers

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.

Design outcomes

Primary

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

Secondary

Measure	Time frame	Description
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.

Countries

Sweden

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026