Genetic Causes of Familial Hypercholesterolemia

Familial Hypercholesterolemia Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04101149
• Other study ID #: 262231
• Status: Recruiting
• Start date: September 1, 2019
• Est. completion date: December 2045

Study information

• Verified date: November 2023
• Source: Region Örebro County
• Contact: Anna M Nordenskjöld, MD, PhD
• Phone: +46 19 6021000
• Email: anna.nordenskjold[@]regionorebrolan.se
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 150
• Est. completion date: December 2045
• Est. primary completion date: December 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 8 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Familial Hypercholesterolemia
• Hypercholesterolemia
• Hyperlipoproteinemia Type II

Intervention

Other:
• No intervention
No intervention.

Locations

Country	Name	City	State
Sweden	Örebro University hospital	Örebro

Sponsors (1)

Lead Sponsor	Collaborator
Region Örebro County

Country where clinical trial is conducted

Sweden, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Prevalence of mutations.	The prevalence of known and newly discovered mutations associated with FH in the study population.	2 years
Secondary	Prognosis, composite endpoint.	Time to death (cardiovascular and total), hospitalization due to acute myocardial infarction, unstable angina, heart failure or stroke.	10 years
Secondary	Prognosis, individual endpoint.	Time to the individual endpoints: death (cardiovascular and total), hospitalization due to acute myocardial infarction, unstable angina, heart failure, stroke.	10 years