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Active, Not Recruiting

NCT Number: NCT04101149

Genetic Causes of Familial Hypercholesterolemia

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Familial Hypercholesterolemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyslipidemias Genetic Diseases, Inborn Hyperlipidemias Hyperlipoproteinemia Type II Hyperlipoproteinemias Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Age range

8 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Örebro University hospital

Örebro, 701 85, Sweden

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Age 8 years or older.
  • Clinical suspicion of FH
  • 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

  • Age below 8 years.

Treatment and study plan

No intervention

Other

No intervention.

Primary outcomes

  1. Prevalence of mutations.

    Time frame: 2 years

    The prevalence of known and newly discovered mutations associated with FH in the study population.

Secondary outcomes

  1. Prognosis, composite endpoint.

    Time frame: 10 years

    Time to death (cardiovascular and total), hospitalization due to acute myocardial infarction, unstable angina, heart failure or stroke.

  2. Prognosis, individual endpoint.

    Time frame: 10 years

    Time to the individual endpoints: death (cardiovascular and total), hospitalization due to acute myocardial infarction, unstable angina, heart failure, stroke.

Sponsors and collaborators

Lead sponsor

Region Örebro County

Other

Registry information

Official study title

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

Important dates

Study start
2019
Primary completion
2025
Study completion
2045
First posted
Sep 24, 2019
Registry last updated
Apr 8, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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