Genetic Causes of Familial Hypercholesterolemia

NCT ID: NCT04101149

Last Updated: 2025-04-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

150 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-09-01

Study Completion Date

2045-12-31

Brief Summary

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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

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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.

Conditions

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Familial Hypercholesterolemia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Group 1

Patients with high clinical suspicion of familial hypercholesterolemia. No intervention.

No intervention

Intervention Type OTHER

No intervention.

Interventions

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No intervention

No intervention.

Intervention Type OTHER

Eligibility Criteria

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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.
Minimum Eligible Age

8 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Region Örebro County

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Anna M Nordenskjöld, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Örebro University, Sweden

Locations

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Örebro University hospital

Örebro, , Sweden

Site Status

Countries

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Sweden

Other Identifiers

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262231

Identifier Type: -

Identifier Source: org_study_id

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