NCT04101149

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.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
150

participants targeted

Target at P50-P75 for all trials

Timeline
238mo left

Started Sep 2019

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress26%
Sep 2019Dec 2045

Study Start

First participant enrolled

September 1, 2019

Completed
19 days until next milestone

First Submitted

Initial submission to the registry

September 20, 2019

Completed
4 days until next milestone

First Posted

Study publicly available on registry

September 24, 2019

Completed
6.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2025

Completed
20 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2045

Expected
Last Updated

April 8, 2025

Status Verified

April 1, 2025

Enrollment Period

6.3 years

First QC Date

September 20, 2019

Last Update Submit

April 4, 2025

Conditions

Familial Hypercholesterolemia

Outcome Measures

Primary Outcomes (1)

  • Prevalence of mutations.

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

    2 years

Secondary Outcomes (2)

  • Prognosis, composite endpoint.

    10 years

  • Prognosis, individual endpoint.

    10 years

Study Arms (1)

Group 1

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

Other: No intervention

Interventions

No interventionOTHER

No intervention.

Group 1

Eligibility Criteria

Age8 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

All patients with suspected FH referred to the cardiac clinic at Orebro University hospital and their first grade relatives.

You may qualify if:

  • 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.

You may not qualify if:

  • \) Age below 8 years.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Örebro University hospital

Örebro, 701 85, Sweden

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples for investigation of lipids, electrolytes, markers of inflammation and myocardial injury. Blood samples for extraction of DNA for genetic analysis.

MeSH Terms

Conditions

Hyperlipoproteinemia Type II

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesHyperlipoproteinemiasHyperlipidemiasDyslipidemiasLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Anna M Nordenskjöld, MD, PhD

    Örebro University, Sweden

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 20, 2019

First Posted

September 24, 2019

Study Start

September 1, 2019

Primary Completion

December 1, 2025

Study Completion (Estimated)

December 1, 2045

Last Updated

April 8, 2025

Record last verified: 2025-04

Locations

SE(1)