Familial HypercholesterolemiaNCT04101149
Genetic Causes of Familial Hypercholesterolemia
An observational study of Familial Hypercholesterolemia, run by Region Örebro County at 1 site in Sweden.
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. Read more about this study
- Who is it for?
- Ages 8 years and older
- Conditions the study is for
- Familial Hypercholesterolemia
- How many people
- 150 participants
- Where
- 1 siteSweden
- Study dates
- 1 Sep 2019to Dec 2045
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: All patients with suspected FH referred to the cardiac clinic at Orebro University hospital and their first grade relatives.
Who may be able to join
- 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.
Who cannot join
- 1) Age below 8 years.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Genetiska Orsaker Till familjär Hyperkolesterolemi- Mekanism, Prognos Och Individanpassad Behandling
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.
Read the 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.
- Conditions
- Familial Hypercholesterolemia
- Being tested
- No intervention
- Medical subject headings
- Hyperlipoproteinemia Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
No intervention.
| Study group | Role | What they receive |
|---|---|---|
| Group 1 | Patients with high clinical suspicion of familial hypercholesterolemia. No intervention. Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of mutations.
The prevalence of known and newly discovered mutations associated with FH in the study population.
Measured: 2 years
Secondary outcomes (2)
Prognosis, composite endpoint.
Time to death (cardiovascular and total), hospitalization due to acute myocardial infarction, unstable angina, heart failure or stroke.
Measured: 10 years
Prognosis, individual endpoint.
Time to the individual endpoints: death (cardiovascular and total), hospitalization due to acute myocardial infarction, unstable angina, heart failure, stroke.
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Sep 2019
- Study start1 Sep 2019
- Primary completionDec 2025 (estimated)
- Study completionDec 2045 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial HypercholesterolemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Region Örebro County
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Anna M Nordenskjöld, MD, PhD, Principal investigator, Örebro University, Sweden
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04101149
- Sponsor's protocol ID
- 262231
- Status last verified
- Apr 2025
- First submitted
- 20 Sep 2019
- Last updated
- 8 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 8 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetiska Orsaker Till familjär Hyperkolesterolemi- Mekanism, Prognos Och Individanpassad Behandling
- ClinicalTrials.gov ID
- NCT04101149
- Acronym / sponsor ID
- 262231
- Conditions
- Familial Hypercholesterolemia
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Region Örebro CountyUniversity, hospital or other
- Study start
- 1 Sep 2019 (actual)
- Primary completion
- Dec 2025 (estimated)
- Study completion
- Dec 2045 (estimated)
- First posted
- 24 Sep 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Group 1 | – | Other: No interventionPatients with high clinical suspicion of familial hypercholesterolemia. No intervention. |
Who may qualify
- Ages
- 8 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All patients with suspected FH referred to the cardiac clinic at Orebro University hospital and their first grade relatives.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- 1) Age below 8 years.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionNo intervention. | Other | Group 1 |
Primary outcome
Prevalence of mutations.
Time frame: 2 years
The prevalence of known and newly discovered mutations associated with FH in the study population.
2 secondary outcomes
Prognosis, composite endpoint.
Time frame: 10 years
Prognosis, individual endpoint.
Time frame: 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Apr 2025.
- Individual participant dataSharing planned: Undecided
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An Observational Study to Evaluate Treatment Patterns in High, Very High and Extreme Cardiovascular Risk Patients With Hypercholesterolemia, Including Familial Hypercholesterolemia
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Evaluation of the Effect of Lomitapide Treatment on Major Adverse Cardiovascular Events (MACE) in Patients With Homozygous Familial Hypercholesterolemia
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Assessment of the Prevalence of Steatotic Liver Disease Associated With Metabolic Dysfunction in Patients With Heterozygous Familial Hypercholesterolemia
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Anna M Nordenskjöld, MD, PhD principal investigator
Örebro University, Sweden
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Hypercholesterolemia, run by Region Örebro County at 1 site in Sweden.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 8 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Sweden. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of mutations. (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Apr 2025.