Familial HypercholesterolemiaNCT05825612
EPIRUS FH Reverse Cascade Screening
An observational study of Familial Hypercholesterolemia, run by Hellenic Atherosclerosis Society.
Trial summary
Familial hypercholesterolemia (FH) is the most common inherited metabolic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If left untreated, lifelong exposure to elevated LDL-C leads to a substantially increased risk of premature cardiovascular disease as compared to the general… Read more about this study
- Who is it for?
- Ages 4 to 16 yearsHealthy volunteers can take part
- Conditions the study is for
- Familial Hypercholesterolemia
- How many people
- 1,000 participants
- Where
- No sites listed yet
- Study dates
- May 2023to May 2033
- How long will I take part?
- 10 Years
- 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 4 to 16 years
- All sexes
- Healthy volunteers accepted
- Child
Study population: Patients genetically diagnosed with familial hypercholesterolemia (FH). Non-affected (non-FH) individuals as healthy controls.
Who may be able to join
- LDL-C >160 mg/dL on two seperate measurements 3 months apart
- LDL-C >130 mg/dL + family history of premature coronary artery disease or hypercholesterolemia in one parent
- Children and adolescents on cholesterol-lowering medication
Who cannot join
- Refusal to sign the consent form and disagreement with the terms of participation.
- Any clinically significant disorder recognized at the time of the preliminary assessment, which in the judgment of the investigator would disqualify patient's participation in the study.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Reverse Cascade Screening for Familial Hypercholesterolemia in Children and Adolescents in Northwest Greece
Familial hypercholesterolemia (FH) is the most common inherited metabolic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If left untreated, lifelong exposure to elevated LDL-C leads to a substantially increased risk of premature cardiovascular disease as compared to the general population. Although FH adverse cardiovascular outcomes are potentially preventable through early identification of FH individuals and initiation of effective treatment, available evidence shows that FH is under-diagnosed and under-treated.
Childhood is the optimal period for FH screening, because due to minimal dietary and hormonal influences, LDL-C levels reflect predominantly the genetic component in children and are well suited to discriminate FH from other causes of elevated LDL-C. If FH remains untreated in this latent stage of the disease, individuals show a 10-fold increase of cardiovascular risk during early and middle adulthood. In this context, an effective approach for detecting FH would be a screening during childhood or in young adolescents in combination with reverse cascade screening of first-degree relatives of FH individuals.
EPIRUS-FH registry is a model program of reverse cascade screening for FH in children and adolescents in Northwest Greece that aims to increase public and physician awareness, strengthen the national registry of familial hypercholesterolemia (HELLAS-FH) and constitute the core for a national FH registry in children and adolescents in Greece.
- Conditions
- Familial Hypercholesterolemia
- Keywords
- children, adolescents, reverse cascade screening
- 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.
| Study group | Role | What they receive |
|---|---|---|
| Heterozygous Familial Hypercholesterolemia | Children and adolescents with Heterozygous Familial Hypercholesterolemia. | |
| Homozygous Familial Hypercholesterolemia | Children and adolescents with Homozygous Familial Hypercholesterolemia. | |
| Unaffected (non-FH) individuals | Children and adolescents not carrying the investigated FH mutations |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnosis of Familial Hypercholesterolemia
Type of FH (Heterozygous FH, Homozygous FH). In the case of genetic diagnosis, what gene was affected (LDL receptor, Apolipoprotein B, PCSK9, LDLRAP1, other to be specified).
Age at diagnosis of FH.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Apr 2023
- Study startMay 2023 (estimated)
- Primary completionMay 2033 (estimated)
- Study completionMay 2033 (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
- 1,000 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Hellenic Atherosclerosis Society
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05825612
- Sponsor's protocol ID
- EPIRUS-FH
- Status last verified
- Apr 2023
- First submitted
- 11 Apr 2023
- Last updated
- 24 Apr 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Apr 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Reverse Cascade Screening for Familial Hypercholesterolemia in Children and Adolescents in Northwest Greece
- ClinicalTrials.gov ID
- NCT05825612
- Acronym / sponsor ID
- EPIRUS-FH
- Conditions
- Familial Hypercholesterolemia
- Keywords
- children, adolescents, reverse cascade screening
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Hellenic Atherosclerosis SocietyUniversity, hospital or other
- Study start
- May 2023 (estimated)
- Primary completion
- May 2033 (estimated)
- Study completion
- May 2033 (estimated)
- First posted
- 24 Apr 2023 (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 the most common inherited metabolic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If left untreated, lifelong exposure to elevated LDL-C leads to a substantially increased risk of premature cardiovascular disease as compared to the general population. Although FH adverse cardiovascular outcomes are potentially preventable through early identification of FH individuals and initiation of effective treatment, available evidence shows that FH is under-diagnosed and under-treated.
Childhood is the optimal period for FH screening, because due to minimal dietary and hormonal influences, LDL-C levels reflect predominantly the genetic component in children and are well suited to discriminate FH from other causes of elevated LDL-C. If FH remains untreated in this latent stage of the disease, individuals show a 10-fold increase of cardiovascular risk during early and middle adulthood. In this context, an effective approach for detecting FH would be a screening during childhood or in young adolescents in combination with reverse cascade screening of first-degree relatives of FH individuals.
EPIRUS-FH registry is a model program of reverse cascade screening for FH in children and adolescents in Northwest Greece that aims to increase public and physician awareness, strengthen the national registry of familial hypercholesterolemia (HELLAS-FH) and constitute the core for a national FH registry in children and adolescents in Greece.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Heterozygous Familial Hypercholesterolemia | – | –Children and adolescents with Heterozygous Familial Hypercholesterolemia. |
| Homozygous Familial Hypercholesterolemia | – | –Children and adolescents with Homozygous Familial Hypercholesterolemia. |
| Unaffected (non-FH) individuals | – | –Children and adolescents not carrying the investigated FH mutations |
Who may qualify
- Ages
- 4 to 16 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- Patients genetically diagnosed with familial hypercholesterolemia (FH). Non-affected (non-FH) individuals as healthy controls.
Key inclusion criteria (3 listed)
- LDL-C >160 mg/dL on two seperate measurements 3 months apart
- LDL-C >130 mg/dL + family history of premature coronary artery disease or hypercholesterolemia in one parent
- Children and adolescents on cholesterol-lowering medication
Key exclusion criteria (2 listed)
- Refusal to sign the consent form and disagreement with the terms of participation.
- Any clinically significant disorder recognized at the time of the preliminary assessment, which in the judgment of the investigator would disqualify patient's participation in the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Diagnosis of Familial Hypercholesterolemia
Time frame: Baseline
Type of FH (Heterozygous FH, Homozygous FH). In the case of genetic diagnosis, what gene was affected (LDL receptor, Apolipoprotein B, PCSK9, LDLRAP1, other to be specified). Age at diagnosis of FH.
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 24 Apr 2023.
- Individual participant dataSharing planned: No
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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.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Hypercholesterolemia, run by Hellenic Atherosclerosis Society.
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 2 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: opening soon, as of the sponsor's last update on 24 Apr 2023. Status can change between updates, so confirm with the study contact before making plans.
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?
Contact Haralampos Milionis (+302651099736, hmilioni@uoi.gr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnosis of Familial Hypercholesterolemia (time frame: Baseline). 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 24 Apr 2023.