Familial HypercholesterolemiaNCT02225340
Relationships Between Plasma PCSK9 Levels, LDL-cholesterol Concentrations and Lipoprotein (a) Levels in Familial Hypercholesterolemia
An observational study of Familial Hypercholesterolemia, run by Laval University at 1 site in Canada.
Trial summary
Familial hypercholesterolemia (FH) is an autosomal codominant single gene disorder caused by mutations in the LDL receptor gene (LDLR) that disrupt the normal clearance of LDL particles from the plasma. Read more about this study
- Who is it for?
- Ages 18 to 65 yearsHealthy volunteers can take part
- Conditions the study is for
- Familial Hypercholesterolemia
- How many people
- 348 participants
- Where
- 1 siteCanada
- Study dates
- Jan 2014to Apr 2014
- Phase
- Observational
- Are there results?
- None posted in the registry
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 18 to 65 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: community sample
Who may be able to join
- Subjects with familial hypercholesterolemia:
- Aged between 18-65 years
- Carrier of a mutation in the LDL receptor gene
- Controls:
- Aged between 18-60 years
- HDL-cholesterol > 1.1 mmol/L
Show all 9Show fewer
- Triglycerides < 1.7 mmol/L
- Fasting blood glucose <6.1 mmol/L
- Normal blood pressure (<130/85)
Who cannot join
- Subjects with a previous history of cardiovascular disease
- Subjects with Type 2 diabetes
- Were pregnant or nursing;
- Subjects with a history of cancer
- Subjects with acute liver disease, hepatic dysfunction, or persistent elevations of serum transaminases
- Subjects with a secondary hyperlipidemia due to any cause
Show all 9Show fewer
- History of alcohol or drug abuse within the past 2 years
- hormonal treatment
- Subjects who are in a situation or have any condition that, in the opinion of the investigator, may interfere with optimal participation in the study
Trial locations and contacts
1 site in 1 country.
Canada1 site
Institute of Nutrition and Functional Foods (INAF)
Québec, Quebec, G1V 0A6
About this study
Familial hypercholesterolemia (FH) is an autosomal codominant single gene disorder caused by mutations in the LDL receptor gene (LDLR) that disrupt the normal clearance of LDL particles from the plasma. Heterozygous patients (HeFH) present a two- to three-fold raise in plasma LDL-cholesterol (LDL-C) concentrations and coronary artery disease occurs earlier among HeFH carrying negative-receptor (NR) mutations as compared with HeFH subjects carrying defective-receptor (DR) variants. Proprotein convertase subtilisin/kexin type 9 (PCSK9) regulates LDL-C levels by binding to LDLR and by enhancing its intracellular degradation.
The objective of this study is to examine to what extent variations in LDL-C and Lipoprotein (Lp) (a) concentrations are related to PCSK9 levels in a large French-Canadian cohort of HeFH subjects.
The primary hypothesis is that that PCSK9 levels have a significant impact on LDL-C concentration variability and are associated with Lp(a) levels.
- Conditions
- Familial Hypercholesterolemia
- 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 |
|---|---|---|
| Controls | Not described | |
| Familial hypercholesterolemia | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Impact of PCSK9 on LDL-C concentrations
Measured: Week 1
Secondary outcomes (1)
Impact of PCSK9 on Lp(a) concentrations
Measured: Week 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Aug 2014 (estimated)
- Study startJan 2014
- Primary completionApr 2014
- Study completionApr 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Familial HypercholesterolemiaStudies of the same condition, open and under way.
- More trials run by Laval UniversityThe sponsor's other registered studies.
- 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
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 348 participants (actual)
Sponsor and investigators
- Lead sponsor
- Laval University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Patrick Couture, Laval University
- Investigators
- Patrick Couture, MD, FRCP, PhD, Principal investigator, Laval University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02225340
- Sponsor's protocol ID
- FH-PCSK9
- Status last verified
- Aug 2014
- First submitted
- 22 Aug 2014
- Last updated
- 26 Aug 2014
- Results posted
- No
- Data monitoring committee
- No
Publications
Drouin-Chartier JP, Hogue JC, Tremblay AJ, Bergeron J, Lamarche B, Couture P. The elevation of plasma concentrations of apoB-48-containing lipoproteins in familial hypercholesterolemia is independent of PCSK9 levels. Lipids Health Dis. 2017 Jun 15;16(1):119. doi: 10.1186/s12944-017-0502-x.
PubMed 28619117
Study at a glance
From the registry record, last updated by the sponsor on 26 Aug 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Relationships Between Plasma PCSK9 Levels, LDL-cholesterol Concentrations and Lipoprotein (a) Levels in Familial Hypercholesterolemia
- ClinicalTrials.gov ID
- NCT02225340
- Acronym / sponsor ID
- FH-PCSK9
- Conditions
- Familial Hypercholesterolemia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 348 participants (actual)
- Lead sponsor
- Laval UniversityUniversity, hospital or other
- Study start
- Jan 2014
- Primary completion
- Apr 2014 (actual)
- Study completion
- Apr 2014 (actual)
- First posted
- 26 Aug 2014 (estimated)
- 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 an autosomal codominant single gene disorder caused by mutations in the LDL receptor gene (LDLR) that disrupt the normal clearance of LDL particles from the plasma. Heterozygous patients (HeFH) present a two- to three-fold raise in plasma LDL-cholesterol (LDL-C) concentrations and coronary artery disease occurs earlier among HeFH carrying negative-receptor (NR) mutations as compared with HeFH subjects carrying defective-receptor (DR) variants. Proprotein convertase subtilisin/kexin type 9 (PCSK9) regulates LDL-C levels by binding to LDLR and by enhancing its intracellular degradation.
The objective of this study is to examine to what extent variations in LDL-C and Lipoprotein (Lp) (a) concentrations are related to PCSK9 levels in a large French-Canadian cohort of HeFH subjects.
The primary hypothesis is that that PCSK9 levels have a significant impact on LDL-C concentration variability and are associated with Lp(a) levels.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Controls | – | – |
| Familial hypercholesterolemia | – | – |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- community sample
Key inclusion criteria (9 listed)
- Aged between 18-65 years
- Carrier of a mutation in the LDL receptor gene
- Aged between 18-60 years
- HDL-cholesterol > 1.1 mmol/L
- Triglycerides < 1.7 mmol/L
Key exclusion criteria (9 listed)
- Subjects with a previous history of cardiovascular disease
- Subjects with Type 2 diabetes
- Were pregnant or nursing;
- Subjects with a history of cancer
- Subjects with acute liver disease, hepatic dysfunction, or persistent elevations of serum transaminases
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
Impact of PCSK9 on LDL-C concentrations
Time frame: Week 1
1 secondary outcome
Impact of PCSK9 on Lp(a) concentrations
Time frame: Week 1
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Aug 2014.
- Derived from this study: PubMed 28619117Drouin-Chartier JP, Hogue JC, Tremblay AJ, Bergeron J, Lamarche B, Couture P. The elevation of plasma concentrations of apoB-48-containing lipoproteins in familial hypercholesterolemia is independent of PCSK9 levels. Lipids Health Dis. 2017 Jun 15;16(1):119. doi: 10.1186/s12944-017-0502-x.
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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.
Patrick Couture, MD, FRCP, PhD principal investigator
Laval University
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 Laval University at 1 site in Canada.
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 9 inclusion and 9 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: finished, as of the sponsor's last update on 26 Aug 2014. 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 Canada. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Impact of PCSK9 on LDL-C concentrations (time frame: Week 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02225340, which also lists 1 linked publication.
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 26 Aug 2014.