Familial HypercholesterolemiaNCT03597958
Genetic Causes of Hypercholesterolaemia in the Emirati Population
An observational study of Familial Hypercholesterolemia, run by Imperial College London Diabetes Centre at 1 site in United Arab Emirates.
Trial summary
The scientific aims of the project are to understand the genetic basis of Familial Hypercholesterolaemia (FH) in the Emirati population and estimate the overall prevalence of the disease. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Familial Hypercholesterolemia
- What is being tested?
- Next generation sequencing (NGS)
- How many people
- 1,000 participants
- Where
- 1 siteUnited Arab Emirates
- Study dates
- 17 Jan 2017to 31 Dec 2020
- 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 Any age
- All sexes
- Child, Adult, Older adult
Study population: Patients with hypercholesterolaemia attending Imperial College London Diabetes Centre, UAE.
Who may be able to join
- Patients attending Imperial College London Diabetes Centre
- Patients with hypercholesterolaemia
- Patients with possible evidence of known premature coronary heart disease (CHD)
- Patients (or parent/legal guardian if <18 years) willing and able to give informed consent for participation in the study.
Who cannot join
- Patients with no history of hypercholesterolaemia
- Patients or their legal guardian/legal representative who are unwilling or unable to give informed consent.
Trial locations and contacts
1 site in 1 country.
United Arab Emirates1 site, 1 recruiting
- Recruiting
Imperial College London Diabetes Centre
Abu Dhabi, 48338
Hinda Daggag, PhD, +971 2 404 0800, hdaggag@icldc.ae
About this study
The scientific aims of the project are to understand the genetic basis of Familial Hypercholesterolaemia (FH) in the Emirati population and estimate the overall prevalence of the disease. In addition, a clinical aim of the project is to explore the effectiveness of screening the relatives of individuals affected by FH and other lipid disorders ("cascade" screening) within Emirati families.
Read the detailed description
Familial Hypercholesterolaemia is an inherited genetic disorder which causes elevated levels of low density lipoprotein (LDL) cholesterol in the blood. High LDL is a risk factor for with arterial disease and people with FH develop coronary artery disease (CAD) early in life. People with only one inherited copy of the defective gene usually develop CAD before the age of 60, whereas individuals who have inherited two copies usually die before the age of 30 from myocardial infarction ("heart attack") or sudden cardiac death. Coronary artery disease is a major cause of death and disability in the United Arab Emirates (UAE), and the medical costs associated with treating this condition are significant. Early identification and treatment of affected individuals can substantially postpone the onset of arterial disease and reduce the risk of mortality. In clinical practice, FH cases are usually identified by screening the relatives of people known to be affected.
Current study will focus on identifying individuals with high risk score for FH, based on the available medical records and laboratory information system (LIS). Furthermore, patients with history of premature ischaemic vascular disease and/or high readings for LDL-C will be approached and asked to participate.
The scientific aims of the study are:
- Identifying individuals with likelihood of FH diagnosis and confirming FH by genetic testing (applying Next Generation Sequencing NGS technology to analyse the genes already known and/or suspected to cause FH).
- Identifying novel FH genes and mutations in the Emirati population by performing whole exome and whole genome sequencing
- Validating positive genetic test results by performing mutational analysis on parental samples (if available)
- Introducing cascade screening on a clinical basis in order to identify affected relatives of those index individuals with a clinical diagnosis of FH
- Determining the prevalence of FH in the UAE
- Determining the short and the long-term clinical outcomes of FH in the UAE
It is expected that the cascade screening will provide additional clinical benefit to study participants and their families in terms of early identification and treatment where diagnosis could otherwise be missed. Early recognition and treatment in individuals with FH has been shown to reduce morbidity and mortality of affected individuals. The information gathered during this project will help introduce a cost-effective method for identifying people with dyslipidaemias and provide early intervention and management.
- Conditions
- Familial Hypercholesterolemia
- Being tested
- Next generation sequencing (NGS)
- Keywords
- Familial Hypercholesterolemia, Hypercholesterolemia, Cascade Screening, Novel FH Genes, Novel FH Mutations, Next generation sequencing
- Medical subject headings
- Hyperlipoproteinemia Type II, Hypercholesterolemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Next generation sequencing (NGS)Genetic
NGS panel, whole exome / genome sequencing (WES/WGS), transcriptome analysis
| Study group | Role | What they receive |
|---|---|---|
| Hypercholesterolaemia | Individuals attending Imperial College London Diabetes Centre (ICLDC) and with LDL-C ≥5.0 mmol/L, for children <18 years LDL-C>95th centile by age and gender for country, and possible evidence of known premature CHD.
Individuals with a high probability of disease according to the Dutch Lipid Network Criteria, score of ≥6 points, will be identified as possible probands (individual serving as our starting point for the genetic study of the family) and will be selected for further screening.
Patients will be tested for known and/or suspected FH genes, using next generation sequencing (NGS) panel, whole exome and/or whole genome sequencing (WES/WGS) in cases where FH is highly suspected despite negative results from panel testing, and transcriptomic analysis of RNA blood samples. Receives: Genetic: Next generation sequencing (NGS) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Next generation sequencing (NGS)
Identify individuals with likelihood of FH diagnosis and confirming FH by genetic testing (applying NGS technology to analyse the genes already known and/or suspected to cause FH).Identifying novel FH genes and mutations in the Emirati population by performing whole exome and whole genome sequencing (WES/WGS).
Measured: through study completion, an average of 2 year
Secondary outcomes (3)
Genetic test validation
Validating positive genetic test results by performing mutational analysis on parental samples (if available)
Measured: through study completion, an average of 2 year
Cascade screening
Introduce cascade screening on a clinical basis in order to identify affected relatives of those index individuals with a clinical diagnosis of FH
Measured: through study completion, an average of 2 year
Prevalence of FH
Determine the prevalence of FH in the UAE
Measured: through study completion, an average of 2 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Jul 2018
- Study start17 Jan 2017
- Primary completion31 Dec 2020 (estimated)
- Study completion31 Dec 2020 (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
- Cross-sectional
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Imperial College London Diabetes Centre
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Maha Barakat, PhD FRCP, Principal investigator, Imperial College London Diabetes Centre
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03597958
- Sponsor's protocol ID
- IREC027
- Status last verified
- Feb 2020
- First submitted
- 27 Jun 2018
- Last updated
- 25 Jun 2020
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 25 Jun 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Causes of Hypercholesterolaemia in the Emirati Population
- ClinicalTrials.gov ID
- NCT03597958
- Acronym / sponsor ID
- IREC027
- Conditions
- Familial Hypercholesterolemia
- Keywords
- Familial Hypercholesterolemia, Hypercholesterolemia, Cascade Screening, Novel FH Genes, Novel FH Mutations, Next generation sequencing
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Imperial College London Diabetes CentreUniversity, hospital or other
- Study start
- 17 Jan 2017 (actual)
- Primary completion
- 31 Dec 2020 (estimated)
- Study completion
- 31 Dec 2020 (estimated)
- First posted
- 24 Jul 2018 (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.
The scientific aims of the project are to understand the genetic basis of Familial Hypercholesterolaemia (FH) in the Emirati population and estimate the overall prevalence of the disease. In addition, a clinical aim of the project is to explore the effectiveness of screening the relatives of individuals affected by FH and other lipid disorders ("cascade" screening) within Emirati families.
Detailed description
Familial Hypercholesterolaemia is an inherited genetic disorder which causes elevated levels of low density lipoprotein (LDL) cholesterol in the blood. High LDL is a risk factor for with arterial disease and people with FH develop coronary artery disease (CAD) early in life. People with only one inherited copy of the defective gene usually develop CAD before the age of 60, whereas individuals who have inherited two copies usually die before the age of 30 from myocardial infarction ("heart attack") or sudden cardiac death. Coronary artery disease is a major cause of death and disability in the United Arab Emirates (UAE), and the medical costs associated with treating this condition are significant. Early identification and treatment of affected individuals can substantially postpone the onset of arterial disease and reduce the risk of mortality. In clinical practice, FH cases are usually identified by screening the relatives of people known to be affected.
Current study will focus on identifying individuals with high risk score for FH, based on the available medical records and laboratory information system (LIS). Furthermore, patients with history of premature ischaemic vascular disease and/or high readings for LDL-C will be approached and asked to participate.
The scientific aims of the study are:
- Identifying individuals with likelihood of FH diagnosis and confirming FH by genetic testing (applying Next Generation Sequencing NGS technology to analyse the genes already known and/or suspected to cause FH).
- Identifying novel FH genes and mutations in the Emirati population by performing whole exome and whole genome sequencing
- Validating positive genetic test results by performing mutational analysis on parental samples (if available)
- Introducing cascade screening on a clinical basis in order to identify affected relatives of those index individuals with a clinical diagnosis of FH
- Determining the prevalence of FH in the UAE
- Determining the short and the long-term clinical outcomes of FH in the UAE
It is expected that the cascade screening will provide additional clinical benefit to study participants and their families in terms of early identification and treatment where diagnosis could otherwise be missed. Early recognition and treatment in individuals with FH has been shown to reduce morbidity and mortality of affected individuals. The information gathered during this project will help introduce a cost-effective method for identifying people with dyslipidaemias and provide early intervention and management.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Hypercholesterolaemia | – | Genetic: Next generation sequencing (NGS)Individuals attending Imperial College London Diabetes Centre (ICLDC) and with LDL-C ≥5.0 mmol/L, for children <18 years LDL-C>95th centile by age and gender for country, and possible evidence of known premature CHD. Individuals with a high probability of disease according to the Dutch Lipid Network Criteria, score of ≥6 points, will be identified as possible probands (individual serving as our starting point for the genetic study of the family) and will be selected for further screening. Patients will be tested for known and/or suspected FH genes, using next generation sequencing (NGS) panel, whole exome and/or whole genome sequencing (WES/WGS) in cases where FH is highly suspected despite negative results from panel testing, and transcriptomic analysis of RNA blood samples. |
Who may qualify
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with hypercholesterolaemia attending Imperial College London Diabetes Centre, UAE.
Key inclusion criteria (4 listed)
- Patients attending Imperial College London Diabetes Centre
- Patients with hypercholesterolaemia
- Patients with possible evidence of known premature coronary heart disease (CHD)
- Patients (or parent/legal guardian if <18 years) willing and able to give informed consent for participation in the study.
Key exclusion criteria (2 listed)
- Patients with no history of hypercholesterolaemia
- Patients or their legal guardian/legal representative who are unwilling or unable to give informed consent.
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 |
|---|---|---|
| Next generation sequencing (NGS)NGS panel, whole exome / genome sequencing (WES/WGS), transcriptome analysis | Genetic | Hypercholesterolaemia |
Primary outcome
Next generation sequencing (NGS)
Time frame: through study completion, an average of 2 year
Identify individuals with likelihood of FH diagnosis and confirming FH by genetic testing (applying NGS technology to analyse the genes already known and/or suspected to cause FH).Identifying novel FH genes and mutations in the Emirati population by performing whole exome and whole genome sequencing (WES/WGS).
3 secondary outcomes
Genetic test validation
Time frame: through study completion, an average of 2 year
Cascade screening
Time frame: through study completion, an average of 2 year
Prevalence of FH
Time frame: through study completion, an average of 2 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Jun 2020.
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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.
Maha Barakat, PhD FRCP principal investigator
Imperial College London Diabetes Centre
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 Imperial College London Diabetes Centre at 1 site in United Arab Emirates.
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 4 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: status not confirmed, as of the sponsor's last update on 25 Jun 2020. 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 United Arab Emirates. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Hinda Daggag, PhD (+971 2 404 0800, hdaggag@icldc.ae), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Next generation sequencing (NGS) (time frame: through study completion, an average of 2 year). 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 25 Jun 2020.