Familial HypercholesterolemiaNCT02865694
Developing and Implementing Familial Hypercholesterolemia Registry
An observational study of Familial Hypercholesterolemia, run by Isfahan University of Medical Sciences at 1 site in Iran.
Trial summary
Familial hypercholesterolemia (FH) is a most prevalent genetic disorder define as high cholesterol level and premature death. The prevalence of FH reported in few countries however unknown in Iran. Thus determine the FH patient, finding diagnostic strategy and appropriate treatment are important. Read more about this study
- Who is it for?
- Ages 2 to 80 years
- Conditions the study is for
- Familial Hypercholesterolemia
- What is being tested?
- Cascade
- How many people
- 500 participants
- Where
- 1 siteIran
- Study dates
- Aug 2016to Sep 2021
- How long will I take part?
- 5 Years
- 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 2 to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients from clinical laboratory.
Who may be able to join
- Personal concentration of LDL-C > 190 mg/dL or LDL-C > 120 mg/dL in Treatment Group.
- Family and/or personal history of premature heart disease.
Who cannot join
- Hyperlipidemia with underlying disorders.
Trial locations and contacts
1 site in 1 country.
Iran1 site, 1 recruiting
- Recruiting
Isfahan Cardio vascular Research Institute
Isfahan
Mohammad reza Sabri, MD, 03136682736 ext. 0098, sabrimrs@gmail.com
Nizal Sarrafzadegan, MD
About this study
Official title: Developing and Implementing Familial Hypercholesterolemia Registry in Isfahan, Iran: Cascade Screening, Management and Long-term Follow up.
Familial hypercholesterolemia (FH) is a most prevalent genetic disorder define as high cholesterol level and premature death. The prevalence of FH reported in few countries however unknown in Iran. Thus determine the FH patient, finding diagnostic strategy and appropriate treatment are important. We intent to use cascade method to screening patients, also our expected outputs are to develop and implement a registry program for FH patients and their families and to study their genetic disorder. FH patients will be followed from management, treatment and prevention of Cardio vascular disease in order to increase premature death.
Read the detailed description
Familial hypercholesterolemia (FH) is a genetic disorder define as high cholesterol levels, particularly very high levels of low-density lipoprotein (LDL), in the blood and early cardiovascular disease and premature death. FH is an autosomal dominant disease with a prevalence 1:500 (new study in Netherlands demonstrated 1:244) in population more frequent than Cystic fibrosis, mellitus diabetes or neonatal hypothyroidism. Canadian registry demonstrated FH is more common among people if French Canadian, Christian Lebanese, and Afrikaner descent. The Major causes of FH are pathogenic variant in the LDL-receptor (LDLR) gene or the Apo lipoprotein B (APOB) gene. The clinical signs of FH are high level of Cholesterol (between 350-550 mg/dL in heterozygous), Yellow deposits of cholesterol-rich fat in various places on the body such as around the eyelids (known as xanthelasma palpebrarum), the outer margin of the iris (known as arcus senilis corneae), and in the tendons of the hands, elbows, knees and feet, particularly the Achilles tendon (known as a tendon xanthoma). FH is a hidden syndrome which leads to cardiovascular disease.
After introducing the statins total mortality have reduced significantly in these patients. Thus screening and identification of patients and treatment with the most effective therapies will decrease the risk of premature death.
Also, most of patients require an appropriate lipid-lowering medications. Although the genetic problem is the most important factor to expression of FH other factors like environmental and metabolic factor can be effective in CVD and premature death.
Therefore, identification and follow-up FH patients is important for CVD Rate cuts and decrease Treatment costs thus this study can gain these outcomes.
- Conditions
- Familial Hypercholesterolemia
- Being tested
- Cascade
- 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.
CascadeOther
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Patients with FH.
Measured: 1 Year
Secondary outcomes (7)
Number of premature cardio vascular events annually follow-up.
Measured: 5 Years
Low Density Lipoprotein (LDL-C) at base line and during annually follow-up.
Measured: 1 Year
High density lipoprotein (HDL) at base line and during annually follow-up.
Measured: 1 Year
triglyceride (TG) at base line and during annually follow-up.
Measured: 1 Year
LDL-receptor frequency of mutation in Persian population.
Measured: 1 Year
PCSK9 frequency of mutation in Persian population.
Measured: 1 Year
Apo-B frequency of mutation in Persian population.
Measured: 1 Year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Aug 2016 (estimated)
- Study startAug 2016
- Primary completionSep 2017 (estimated)
- Study completionSep 2021 (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
- 500 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Isfahan University of Medical Sciences
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Mohamamd Reza Sabri, Isfahan University of Medical Sciences
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02865694
- Sponsor's protocol ID
- FH-ICRI
- Status last verified
- Aug 2016
- First submitted
- 10 Aug 2016
- Last updated
- 16 Aug 2016
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Aug 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Developing and Implementing Familial Hypercholesterolemia Registry in Isfahan, Iran: Cascade Screening, Management and Long-term Follow up.
- ClinicalTrials.gov ID
- NCT02865694
- Acronym / sponsor ID
- FH-ICRI
- Conditions
- Familial Hypercholesterolemia
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- Isfahan University of Medical SciencesUniversity, hospital or other
- Study start
- Aug 2016
- Primary completion
- Sep 2017 (estimated)
- Study completion
- Sep 2021 (estimated)
- First posted
- 12 Aug 2016 (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 a most prevalent genetic disorder define as high cholesterol level and premature death. The prevalence of FH reported in few countries however unknown in Iran. Thus determine the FH patient, finding diagnostic strategy and appropriate treatment are important. We intent to use cascade method to screening patients, also our expected outputs are to develop and implement a registry program for FH patients and their families and to study their genetic disorder. FH patients will be followed from management, treatment and prevention of Cardio vascular disease in order to increase premature death.
Detailed description
Familial hypercholesterolemia (FH) is a genetic disorder define as high cholesterol levels, particularly very high levels of low-density lipoprotein (LDL), in the blood and early cardiovascular disease and premature death. FH is an autosomal dominant disease with a prevalence 1:500 (new study in Netherlands demonstrated 1:244) in population more frequent than Cystic fibrosis, mellitus diabetes or neonatal hypothyroidism. Canadian registry demonstrated FH is more common among people if French Canadian, Christian Lebanese, and Afrikaner descent. The Major causes of FH are pathogenic variant in the LDL-receptor (LDLR) gene or the Apo lipoprotein B (APOB) gene. The clinical signs of FH are high level of Cholesterol (between 350-550 mg/dL in heterozygous), Yellow deposits of cholesterol-rich fat in various places on the body such as around the eyelids (known as xanthelasma palpebrarum), the outer margin of the iris (known as arcus senilis corneae), and in the tendons of the hands, elbows, knees and feet, particularly the Achilles tendon (known as a tendon xanthoma). FH is a hidden syndrome which leads to cardiovascular disease.
After introducing the statins total mortality have reduced significantly in these patients. Thus screening and identification of patients and treatment with the most effective therapies will decrease the risk of premature death.
Also, most of patients require an appropriate lipid-lowering medications. Although the genetic problem is the most important factor to expression of FH other factors like environmental and metabolic factor can be effective in CVD and premature death.
Therefore, identification and follow-up FH patients is important for CVD Rate cuts and decrease Treatment costs thus this study can gain these outcomes.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
Who may qualify
- Ages
- 2 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients from clinical laboratory.
Key inclusion criteria (2 listed)
- Personal concentration of LDL-C > 190 mg/dL or LDL-C > 120 mg/dL in Treatment Group.
- Family and/or personal history of premature heart disease.
Key exclusion criteria (1 listed)
- Hyperlipidemia with underlying disorders.
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 |
|---|---|---|
| Cascade | Other | – |
Primary outcome
Number of Patients with FH.
Time frame: 1 Year
7 secondary outcomes
Number of premature cardio vascular events annually follow-up.
Time frame: 5 Years
Low Density Lipoprotein (LDL-C) at base line and during annually follow-up.
Time frame: 1 Year
High density lipoprotein (HDL) at base line and during annually follow-up.
Time frame: 1 Year
triglyceride (TG) at base line and during annually follow-up.
Time frame: 1 Year
LDL-receptor frequency of mutation in Persian population.
Time frame: 1 Year
PCSK9 frequency of mutation in Persian population.
Time frame: 1 Year
Apo-B frequency of mutation in Persian population.
Time frame: 1 Year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Aug 2016.
Related trials for Familial Hypercholesterolemia
Active, not recruitingObservational study
Assessment of the Prevalence of Steatotic Liver Disease Associated With Metabolic Dysfunction in Patients With Heterozygous Familial Hypercholesterolemia
Heterozygous Familial Hypercholesterolemia
RecruitingPhase 3
Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia
Homozygous Familial Hypercholesterolemia
Not yet recruitingPhase 1/2
EDIT-401 in Adults Who Require Additional Lowering of Low-Density Lipoprotein Cholesterol (LDL-C)
Heterozygous Familial Hypercholesterolemia (HeFH)
RecruitingPhase 1
Phase 1b Study of VERVE-201 in Patients With Refractory Hyperlipidemia
Hypercholesterolemia, Hypertriglyceridemia
Active, not recruiting
Clinical Decision Support for Familial Hypercholesterolemia
Hypercholesterolemia, Familial, Clinical Decision Support
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.
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 Isfahan University of Medical Sciences at 1 site in Iran.
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 2 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: status not confirmed, as of the sponsor's last update on 16 Aug 2016. 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 Iran. 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 Mohammad reza Sabri, MD (03136682736 ext. 0098, sabrimrs@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Patients with FH. (time frame: 1 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 16 Aug 2016.