Developing and Implementing Familial Hypercholesterolemia Registry

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.

Study Overview

• Status: Unknown
• Conditions: Familial Hypercholesterolemia
• Intervention / Treatment: Other: Cascade

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 Type: Observational
• Enrollment (Anticipated): 500

Contacts and Locations

Study Locations

• Iran, Islamic Republic of
  • Isfahan, Iran, Islamic Republic of
    • Recruiting
    • Isfahan Cardio vascular Research Institute
    • Principal Investigator: Nizal Sarrafzadegan, MD
    • Contact: Mohammad reza Sabri, MD; Phone Number: 0098 03136682736; Email: sabrimrs@gmail.com
    • Principal Investigator: Sina Arabi, Medical Student
    • Principal Investigator: Shaghayegh Haghjoo, PhD
    • Principal Investigator: Golnaz Vaseghi, PhD
    • Principal Investigator: Mozhgan Gharipour, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years to 80 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Patients from clinical laboratory.

Description

Inclusion Criteria:

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.

Exclusion Criteria:

Hyperlipidemia with underlying disorders.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Number of Patients with FH.	1 Year

Secondary Outcome Measures

Outcome Measure	Time Frame
Number of premature cardio vascular events annually follow-up.	5 Years
Low Density Lipoprotein (LDL-C) at base line and during annually follow-up.	1 Year
High density lipoprotein (HDL) at base line and during annually follow-up.	1 Year
triglyceride (TG) at base line and during annually follow-up.	1 Year
LDL-receptor frequency of mutation in Persian population.	1 Year
PCSK9 frequency of mutation in Persian population.	1 Year
Apo-B frequency of mutation in Persian population.	1 Year

Collaborators and Investigators

• Sponsor: Isfahan University of Medical Sciences

Study record dates

Study Major Dates

• Study Start: August 1, 2016
• Primary Completion (Anticipated): September 1, 2017
• Study Completion (Anticipated): September 1, 2021

Study Registration Dates

• First Submitted: August 10, 2016
• First Submitted That Met QC Criteria: August 10, 2016
• First Posted (Estimate): August 12, 2016

Study Record Updates

• Last Update Posted (Estimate): August 16, 2016
• Last Update Submitted That Met QC Criteria: August 13, 2016
• Last Verified: August 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Hyperlipidemias; Dyslipidemias; Lipid Metabolism, Inborn Errors; Hyperlipoproteinemias; Hypercholesterolemia; Hyperlipoproteinemia Type II
• Other Study ID Numbers: FH-ICRI