Developing and Implementing Familial Hypercholesterolemia Registry

Familial Hypercholesterolemia Clinical Trial

Official title:

Developing and Implementing Familial Hypercholesterolemia Registry in Isfahan, Iran: Cascade Screening, Management and Long-term Follow up.

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02865694
• Other study ID #: FH-ICRI
• Status: Recruiting
• Phase: N/A
• First received: August 10, 2016
• Last updated: August 13, 2016
• Start date: August 2016
• Est. completion date: September 2021

Study information

• Verified date: August 2016
• Source: Isfahan University of Medical Sciences
• Contact: Mohammad reza Sabri, MD
• Phone: 03136682736
• Email: sabrimrs[@]gmail.com
• Is FDA regulated: No
• Health authority: Iran: Ministry of Health
• Study type: Observational [Patient Registry]

Clinical 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. 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: September 2021
• Est. primary completion date: September 2017
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 2 Years to 80 Years

Eligibility

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 Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Familial Hypercholesterolemia
• Hypercholesterolemia
• Hyperlipoproteinemia Type II

Intervention

Other:
• Cascade

Locations

Country	Name	City	State
Iran, Islamic Republic of	Isfahan Cardio vascular Research Institute	Isfahan

Sponsors (1)

Lead Sponsor	Collaborator
Isfahan University of Medical Sciences

Country where clinical trial is conducted

Iran, Islamic Republic of, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of Patients with FH.		1 Year	Yes
Secondary	Number of premature cardio vascular events annually follow-up.		5 Years	Yes
Secondary	Low Density Lipoprotein (LDL-C) at base line and during annually follow-up.		1 Year	Yes
Secondary	High density lipoprotein (HDL) at base line and during annually follow-up.		1 Year	Yes
Secondary	triglyceride (TG) at base line and during annually follow-up.		1 Year	Yes
Secondary	LDL-receptor frequency of mutation in Persian population.		1 Year	Yes
Secondary	PCSK9 frequency of mutation in Persian population.		1 Year	Yes
Secondary	Apo-B frequency of mutation in Persian population.		1 Year	Yes