Developing and Implementing Familial Hypercholesterolemia Registry

NCT ID: NCT02865694

Last Updated: 2016-08-16

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 500 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-08-31
• Study Completion Date: 2021-09-30

Brief 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.

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

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Interventions

Cascade

Intervention Type: OTHER

Eligibility Criteria

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.

• Minimum Eligible Age: 2 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Isfahan University of Medical Sciences

OTHER

Sponsor Role: lead

Responsible Party

Mohamamd Reza Sabri

Head of Pediatric Cardio vascular research Center

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

Isfahan Cardio vascular Research Institute

Isfahan, , Iran

Site Status: RECRUITING

Countries

Iran

Central Contacts

Mohammad reza Sabri, MD

Role: CONTACT

sabrimrs@gmail.com

03136682736 ext. 0098

Facility Contacts

Mohammad reza Sabri, MD

Role: primary

sabrimrs@gmail.com

03136682736 ext. 0098

Other Identifiers

FH-ICRI

Identifier Type: -

Identifier Source: org_study_id