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Trial record 13 of 152 for:    "familial hypercholesterolemia"

Developing and Implementing Familial Hypercholesterolemia Registry

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ClinicalTrials.gov Identifier: NCT02865694
Recruitment Status : Recruiting
First Posted : August 12, 2016
Last Update Posted : August 16, 2016
Sponsor:
Information provided by (Responsible Party):
Mohamamd Reza Sabri, Isfahan University of Medical Sciences

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.

Condition or disease Intervention/treatment
Familial Hypercholesterolemia 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 [Patient Registry]
Estimated Enrollment : 500 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: Developing and Implementing Familial Hypercholesterolemia Registry in Isfahan, Iran: Cascade Screening, Management and Long-term Follow up.
Study Start Date : August 2016
Estimated Primary Completion Date : September 2017
Estimated Study Completion Date : September 2021

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  1. Number of Patients with FH. [ Time Frame: 1 Year ]

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

Biospecimen Retention:   Samples With DNA
Plasma, buffy coat, blood.


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Ages Eligible for Study:   2 Years to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients from clinical laboratory.
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.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02865694


Contacts
Contact: Mohammad reza Sabri, MD 03136682736 ext 0098 sabrimrs@gmail.com

Locations
Iran, Islamic Republic of
Isfahan Cardio vascular Research Institute Recruiting
Isfahan, Iran, Islamic Republic of
Contact: Mohammad reza Sabri, MD    03136682736 ext 0098    sabrimrs@gmail.com   
Principal Investigator: Nizal Sarrafzadegan, MD         
Principal Investigator: Sina Arabi, Medical Student         
Principal Investigator: Shaghayegh Haghjoo, PhD         
Principal Investigator: Golnaz Vaseghi, PhD         
Principal Investigator: Mozhgan Gharipour, PhD         
Sponsors and Collaborators
Isfahan University of Medical Sciences

Responsible Party: Mohamamd Reza Sabri, Head of Pediatric Cardio vascular research Center, Isfahan University of Medical Sciences
ClinicalTrials.gov Identifier: NCT02865694     History of Changes
Other Study ID Numbers: FH-ICRI
First Posted: August 12, 2016    Key Record Dates
Last Update Posted: August 16, 2016
Last Verified: August 2016

Additional relevant MeSH terms:
Hypercholesterolemia
Hyperlipoproteinemia Type II
Hyperlipidemias
Dyslipidemias
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Hyperlipoproteinemias