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
|Condition or disease||Intervention/treatment|
|Familial Hypercholesterolemia||Other: Cascade|
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|
|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|
- Number of Patients with FH. [ Time Frame: 1 Year ]
- 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 ]
Biospecimen Retention: Samples With DNA
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
|Contact: Mohammad reza Sabri, MD||03136682736 ext email@example.com|
|Iran, Islamic Republic of|
|Isfahan Cardio vascular Research Institute||Recruiting|
|Isfahan, Iran, Islamic Republic of|
|Contact: Mohammad reza Sabri, MD 03136682736 ext 0098 firstname.lastname@example.org|
|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|