NIPH Clinical Trials Search

JRCT ID: jRCTs042180027

Registered date:22/01/2019

Impact of Genetic Testing on Low-density Lipoprotein Cholesterol in Patients with Familial Hypercholesterolemia

Basic Information

Recruitment status Complete
Health condition(s) or Problem(s) studiedFamilial hypercholesterolemia
Date of first enrollment03/04/2018
Target sample size100
Countries of recruitment
Study typeInterventional
Intervention(s)We will perform genetic counseling besides standard FH patient education. In addition, a single qualified doctor will inform genetically estimated future cardiovascular risk based on the result of genetic testing. Genetic counseling will comprise the following: (a) genetic diagnosis; (b) outline of what FH is; (c) checking family history of hyperlipidemia/cardiovascular diseases; (d) informing that the results of genetic testing could facilitate the research in this field; and (e) explaining the physical/mental support system in our hospital. Of note, this counseling will be provided by a qualified physician of clinical genetics. In addition, we will inform odds ratios of future cardiovascular risk, based on the presence or absence of 1) a causal genetic variant and 2) a clinical sign (xanthomas and/or family history of FH) by using the original Japanese documents (Supplemental Data 2).8 9 After counseling we will set time to answer the queries of patients adequately, confirming their level of understanding.


Primary OutcomeThe plasma LDL cholesterol levels at 24 weeks
Secondary OutcomeSecondary endpoints assessed at 24 and 48 weeks are as follows: blood test results; smoking status; changes of lipid-lowering agents' regimen; and Patients Satisfaction Questionnaire Short Form (PSQ-18) scores between the intervention and control groups or among the four groups taking genetic testing results (positive or negative) into consideration.

Key inclusion & exclusion criteria

Age minimum>= 15age old
Age maximumNot applicable
Include criteriaWe include the patients with all the following criteria: 1) Age equal or more than 15 years 2) Diagnosed with familial hypercholesterolemia per the criteria of the Japan Atherosclerosis Society 3) Patients who have never got genetic tests, or have not yet returned genetic results regarding familial hypercholesterolemia 4) Patients who can provide written informed consent
Exclude criteriaWe exclude patients with either of the following criteria: 1) Liver dysfunction (AST or ALT > 3 times the UNL) 2) Renal dysfunction (Cr equal or more than 2.0 mg/dL) 3) Immunosuppression 4) Active cancer 5) Previous history of coronary heart disease: i) Myocardial infarction ii) History of percutaneous coronary intervention or coronary artery bypass graft iii) Coronary stenosis (equal or more than 75%) previously detected by coronary angiography 6) Female with pregnancy or expected 7) Patients whose doctors in charge consider him/her inappropriate to participate

Related Information


Public contact
Name Akihiro Nomura
Address 13-1 Takaramachi Kanazawa Ishikawa Ishikawa Japan 920-8641
Telephone +81-76-265-2049
Affiliation Kanazawa University
Scientific contact
Name Akihiro Nomura
Address 13-1 Takaramachi Kanazawa Ishikawa Ishikawa Japan 920-8641
Telephone +81-76-265-2049
Affiliation Kanazawa University