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

Phase 2

• Conditions: Familial hypercholesterolemia

• Registration Number: JPRN-jRCTs042180027
• Lead Sponsor: omura Akihiro

Brief Summary

We obtained written informed consent from 53 participants from April 2018. Then, we randomly allocated 50 patients to the intervention group (24 patients) or to the control (26 patients). The mean baseline LDL cholesterol levels were 132.7 mg/dL in the intervention group and 120.8 mg/dL in the control group. At week 24, mean changes of LDL-C from baseline were significantly larger in the intervention group than in control.

Detailed Description

Not available

Study Timeline

• Study Start: 2019-01-22
• Study Completion: 2021-11-01
• Results First Posted: 2022-03-12
• Last Update Posted: 17 October 2023

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 53

Inclusion Criteria

We 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

Exclusion Criteria

We 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

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
The plasma LDL cholesterol levels at 24 weeks

Secondary Outcome Measures

Name	Time	Method
Secondary 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.