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

JRCT ID: jRCTs042180027

Registered date:22/01/2019

Basic Information

• Recruitment status: Complete
• Health condition(s) or Problem(s) studied: Familial hypercholesterolemia
• Date of first enrollment: 03/04/2018
• Target sample size: 100
• Study type: Interventional
• 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.

Outcome(s)

• Primary Outcome: The plasma LDL cholesterol levels at 24 weeks
• Secondary Outcome: 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.

Key inclusion & exclusion criteria

• Age minimum: >= 15age old
• Age maximum: Not applicable
• Gender: Both

Include 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

Exclude 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

Related Information

• Primary Sponsor: Nomura Akihiro
• Secondary ID(s): UMIN000029375