UMIN-CTR Clinical Trial

Basic information
Public title	Impact of Genetic Testing on Low-density Lipoprotein Cholesterol in Patients with Familial Hypercholesterolemia
Acronym	GenTLe-FH study
Scientific Title	Impact of Genetic Testing on Low-density Lipoprotein Cholesterol in Patients with Familial Hypercholesterolemia
Scientific Title:Acronym	GenTLe-FH study
Region	Japan

Condition
Condition	Familial hypercholesterolemia
Classification by specialty	Cardiology Endocrinology and Metabolism Adult Child
Classification by malignancy	Others
Genomic information	YES

Objectives
Narrative objectives1	To evaluate whether genetic test and counseling in addition to usual patient education is associated with low-density lipoprotein (LDL) cholesterol in patients with familial hypercholesterolemia.
Basic objectives2	Efficacy
Basic objectives -Others
Trial characteristics_1	Confirmatory
Trial characteristics_2
Developmental phase

Assessment
Primary outcomes	LDL cholesterol levels at 24 weeks after randomization.
Key secondary outcomes	Blood test results (total cholesterol, triglyceride, HDL-C, LDL-C, FBG, HbA1C, WBC, RBC, Hemoglobin, Hematocrit, Platelet, ALT, AST, gamma GTP, ALP, T-Bil. Cr, BUN. TP, Alb, UA, Na, K, Cl, Ca, P, hsCRP), smoking habit, drug adherence, and patient satisfaction questionnaire (PSQ-18) score at 24 and 48 weeks after randomization between intervention/control and/or genetic test positive / negative groups.

Base
Study type	Interventional

Study design
Basic design	Parallel
Randomization	Randomized
Randomization unit	Individual
Blinding	Open -but assessor(s) are blinded
Control	Active
Stratification	YES
Dynamic allocation
Institution consideration
Blocking
Concealment	Central registration

Intervention
No. of arms	2
Purpose of intervention	Prevention
Type of intervention	Gene
Interventions/Control_1	In addition to usual familial hypercholesterolemia (FH) patients' education, we perform genetic tests for genes associated with FH (LDLR, PCSK9, APOB, and LDLRAP1), and individual genetic counseling regarding the genetic test result and his/her future cardiovascular risk.
Interventions/Control_2	Usual FH patients' education
Interventions/Control_3
Interventions/Control_4
Interventions/Control_5
Interventions/Control_6
Interventions/Control_7
Interventions/Control_8
Interventions/Control_9
Interventions/Control_10

Eligibility
Age-lower limit	15 years-old <=
Age-upper limit	Not applicable
Gender	Male and Female
Key inclusion criteria	1) Diagnosed with familial hypercholesterolemia by criteria from the Japan Atherosclerosis Society. 2) Patients who have never got genetic tests, or have not yet returned genetic results regarding familial hypercholesterolemia. 3) Patients who can provide written informed consent
Key exclusion criteria	1) Liver dysfunction (AST or ALT > 3 times the UNL) 2) Renal dysfunction (Cr 2.0 mg/dL or greater) 3) Immunosuppression 4) Active cancer 5) Previous history of coronary heart disease: i) Myocardial infarction ii) History of percutaneous coronary intervention iii) Coronary stenosis (75% or greater) previously detected by coronary angiography 6) Female with pregnancy or expected 7) Patients whose doctors in charge consider him/her inappropriate to participate
Target sample size	100

Research contact person
Last name of lead principal investigator	1st name Middle name Last name Akihiro Nomura
Organization	Kanazawa University
Division name	Innovative Clinical Research Center (iCREK)
Zip code
Address	13-1 Takara-machi Kanazawa Ishikawa
TEL	076-265-2049
Email	anomura@med.kanazawa-u.ac.jp

Public contact
1st name of contact person	1st name Middle name Last name Akihiro Nomura
Organization	Kanazawa University
Division name	Innovative Clinical Research Center (iCREK)
Zip code
Address	13-1 Takara-machi Kanazawa Ishikawa
TEL	076-265-2049
Homepage URL	http://icrek.w3.kanazawa-u.ac.jp
Email	anomura@med.kanazawa-u.ac.jp

Sponsor
Institute	Kanazawa University Hospital
Institute
Department

Funding Source
Organization	None.
Organization
Division
Category of Funding Organization	Self funding
Nationality of Funding Organization

Other related organizations
Co-sponsor
Name of secondary funder(s)

IRB Contact (For public release)
Organization
Address
Tel
Email

Secondary IDs
Secondary IDs	NO
Study ID_1
Org. issuing International ID_1
Study ID_2
Org. issuing International ID_2
IND to MHLW

Institutions
Institutions

Other administrative information
Date of disclosure of the study information	2017 Year 10 Month 02 Day

Related information
URL releasing protocol
Publication of results	Unpublished

Result
URL related to results and publications
Number of participants that the trial has enrolled
Results
Results date posted
Results Delayed
Results Delay Reason
Date of the first journal publication of results
Baseline Characteristics
Participant flow
Adverse events
Outcome measures
Plan to share IPD
IPD sharing Plan description

Progress
Recruitment status	Terminated
Date of protocol fixation	2017 Year 09 Month 29 Day
Date of IRB	2017 Year 10 Month 02 Day
Anticipated trial start date	2017 Year 10 Month 02 Day
Last follow-up date	2020 Year 03 Month 31 Day
Date of closure to data entry
Date trial data considered complete
Date analysis concluded

Other
Other related information

Management information
Registered date	2017 Year 10 Month 02 Day
Last modified on	2019 Year 05 Month 13 Day

Link to view the page
URL(English)	https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000033570