UMIN-CTR Clinical Trial

Public title

Research on the Frequency of Genetically Confirmed Familial Hypercholesterolemia

Acronym

Research on the Frequency of Genetically Confirmed Familial Hypercholesterolemia

Scientific Title

Research on the Frequency of Genetically Confirmed Familial Hypercholesterolemia

Scientific Title:Acronym

Research on the Frequency of Genetically Confirmed Familial Hypercholesterolemia

Region

Japan

Condition

Familial Hypercholesterolemia

Classification by specialty

Cardiology

Classification by malignancy

Others

Genomic information

YES

Narrative objectives1

The objectives of this research are to analyze the frequency of genetically confirmed FH among the patient population clinically suspected of FH, and to examine the relationship between clinical FH and genetic FH.

Basic objectives2

Others

Basic objectives -Others

Since familial hypercholesterolemia (hereinafter, abbreviated as FH) presents a high risk of the occurrence of early cardiovascular disease and shows a poor prognosis, early diagnosis and treatment are important. Moreover, by diagnosing FH patients, it becomes possible to discover FH patients in their family members and to conduct treatment early. In Japan, it has been suggested that the FH heterozygote may exist at a frequency as high as 1 in 200 to 500 persons. However, due to the large number patients, it is difficult to conduct genetic testing on all patients suspected of having heterozygous FH from an economic and personnel perspective. Moreover, it was reported that the diagnostic rate of FH heterozygotes is very low (Eur Heart J 2013; 34: 3478-). The objectives of this research are to analyze the frequency of genetically confirmed FH among the patient population clinically suspected of FH, and to examine the relationship between clinical FH and genetic FH.

Trial characteristics_1

Trial characteristics_2

Developmental phase

Primary outcomes

Genetic mutation via genetic testing

Target genes: LDLR, PCSK9, STAP1, APOB, APOE, and LDLRAP1

Key secondary outcomes

Study type

Observational

Basic design

Randomization

Randomization unit

Blinding

Control

Stratification

Dynamic allocation

Institution consideration

Blocking

Concealment

No. of arms

Purpose of intervention

Type of intervention

Interventions/Control_1

Interventions/Control_2

Interventions/Control_3

Interventions/Control_4

Interventions/Control_5

Interventions/Control_6

Interventions/Control_7

Interventions/Control_8

Interventions/Control_9

Interventions/Control_10

Age-lower limit

Not applicable

Age-upper limit

65

years-old

>

Gender

Male and Female

Key inclusion criteria

Based on the Clinical Practice Guidelines for FH in 2017, patients satisfying the following items 1) and 2), as well as their parents, brothers and sisters, etc. (blood relatives within the 6th degree of relationship, spouses, or relatives within the 3rd degree of relationship by marriage) will be selected from the patient population who have undergone PCI treatment in the Department of Cardiology, and their participation in the research will be requested. 1) Past medical history of premature CVD (premature: <55 years of age for males and <65 years of age for females), And 2) A blood LDL-C value of >=70 mg/dL after treatment with existing lipid-lowering medications. Since this research is not an epidemiological study, a control group has not been established.

Key exclusion criteria

Not applicable.

Target sample size

52

Name of lead principal investigator

1st name	Yoshinori
Middle name	KATSUMATA
Last name	Katsumata

Organization

Keio University

Division name

Department of Cardiology

Zip code

160-8582

Address

35 Shinanomachi Shinjuku-ku

TEL

0333531211

Email

goodcentury21@keio.jp

Name of contact person

1st name	YOSHINORI
Middle name	KATSUMATA
Last name	Katsumata

Organization

Keio University

Division name

Department of Cardiology

Zip code

160-8582

Address

35 Shinanomachi Shinjuku-ku

TEL

0333531211

Homepage URL

Email

goodcentury21@keio.jp

Institute

Keio University

Institute

Department

Personal name

Organization

RECORDATI RARE DISEASES JAPAN K.K.

Organization

Division

Category of Funding Organization

Profit organization

Nationality of Funding Organization

Co-sponsor

Name of secondary funder(s)

Organization

Keio University

Address

35 Shinanomachi Shinjuku-ku

Tel

0333531211

Email

goodcentury21@gmail.com

Secondary IDs

NO

Study ID_1

Org. issuing International ID_1

Study ID_2

Org. issuing International ID_2

IND to MHLW

Institutions

Date of disclosure of the study information

2020

Year

04

Month

01

Day

URL releasing protocol

https://center6.umin.ac.jp/cgi-open-bin/ctr/ctr_view.cgi?recptno=R000045447

Publication of results

Published

URL related to results and publications

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162874/

Number of participants that the trial has enrolled

52

Results

There were no obvious indicators for the diagnosis of FH in the patient's background or clinical course.

Results date posted

2023

Year

09

Month

20

Day

Results Delayed

Results Delay Reason

Date of the first journal publication of results

Baseline Characteristics

Of 63 consecutive EOCAD patients (men <55 years or women <65 years) who underwent percutaneous coronary intervention (PCI) at Keio University Hospital from 2013 to 2019, 52 were included in this retrospective study. agreed to participate.

Participant flow

The content of the study was explained and written consent was obtained.

Adverse events

none

Outcome measures

Genetic mutation via genetic testing

Plan to share IPD

IPD sharing Plan description

Recruitment status

Completed

Date of protocol fixation

2019

Year

10

Month

23

Day

Date of IRB

2018

Year

06

Month

25

Day

Anticipated trial start date

2020

Year

04

Month

01

Day

Last follow-up date

2021

Year

09

Month

30

Day

Date of closure to data entry

2021

Year

09

Month

30

Day

Date trial data considered complete

Date analysis concluded

Other related information

Based on the Clinical Practice Guidelines for FH in 2017, patients satisfying: 1) a past medical history of premature CVD (premature: <55 years of age for males and <65 years of age for females), and 2) a blood LDL-C value of >=70mg/dL after treatment with existing lipid-lowering medications will be selected from the patient population who have undergone PCI treatment in the Cardiology Department, and genetic testing will be conducted on all patients from whom consent has been obtained. The composition (e.g., the proportions of heterozygotes and homozygotes) of the patients with genetically confirmed FH in clinical FH will be verified.

For patients visiting the Department of Cardiology of Keio University Hospital as well as their family members, genetic counseling before and after testing will be provided, and a genetic mutation analysis will be conducted in the Department of Cardiology of the Keio University School of Medicine, including the collection of clinical data (sex, age, main symptoms, etc.) and samples to examine the correlation between mutations and clinical symptoms.

Genomic analyses will be conducted by Grifols S. A. (Progenika, Inc. (U.S.A.)). Only anonymized IDs and genetic samples will be sent to this institution for analysis. In addition, regarding the provision of samples to other institutions, an explanation will be made to each subject via the informed consent form, and a signature will be obtained in writing.

Registered date

2020

Year

03

Month

17

Day

Last modified on

2023

Year

09

Month

20

Day

Link to view the page

Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000045447