UMIN-CTR Clinical Trial

Unique ID issued by UMIN UMIN000024288
Receipt number R000027931
Scientific Title Pilot study of return of genetic results to individual participants of the large cohort study
Date of disclosure of the study information 2016/10/06
Last modified on 2023/04/10 15:12:38

* This page includes information on clinical trials registered in UMIN clinical trial registed system.
* We don't aim to advertise certain products or treatments


Basic information

Public title

Pilot study of return of genetic results to individual participants of the large cohort study

Acronym

Pilot study of return of genetic results to individual participants of the large cohort study

Scientific Title

Pilot study of return of genetic results to individual participants of the large cohort study

Scientific Title:Acronym

Pilot study of return of genetic results to individual participants of the large cohort study

Region

Japan


Condition

Condition

familial hypercholesterolemia

Classification by specialty

Endocrinology and Metabolism Not applicable Adult

Classification by malignancy

Others

Genomic information

YES


Objectives

Narrative objectives1

The aim of this exploratory study is to establish the framework and system of return of individual genetic results for research participants in the large biobank-based population cohort. We measure the psychosocial impact of return of the genetic results of familial hypercholesterolemia.

Basic objectives2

Others

Basic objectives -Others

Attitudes, psychosocial impacts, distress and experiences of return of the genetic results of familial hypercholesterolemia

Trial characteristics_1

Exploratory

Trial characteristics_2

Explanatory

Developmental phase



Assessment

Primary outcomes

Primary outcome: Psychosocial impacts, distress and experiences of return of genetic results
Measures: K6, POMS2, IES-R, Questionnaire for genetic literacy, Questionnaires and interviews for experiences of return of genetic results
Timeline: Pre, post, after 6 months, 12 months

Key secondary outcomes

Secondary outcome:
1) Validation of genetic analysis
2) Attitudes, satisfactions, and effects of Genetic Lecture


Base

Study type

Interventional


Study design

Basic design

Single arm

Randomization

Non-randomized

Randomization unit


Blinding

Open -no one is blinded

Control

Self control

Stratification

NO

Dynamic allocation

NO

Institution consideration

Institution is not considered as adjustment factor.

Blocking

NO

Concealment

No need to know


Intervention

No. of arms

1

Purpose of intervention

Educational,Counseling,Training

Type of intervention

Other

Interventions/Control_1

Participants of Tohoku Medical Megabank Cohort, with age over 20 years-old, and TC>250 mg/dl, and/or LDL-C>180 mg/dl, and/or a history of treatments of hyperlipidemia are returned the genetic results of familial hypercholesterolemia (LDLR, PCSK9, APOB), after the informed consent of this pilot study.

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



Eligibility

Age-lower limit

20 years-old <=

Age-upper limit


Not applicable

Gender

Male and Female

Key inclusion criteria

1) Participants of Tohoku Medical Megabank Cohort
2) Age over 20 years-old
3) Participants whose genome was analyzed
4) TC>250 mg/dl, and/or LDL-C>180 mg/dl, and/or a history of treatments of hyperlipidemia

Key exclusion criteria

Participants who checked : No return of results

Target sample size

135


Research contact person

Name of lead principal investigator

1st name HIROSHI
Middle name
Last name KAWAME

Organization

Tohoku University Tohoku Medical Megabank Organization

Division name

Group of return of genomic results

Zip code

9808573

Address

980-8573 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan

TEL

022-274-6017

Email

hkawame@megabank.tohoku.ac.jp


Public contact

Name of contact person

1st name HIROSHI
Middle name
Last name KAWAME

Organization

Tohoku University Tohoku Medical Megabank Organization

Division name

Group of return of genomic results

Zip code

9808573

Address

980-8573 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan

TEL

022-274-5998

Homepage URL


Email

hkawame@megabank.tohoku.ac.jp


Sponsor or person

Institute

Tohoku University Tohoku Medical Megabank Organization

Institute

Department

Personal name



Funding Source

Organization

AMED (Japan Agency of Medical Research and Development)

Organization

Division

Category of Funding Organization

Government offices of other countries

Nationality of Funding Organization

Japan


Other related organizations

Co-sponsor

Iwate Tohoku Medical Megabank Organization

Name of secondary funder(s)



IRB Contact (For public release)

Organization

Tohoku University Tohoku Medical Megabank Organization

Address

980-8573 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan

Tel

022-728-3965

Email

tommo-ken@grp.tohoku.ac.jp


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

東北メディカル・メガバンク機構(宮城県)
地域支援気仙沼センター(宮城県)
地域支援大崎センター(宮城県)
地域支援石巻センター(宮城県)
地域支援多賀城センター(宮城県)
地域支援仙台センター(宮城県)
地域支援岩沼センター(宮城県)
地域支援白石センター(宮城県)


Other administrative information

Date of disclosure of the study information

2016 Year 10 Month 06 Day


Related information

URL releasing protocol

none

Publication of results

Partially published


Result

URL related to results and publications

none

Number of participants that the trial has enrolled

196

Results

Hiroshi Kawame 1, Akimune Fukushima 2, Nobuo Fuse 3, et al. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. J Hum Genet. 2022 Jan;67(1):9-17. doi: 10.1038/s10038-021-00952-8. Epub 2021 Jul 8

Results date posted

2023 Year 04 Month 10 Day

Results Delayed


Results Delay Reason


Date of the first journal publication of results


Baseline Characteristics

ostensibly healthy individuals in Miyagi and Iwate prefectures

Participant flow

The invitation letter about participation in the research was sent to the primary subjects via mail. After receiving a reply from those who wish to participate, they were selected as secondary subjects. Those subjects attended a genetic workshop about heredity and familial hypercholesterolemia, and obtained informed consent would be the final subjects. Blood sampling was performed to confirm genetic variants on genes of FH analyzed at Tohoku University Tohoku Medical Megabank Organization. Face-to-face explanation of the results of genome analysis . The final subjects have a questionnaire survey for 12 months after the results are disclosed.

Adverse events

None

Outcome measures

Primary outcome
Psychosocial distress, experiences, opinion and attitudes to return of individual genomic results regarding familial hypercholesterolemia (FH)

Secondary outcome
1) Concordance of genomic analysis data by retesting
2) Satisfaction, usefulness, and awareness of genetic workshop

Plan to share IPD


IPD sharing Plan description



Progress

Recruitment status

Preinitiation

Date of protocol fixation

2016 Year 09 Month 15 Day

Date of IRB


Anticipated trial start date

2016 Year 11 Month 01 Day

Last follow-up date

2018 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

2016 Year 10 Month 04 Day

Last modified on

2023 Year 04 Month 10 Day



Link to view the page

Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000027931


Research Plan
Registered date File name

Research case data specifications
Registered date File name

Research case data
Registered date File name