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Genetic identification of hereditary cystic kidney diseases for implementing precision medicine

Status Approved

First Submitted Date

2020/11/02
Registered Date

2020/11/05
Last Updated Date

2020/11/02

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CRIS Required

WHO ICTRP (International Clinical Trial Registry Platform) Required

1. Background

Background - CRIS Registration Number, Unique Protocol ID, Public/Brief Title, Scientific Title, Acronym, MFDS Regulated Study, IND/IDE Protocol, Registered at Other Registry, Name of Registry/Registration Number
CRIS Registration Number	KCT0005580
Unique Protocol ID	H-1907-067-1047
Public/Brief Title	Genetic identification and genotype-phenotype study in inherited cystic kidney disease
Scientific Title	Genetic identification of hereditary cystic kidney diseases for implementing precision medicine
Acronym	iCKD study
MFDS Regulated Study	No
IND/IDE Protocol	No
Registered at Other Registry	No
Healthcare Benefit Approval Status	Not applicable

2. Institutional Review Board / Ethics Committee

Institutional Review Board Information
Board Approval Status	Submitted approval
Board Approval Number	H-1907-067-1047
Approval Date	2019-10-07
Institutional Review Board Name	Seoul National University Hospital Institutional Review Board
Institutional Review Board Address	103, Daehak-ro, Jongno-gu, Seoul
Institutional Review Board Telephone	02-2072-0694
Data Monitoring Committee	No

3. Contact Details

Contact Details Information - Contact Person for Principal Investigator / Scientific Queries, Contact Person for Public Queries, Contact Person for Updating Information의 Name, Title, Email, Telephone, Cellular Phone, Affiliation, Address
Contact Person for Principal Investigator / Scientific Queries
Name	Kook-Hwan Oh
Title	Professor
Telephone	+82-2-2072-0776
Affiliation	Seoul National University Hospital
Address	101 Daehak-ro, Jongro-gu
Contact Person for Public Queries
Name	Hayne Cho Park
Title	Associate Professor
Telephone	+82-2-829-5214
Affiliation	Hallym University Medical Center-Kangnam
Address	1, Singil-ro, Yeongdeungpo-gu
Contact Person for Updating Information
Name	Hayne Cho Park
Title	Associate Professor
Telephone	+82-2-829-5214
Affiliation	Hallym University Medical Center-Kangnam
Address	1, Singil-ro, Yeongdeungpo-gu

4. Status

Status Information - Study Site, Overall Recruitment Status, Date of First Enrollment, Status of First Enrollment, Target Number of Participant, Primary Completion Date, Recruitment Status by Participating Study Site, Name of Study Site, Recruitment Status, Date of First Enrollment, Status of First Enrollemnt
Recruitment Status by Participating Study Site 1
Study Site	Multi-center Number of center : 8
Overall Recruitment Status	Recruiting
Date of First Enrollment	2019-10-07 Actual
Target Number of Participant	1200
Primary Completion Date	2022-05-18 , Anticipated
Study Completion Date	2022-05-18 , Anticipated
Name of Study	Seoul Metropolitan Government Seoul National University Boramae Medical Center
Recruitment Status	Recruiting
Date of First Enrollment	2019-10-18 ,
Recruitment Status by Participating Study Site 2
Name of Study	Chonnam National University Hospital
Recruitment Status	Recruiting
Date of First Enrollment	2019-12-11 ,
Recruitment Status by Participating Study Site 3
Name of Study	Inje University Busan Paik Hospital
Recruitment Status	Recruiting
Date of First Enrollment	2019-12-16 ,
Recruitment Status by Participating Study Site 4
Name of Study	Kangbuk Samsung Medical Center
Recruitment Status	Recruiting
Date of First Enrollment	2019-11-26 ,
Recruitment Status by Participating Study Site 5
Name of Study	Keimyung University Dongsan Hospital
Recruitment Status	Recruiting
Date of First Enrollment	2019-11-14 ,
Recruitment Status by Participating Study Site 6
Name of Study	Hallym University Medical Center-Kangnam
Recruitment Status	Recruiting
Date of First Enrollment	2019-11-11 ,
Recruitment Status by Participating Study Site 7
Name of Study	Seoul National University Bundang Hospital
Recruitment Status	Recruiting
Date of First Enrollment	2020-05-11 ,
Recruitment Status by Participating Study Site 8
Name of Study	Seoul National University Hospital
Recruitment Status	Recruiting
Date of First Enrollment	2019-10-07 ,

5. Source of Monetary / Material Support

Source of Monetary / Material Support Information - Organization Name, Organization Type, Project ID
1. Source of Monetary/Material Support
Organization Name	Korea Disease Control and Prevention Agency
Organization Type	Government
Project ID	2019-ER7304

6. Sponsor Organization

Sponsor Organization Information - Organization Name, Organization Type
1. Sponsor Organization
Organization Name	Seoul National University Hospital
Organization Type	Medical Institute

7. Study Summary

Study Summary Information
Lay Summary	During the entire study period, more than 800 cases of Korean hereditary cystic kidney disease and their households will be enrolled. A comprehensive database including clinical and image information, human samples, follow-up data, and genotypes will be constructed. Based on this database, genetic characteristics associated with severe disease and variable expression will be identified through genotype-phenotype association study.

Study Summary Information

Lay Summary

During the entire study period, more than 800 cases of Korean hereditary cystic kidney disease and their households will be enrolled. A comprehensive database including clinical and image information, human samples, follow-up data, and genotypes will be constructed. Based on this database, genetic characteristics associated with severe disease and variable expression will be identified through genotype-phenotype association study.

8. Study Design

Study Design Information - Study Type, Observational Study Model, Time Perspective, Target Number of Participant, Cohort/Group Number, Cohort/Group, Cohort/Group Label, Cohort/Group Description, Biospecimen Collection & Archiving, Biospecimen Description
Study Type	Observational Study
Observational Study Model	Cohort
Time Perspective	Prospective
Target Number of Participant	1200
Cohort/Group Number	1
Cohort/ Group 1	Cohort/Group Label Patients with inherited cystic kideny disease
Cohort/ Group 1	Cohort/Group Description Autosomal dominant polycystic kidney disease according to Pei-Ravine criteria or other cystic kidney disease with more than 3 cysts in unilateral or bilateral kidneys
Biospecimen Collection & Archiving	: DNA Collect & Archive: Sample with DNA
Biospecimen Description	Whole blood

9. Subject Eligibility

Subject Eligibility Information
Study Population Description	Patients with 3 or more cysts in kidneys
Sampling Method	800 probands during 3 years and 400 family members for genetic diagnosis
Condition(s)/Problem(s)	* (Q00-Q99)Congenital malformations, deformations and chromosomal abnormalities (Q61.9)Cystic kidney disease, unspecified Inherited cystic kidney disease
Rare Disease	Yes
Inclusion Criteria	Gender Both
	Age No Limit~No Limit
	Description Patients with 3 or more cysts in kidneys - Typical ADPKD - Atypical ADPKD - Tuberous sclerosis complex - von Hippel-Lindau disease - Autosomal dominant tubulo-interstitial kidney disease - Autosomal recessive polycystic kidney disease - Nephronophthisis
Exclusion Criteria	Those who are not able to give informed consent or pregnant will be excluded from enrollment. The cases of simple renal cyst and acquired cystic kidney disease which involve cyst formation as the result of renal failure will also be excluded from this study.
Healthy Volunteers	Yes

10. Outcome Measure(s)

Outcome Measure(s) Information - Type of Primary Outcome, Primary Outcome, Outcome, Timepoint, Secondary Outcome, Outcome, Timepoint
Primary Outcome(s) 1
Type of Primary Outcome	Not applicable
Outcome	Novel cystogenesis-related genes
Timepoint	3 years
Secondary Outcome(s) 1
Outcome	Genes related to the severity of disease
Timepoint	3 years

11. Study Results and Publication

Study Results and Publication Information - Result Registered, Final Enrollment Number, Number of Publication, Publications, Results Upload, Date of Posting Results, Protocol URL or File Upload, Brief Summary
Result Registered	No

12. Sharing of Study Data(Deidentified Individual-Patient Data, IPD)

Sharing of Study Data Information - Sharing Statement, Time of Sharing, Way of Sharing
Sharing Statement	Yes
Time of Sharing	2025. 5
Way of Sharing	Available on Request (ohchris@hanmail.net)

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