임상연구정보서비스

Search: Search

The effects of GJB2 mutation on language skill in Cochlear Implantation

Status Approved

First Submitted Date

2015/03/25
Registered Date

2015/09/25
Last Updated Date

2017/09/30

Move list page

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	KCT0001638
Unique Protocol ID	2014-0997
Public/Brief Title	The effects of GJB2 mutation on language skill in Cochlear Implantation
Scientific Title	The effects of GJB2 mutation on language skill in Cochlear Implantation
Acronym	GJB2
MFDS Regulated Study	No
IND/IDE Protocol	No
Registered at Other Registry	No
Healthcare Benefit Approval Status

2. Institutional Review Board / Ethics Committee

Institutional Review Board Information
Board Approval Status	Submitted approval
Board Approval Number	2014-0997
Approval Date	2014-10-12
Institutional Review Board Name	Institutional Review Board of Asan Medical Center
Institutional Review Board Address
Institutional Review Board Telephone
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	Jong Woo Chung
Title
Telephone	+82-2-3010-3718
Affiliation	Asan Medical Center
Address	88 Olympic-ro 43-gil, Songpa-Gu, Seoul, 138-736, Korea
Contact Person for Public Queries
Name	Jong Woo Chung
Title
Telephone	+82-2-3010-3718
Affiliation	Asan Medical Center
Address	88 Olympic-ro 43-gil, Songpa-Gu, Seoul, 138-736, Korea
Contact Person for Updating Information
Name	Jong Woo Chung
Title
Telephone	+82-2-3010-3718
Affiliation	Asan Medical Center
Address	88 Olympic-ro 43-gil, Songpa-Gu, Seoul, 138-736, Korea

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	Single
Overall Recruitment Status	Completed
Date of First Enrollment	2014-10-13 Actual
Target Number of Participant	44
Primary Completion Date	2014-12-31 , Actual
Study Completion Date	2015-02-20 , Actual
Name of Study	Asan Medical Center
Recruitment Status	Completed
Date of First Enrollment	2014-10-13 ,

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	Asan Medical Center
Organization Type	Medical Institute
Project ID	2014-0997

6. Sponsor Organization

Sponsor Organization Information - Organization Name, Organization Type
1. Sponsor Organization
Organization Name	Asan Medical Center
Organization Type	Medical Institute

7. Study Summary

Study Summary Information
Lay Summary	The proportion of GJB2 (gap junction β2-Polypeptide) encoding the protein “connexin26” (Cx26) is the most frequently mutated gene and accounts for up to 50% of cases with autosomal recessive nonsyndromic hearing loss. According to a paper published in LANCET, 1998, they obtained DNA samples from 82 families from Italy and Spain with recessive non-syndromic deafness and from 54 unrelated participants with apparently sporadic congenital deafness. They analysed the coding region of the GJB2 gene for mutations. 49% of participants with recessive deafness and 37% of sporadic cases had mutations in the GJB2 gene. In this study, the 35delG mutation accounted for 85% of GJB2 mutations. On the contrary, the 35delG mutation is rare in Korea and the 235delC and E114G are more common. The mechanism of GJB2 related hearing loss is believed to result from altered potassium recirculation in the cochlea leading to accumulation of potassium in the cochlear endolymph and causing hair cell dysfunction but further research is still necessary. In our retrospective study, we demonstrate long term effect of CI in children with pre-lingual GJB2-related deafness. We have studied the speech perception outcome of CI in children with GJB2 gene mutations, and compared them to those in matched children without inherited hearing loss.

Study Summary Information

Lay Summary

The proportion of GJB2 (gap junction β2-Polypeptide) encoding the protein “connexin26” (Cx26) is the most frequently mutated gene and accounts for up to 50% of cases with autosomal recessive nonsyndromic hearing loss. According to a paper published in LANCET, 1998, they obtained DNA samples from 82 families from Italy and Spain with recessive non-syndromic deafness and from 54 unrelated participants with apparently sporadic congenital deafness. They analysed the coding region of the GJB2 gene for mutations. 49% of participants with recessive deafness and 37% of sporadic cases had mutations in the GJB2 gene. In this study, the 35delG mutation accounted for 85% of GJB2 mutations. On the contrary, the 35delG mutation is rare in Korea and the 235delC and E114G are more common. The mechanism of GJB2 related hearing loss is believed to result from altered potassium recirculation in the cochlea leading to accumulation of potassium in the cochlear endolymph and causing hair cell dysfunction but further research is still necessary. In our retrospective study, we demonstrate long term effect of CI in children with pre-lingual GJB2-related deafness. We have studied the speech perception outcome of CI in children with GJB2 gene mutations, and compared them to those in matched children without inherited hearing loss.

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	Retrospective
Target Number of Participant	44
Cohort/Group Number	1
Cohort/ Group 1	Cohort/Group Label Sensorineural hearing loss patient
Cohort/ Group 1	Cohort/Group Description Speech evaluation (pre- and post-cochlear implantation)
Biospecimen Collection & Archiving	Not collect nor Archive
Biospecimen Description

9. Subject Eligibility

Subject Eligibility Information
Study Population Description	The sensorineural hearing loss patients with hereditary hearing loss who visited otolaryngology clinic of the Asan Medical Center from August, 2004 to July, 2008
Sampling Method	The patients who ensuring voluntarily consent of the research by using the convenience extraction
Condition(s)/Problem(s)	* (H60-H95)Diseases of the ear and mastoid process (H90.3)Sensorineural hearing loss, bilateral
Rare Disease	No
Inclusion Criteria	Gender Both
	Age No Limit~No Limit
	Description Sensorineural hearing loss patients with hereditary hearing loss who underwent genetic testing and cochlear implant surgery in pre-lingual age (The patients included in this study underwent genetic testing voluntarily from August, 2004 to July, 2008)
Exclusion Criteria	The patients who underwent Cochlear Implantation surgery in post-lingual age, and the patients with developmental difficulties, and also congenital anomaly were exclued
Healthy Volunteers	No

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	Speech perception outcomes after Cochlear Implantation
Timepoint	Speech perception outcomes were measured using the closed set, open set 1 & 2 syllable and comprehensions at the time of 1, 6, 12, 24, 36, 48, 60, 120 months after cochlear implantation
Secondary Outcome(s) 1
Outcome	Change of speech perception outcomes after Cochlear Implantation
Timepoint	Speech perception outcomes were measured using the closed set, open set 1 & 2 syllable and comprehensions at the time of 1, 6, 12, 24, 36, 48, 60, 120 months after cochlear implantation

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

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	Not provided at time of Registration

Move list page Move to top