Ignite Creation Date:
2024-05-05 @ 6:37 PM
Last Modification Date:
2024-10-26 @ 9:35 AM
Study NCT ID:
NCT00511381
Status:
COMPLETED
Last Update Posted:
2012-03-01
First Post:
2007-08-02
Brief Title:
Genetic Testing in Detection of Late-Onset Hearing Loss
Sponsor:
Pediatrix
Organization:
Pediatrix
Study Overview
Official Title:
Utility of Genetic Testing in Detection of Late-Onset Hearing Loss
Status:
COMPLETED
Status Verified Date:
2012-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
SoundGene
Brief Summary:
Two major limitations of existing audiometric newborn hearing screening programs are their inability to detect forms of deafness that are not expressed at birth and the low compliance with obtaining recommended audiologic confirmation andor follow-up Molecular genetic tests on blood spots from all newborns will identify those at risk for the most frequent causes of late-onset hearing loss and to add these infants to the group who should receive continued audiologic monitoring
Detailed Description:
Two major limitations of existing audiometric newborn hearing screening programs are their inability to detect forms of deafness that are not expressed at birth and the low compliance with obtaining recommended audiologic confirmation andor follow-up Molecular genetic tests on blood spots from all newborns will identify those at risk for the most frequent causes of late-onset hearing loss and to add these infants to the group who should receive continued audiologic monitoring
The specific aims of this project are to
Demonstrate the utility of detecting four potentially important causes of delayed onset hearing loss by molecular tests at birth which may be missed by current audiometric screening tests
Document the frequency clinical and genetic characteristics of hearing loss associated with each condition
Dried blood spots DBS on filter paper will be obtained and be used for this project with parental informed consent from 6000 newborn infants at approximately 25 hospitals Pediatrix Screening a subsidiary of Pediatrix Medical Group with long experience in high throughput neonatal testing will perform genetic testing on the samples The four genetic and environmental forms of deafness to be studied include
Prenatalcongenital cytomegalovirus CMV infection
-Detecting the presence of CMV viral DNA in dried blood spots
Connexin Deafness - GJB2 and GJB6 mutations
- Cx26 35delG Cx26 235delC Cx26 167delT Cx26 M34T and Cx30 large deletionUnder sublicense with Athena Diagnostics Inc United States Patent Numbers 5998147 and 6485908 and patents pending
Pendred Syndrome - SLC26A mutations
- L236P 1001 1GA T416P E384G
Mitochondrial Mutations - T961C T961G G951A 961 delTCnIns G7444A A7445G A7445C
The specific aims of this project are to
Demonstrate the utility of detecting four potentially important causes of delayed onset hearing loss by molecular tests at birth which may be missed by current audiometric screening tests
Document the frequency clinical and genetic characteristics of hearing loss associated with each condition
Dried blood spots DBS on filter paper will be obtained and be used for this project with parental informed consent from 6000 newborn infants at approximately 25 hospitals Pediatrix Screening a subsidiary of Pediatrix Medical Group with long experience in high throughput neonatal testing will perform genetic testing on the samples The four genetic and environmental forms of deafness to be studied include
Prenatalcongenital cytomegalovirus CMV infection
-Detecting the presence of CMV viral DNA in dried blood spots
Connexin Deafness - GJB2 and GJB6 mutations
- Cx26 35delG Cx26 235delC Cx26 167delT Cx26 M34T and Cx30 large deletionUnder sublicense with Athena Diagnostics Inc United States Patent Numbers 5998147 and 6485908 and patents pending
Pendred Syndrome - SLC26A mutations
- L236P 1001 1GA T416P E384G
Mitochondrial Mutations - T961C T961G G951A 961 delTCnIns G7444A A7445G A7445C
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None