Genetic Testing in Detection of Late-Onset Hearing Loss - Full Text View

Sponsored by:	Pediatrix Medical Group
Information provided by:	Pediatrix Medical Group
ClinicalTrials.gov Identifier:	NCT00511381

Purpose

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 and/or 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.

Condition	Intervention
Hearing Loss Late-Onset Hearing Loss Deafness	Genetic: No intervention

Genetics Home Reference related topics: nonsyndromic deafness

MedlinePlus related topics: Hearing Disorders and Deafness

U.S. FDA Resources

Study Type:	Observational
Study Design:	Prospective
Official Title:	Utility of Genetic Testing in Detection of Late-Onset Hearing Loss

Further study details as provided by Pediatrix Medical Group:

Biospecimen Retention: None Retained

Biospecimen Description:

Estimated Enrollment:	6000
Study Start Date:	October 2007
Estimated Study Completion Date:	December 2010

Intervention Details:

No intervention

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 and/or 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 6,000 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:

Prenatal/congenital 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 deletion.(Under sublicense with Athena Diagnostics, Inc: United States Patent Numbers: 5,998,147 and 6,485,908 and patents pending)
Pendred Syndrome - SLC26A mutations

- L236P, 1001 +1G>A, T416P, E384G
Mitochondrial Mutations - T961C, T961G, G951A, 961 delT+C(n)Ins, G7444A, A7445G, A7445C.

Eligibility

Ages Eligible for Study:	up to 14 Days
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes
Sampling Method:	Non-Probability Sample

Study Population

Hospital

Criteria

Inclusion Criteria:

Documentation of informed consent
Inborn
Ability to do ABR (auditory brainstem response screen technology) screening test on all participants
Age at enrollment less than 14 days or less than or equal to 336 hours (Birth date is day 0)
Gestational age > = 34 0/7 weeks and above. (Late preterm infants and term infants)
No major anomalies
Ability to obtain blood sample prior to administration of any blood product transfusion
Subjects' parents or legal guardian willing to provide follow-up data on their child. They will need to provide a telephone contact number and address for follow-up procedures

Exclusion Criteria:

Older than 14 days of age or 336 hours
Receipt of a blood product prior to the ability to obtain blood sample for genetic testing (SoundGene panel)
Any major congenital anomalies. (chromosomal abnormalities, cyanotic congenital heart disease, gastroschisis, omphalocele, diaphragmatic hernia, or other major gastrointestinal anomalies, major neurological injury or anomaly, and multiple congenital anomalies)

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00511381

Contacts

Contact: Amy S Kelleher, BS, MSHS

800.243.3839 ext 5026

amy_kelleher@pediatrix.com

Locations

United States, Kansas
Stormont-Vail HealthCare	Recruiting
Topeka, Kansas, United States, 66604
Principal Investigator: Maria Bautista-Navarro, MD
United States, Ohio
Miami Valley Hospital	Recruiting
Dayton, Ohio, United States, 45409
Principal Investigator: Marc Belcastro, DO
United States, Oklahoma
Integris Baptist Medical Center	Not yet recruiting
Oklahoma City, Oklahoma, United States, 73112
Principal Investigator: Edward Co, MD

Sponsors and Collaborators

Pediatrix Medical Group

Investigators

Principal Investigator:	Gail Lim, ARNP	Pediatrix Medical Group
Study Chair:	Zhili Lin, MD, PhD	Pediatrix Screening
Study Chair:	Reese H Clark, MD	Pediatrix Medical Group

More Information

Responsible Party:	Pediatrix Medical Group ( Reese Clark, MD, Director of Research )
Study ID Numbers:	PDX-001-07
Study First Received:	August 2, 2007
Last Updated:	May 19, 2008
ClinicalTrials.gov Identifier:	NCT00511381
Health Authority:	United States: Institutional Review Board

Keywords provided by Pediatrix Medical Group:

Hearing Loss
Late-Onset Hearing Loss
Deafness

Study placed in the following topic categories:

Signs and Symptoms
Sensation Disorders
Hearing Disorders
Deafness
Otorhinolaryngologic Diseases

Retrocochlear Diseases
Neurologic Manifestations
Hearing Loss
Ear Diseases

Additional relevant MeSH terms:

Nervous System Diseases

ClinicalTrials.gov processed this record on January 16, 2009