Genetic Testing in Detection of Late-Onset Hearing Loss (SoundGene)

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Pediatrix Medical Group
ClinicalTrials.gov Identifier:
NCT00511381
First received: August 2, 2007
Last updated: February 28, 2012
Last verified: February 2012
  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

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

Resource links provided by NLM:


Further study details as provided by Pediatrix Medical Group:

Enrollment: 3681
Study Start Date: October 2007
Study Completion Date: September 2011
Primary Completion Date: September 2009 (Final data collection date for primary outcome measure)
Intervention Details:
    Genetic: No intervention
    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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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

Locations
United States, Kansas
Stormont-Vail HealthCare
Topeka, Kansas, United States, 66604
United States, Ohio
Miami Valley Hospital
Dayton, Ohio, United States, 45409
United States, Oklahoma
Integris Baptist Medical Center
Oklahoma City, Oklahoma, United States, 73112
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

No publications provided

Responsible Party: Pediatrix Medical Group
ClinicalTrials.gov Identifier: NCT00511381     History of Changes
Other Study ID Numbers: PDX-001-07
Study First Received: August 2, 2007
Last Updated: February 28, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Pediatrix Medical Group:
Hearing Loss
Late-Onset Hearing Loss
Deafness

Additional relevant MeSH terms:
Deafness
Hearing Loss
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms

ClinicalTrials.gov processed this record on July 28, 2014