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Sponsored by: |
Pediatrix Medical Group |
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Information provided by: | Pediatrix Medical Group |
ClinicalTrials.gov Identifier: | NCT00511381 |
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 |
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Hearing Loss Late-Onset Hearing Loss Deafness |
Genetic: No intervention |
Study Type: | Observational |
Study Design: | Prospective |
Official Title: | Utility of Genetic Testing in Detection of Late-Onset Hearing Loss |
Estimated Enrollment: | 6000 |
Study Start Date: | October 2007 |
Estimated Study Completion Date: | December 2010 |
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:
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
Ages Eligible for Study: | up to 14 Days |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
Hospital
Inclusion Criteria:
Exclusion Criteria:
Contact: Amy S Kelleher, BS, MSHS | 800.243.3839 ext 5026 | amy_kelleher@pediatrix.com |
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 |
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 |
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 |
Hearing Loss Late-Onset Hearing Loss Deafness |
Signs and Symptoms Sensation Disorders Hearing Disorders Deafness Otorhinolaryngologic Diseases |
Retrocochlear Diseases Neurologic Manifestations Hearing Loss Ear Diseases |
Nervous System Diseases |