Hearing LossSoundGeneNCT00511381
Genetic Testing in Detection of Late-Onset Hearing Loss
An observational study of Hearing Loss and Late-Onset Hearing Loss, run by Pediatrix at 3 sites in United States.
Trial 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 and/or follow-up. Read more about this study
- Who is it for?
- Ages Up to 14 daysHealthy volunteers can take part
- Conditions the study is for
- Hearing Loss, Late-Onset Hearing Loss, Deafness
- How many people
- 3,681 participants
- Where
- 3 sitesUnited States
- Study dates
- Oct 2007to Sep 2011
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 14 days
- All sexes
- Healthy volunteers accepted
- Child
Study population: Hospital
Who may be able to join
- 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
Who cannot join
- 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)
Trial locations and contacts
3 sites in 1 country.
United States3 sites
Miami Valley Hospital
Dayton, Ohio, 45409
Integris Baptist Medical Center
Oklahoma City, Oklahoma, 73112
Stormont-Vail HealthCare
Topeka, Kansas, 66604
About this study
Official title: Utility of Genetic Testing in Detection of Late-Onset Hearing Loss
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.
Read the 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.
- Conditions
- Hearing Loss, Late-Onset Hearing Loss, Deafness
- Being tested
- No intervention
- Keywords
- Hearing Loss, Late-Onset Hearing Loss, Deafness
- Medical subject headings
- Hearing Loss, Deafness
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionGenetic
No intervention
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Aug 2007 (estimated)
- Study startOct 2007
- Primary completionSep 2009
- Study completionSep 2011
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hearing LossStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Time perspective
- Prospective
- Enrolment
- 3,681 participants (actual)
Sponsor and investigators
- Lead sponsor
- Pediatrix
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Gail Lim, ARNP, Principal investigator, PediatrixZhili Lin, MD, PhD, Study chair, Pediatrix ScreeningReese H Clark, MD, Study chair, Pediatrix
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00511381
- Sponsor's protocol ID
- PDX-001-07
- Acronym
- SoundGene
- Status last verified
- Feb 2012
- First submitted
- 2 Aug 2007
- Last updated
- 1 Mar 2012
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 1 Mar 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Utility of Genetic Testing in Detection of Late-Onset Hearing Loss
- ClinicalTrials.gov ID
- NCT00511381
- Acronym / sponsor ID
- SoundGene / PDX-001-07
- Conditions
- Hearing Loss, Late-Onset Hearing Loss, Deafness
- Keywords
- Hearing Loss, Late-Onset Hearing Loss, Deafness
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 3,681 participants (actual)
- Lead sponsor
- PediatrixUniversity, hospital or other
- Study start
- Oct 2007
- Primary completion
- Sep 2009 (actual)
- Study completion
- Sep 2011 (actual)
- First posted
- 3 Aug 2007 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Time perspective
- Prospective
Who may qualify
- Ages
- Up to 14 days
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- Hospital
Key inclusion criteria (8 listed)
- 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)
Key exclusion criteria (3 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionNo intervention | Genetic | – |
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Mar 2012.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Gail Lim, ARNP principal investigator
Pediatrix
Zhili Lin, MD, PhD study chair
Pediatrix Screening
Reese H Clark, MD study chair
Pediatrix
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hearing Loss and Late-Onset Hearing Loss, run by Pediatrix at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 Mar 2012. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Mar 2012.