Congenital Hearing LossNCT06365749
Genetic Feature of Congenital Hearing Loss in Chinese Population
An observational study of Congenital Hearing Loss and Congenital Deafness, run by Dan Bing.
Trial summary
Congenital hearing loss, as well as hearing loss present at birth, is one of the most common chronic conditions in children, with a prevalence of permanent bilateral hearing loss of 2.83 per 1000 children of primary school age, which is mainly caused by genetic factors. Read more about this study
- Who is it for?
- Ages Up to 6 months
- Conditions the study is for
- Congenital Hearing Loss, Congenital Deafness
- How many people
- 50 participants
- Where
- No sites listed yet
- Study dates
- 23 Apr 2024to 23 Nov 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 6 months
- All sexes
- No healthy volunteers
- Child
Study population: Neonates who were offered neonatal hearing screening programs at Tongji hospital.
Who may be able to join
- Age up to 6 months
- Fail in the neonatal hearing screening programs, including oto-acoustic emissions and automated auditory brain stem response
- Promise to complete the tests required at baseline and follow-ups by the legal representative
- Informed consent by the legal representative
Who cannot join
- Congenital infections related to acquired or congenital hearing loss, including rubella virus, cytomegalovirus, herpes simplex virus, rubella virus, toxoplasma gondii and treponema pallidum infections
- Other explicit otologic conditions which could induce hearing loss, including cerumen, otitis media, congenital middle ear abnormalities, microtia and external ear abnormalities
- A drug with ototoxicity usage during pregnancy
- Other severe congenital anomalies
About this study
Official title: Exome Sequencing Explored the Genetic Characteristics Congenital Hearing Loss in Chinese Population
Congenital hearing loss, as well as hearing loss present at birth, is one of the most common chronic conditions in children, with a prevalence of permanent bilateral hearing loss of 2.83 per 1000 children of primary school age, which is mainly caused by genetic factors. The goal of this observational study is to learn about novel causative genes in infants with hearing loss in the Chinese population. The main problem it aims to deal with are:
- to present the genetic characteristics of the infant with hearing loss in the Chinese population
- to build up a prognostic model base on diverse data.
Participants will be asked to receive audiological tests and collection of the peripheral blood sample.
- Conditions
- Congenital Hearing Loss, Congenital Deafness
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Neonate with hearing loss | Neonates who failed in the neonatal hearing screening programs, including oto-acoustic emissions and automated auditory brain stem response. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Whole exome sequencing data
DNA of neonate extracted from blood sample by heel prick or collection of cord blood will be perform whole exome sequencing to present genetic features. By sequencing all protein-coding regions, WES uncovers mutations that can inform diagnostic, therapeutic, and preventive strategies. Key outcome measures from WES include the detection of single nucleotide polymorphisms, insertions, deletions, and structural variants. These outcomes are critical for diagnosing genetic disorders, personalizing treatments, and assessing disease risk. The analysis involves aligning reads to a reference genome, calling variants, and interpreting their clinical significance. WES data thus serves as a cornerstone in genetic research and personalized medicine, enabling a deeper understanding of the genetic underpinnings of diseases and tailoring healthcare approaches to individual genetic profiles.
Measured: Baseline
Secondary outcomes (4)
TEOAE-based otoacoustic emissions test outcome measure
In analyzing Transient Evoked Otoacoustic Emissions (TEOAE), key factors include response reproducibility, which indicates consistent cochlear responses, and signal-to-noise ratio (SNR), where a value above 3 dB suggests clear cochlear emissions against background noise. The Response Spectrum provides a frequency-specific look at cochlear performance, essential for identifying potential hearing issues. A 'Pass' in the TEOAE test denotes normal cochlear function, while a 'Refer' indicates the need for further hearing evaluations.
Measured: Baseline
Auditory brainstem response testing
In auditory brainstem response (ABR) testing, waveform reproducibility and waveform latency, especially of Wave V, are key. High reproducibility indicates reliable signal transmission, suggesting a healthy auditory system. Appropriate latency for Wave V indicates efficient signal processing. Frequency-Specific Responses highlight the brainstem's reaction across different sound frequencies, aiding in identifying potential issues. 'Normal' ABR results reflect functional auditory pathways, while 'Abnormal' ones prompt further investigation.
Measured: Baseline
Acoustic impedance
Acoustic impedance, a critical parameter in sound wave dynamics, quantifies a medium's opposition to sound propagation, expressed as the ratio of acoustic pressure to particle velocity. This parameter is shaped by the medium's density and the speed of sound through it, pivotal for understanding sound behavior in various environments. In audiology, specifically in tympanometry, impedance measurements diagnose middle ear conditions by assessing how sound waves are absorbed or reflected, revealing conditions like effusion or tympanic membrane perforations. The results are typically classified into Jerger types, which categorize middle ear function based on the impedance curve's shape and peak characteristics, providing a detailed insight into middle ear health. High impedance may indicate obstructions or stiffness in the middle ear, while low impedance could suggest perforations or discontinuities.
Measured: Baseline
Audiogram
Pure-tone threshold testing is a cornerstone of audiological assessment, used to determine the softest level at which an individual can hear sounds of specific frequencies. During the test, pure tones of various frequencies are presented through headphones or earphones to one ear at a time, or through a speaker for bone conduction testing. The process begins at an audible level, gradually decreasing until the sound is no longer heard, then slightly increasing until it is heard again. This method helps identify the threshold, or the lowest level at which a sound is perceived 50% of the time for each frequency tested, typically ranging from low (250 Hz) to high (8000 Hz) frequencies.
Measured: 4 years follow up
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Apr 2024
- Study start23 Apr 2024 (estimated)
- Primary completion23 Nov 2026 (estimated)
- Study completion23 Nov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital 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
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Dan Bing
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Dan Bing, Tongji Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06365749
- Sponsor's protocol ID
- TJ-IRB20221228
- Status last verified
- Apr 2024
- First submitted
- 21 Nov 2023
- Last updated
- 15 Apr 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exome Sequencing Explored the Genetic Characteristics Congenital Hearing Loss in Chinese Population
- ClinicalTrials.gov ID
- NCT06365749
- Acronym / sponsor ID
- TJ-IRB20221228
- Conditions
- Congenital Hearing Loss, Congenital Deafness
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Dan BingUniversity, hospital or other
- Study start
- 23 Apr 2024 (estimated)
- Primary completion
- 23 Nov 2026 (estimated)
- Study completion
- 23 Nov 2026 (estimated)
- First posted
- 15 Apr 2024 (actual)
- 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.
Congenital hearing loss, as well as hearing loss present at birth, is one of the most common chronic conditions in children, with a prevalence of permanent bilateral hearing loss of 2.83 per 1000 children of primary school age, which is mainly caused by genetic factors. The goal of this observational study is to learn about novel causative genes in infants with hearing loss in the Chinese population. The main problem it aims to deal with are:
- to present the genetic characteristics of the infant with hearing loss in the Chinese population
- to build up a prognostic model base on diverse data.
Participants will be asked to receive audiological tests and collection of the peripheral blood sample.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Neonate with hearing loss | – | –Neonates who failed in the neonatal hearing screening programs, including oto-acoustic emissions and automated auditory brain stem response. |
Who may qualify
- Ages
- Up to 6 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Neonates who were offered neonatal hearing screening programs at Tongji hospital.
Key inclusion criteria (4 listed)
- Age up to 6 months
- Fail in the neonatal hearing screening programs, including oto-acoustic emissions and automated auditory brain stem response
- Promise to complete the tests required at baseline and follow-ups by the legal representative
- Informed consent by the legal representative
Key exclusion criteria (4 listed)
- Congenital infections related to acquired or congenital hearing loss, including rubella virus, cytomegalovirus, herpes simplex virus, rubella virus, toxoplasma gondii and treponema pallidum infections
- Other explicit otologic conditions which could induce hearing loss, including cerumen, otitis media, congenital middle ear abnormalities, microtia and external ear abnormalities
- A drug with ototoxicity usage during pregnancy
- Other severe 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.
Primary outcome
Whole exome sequencing data
Time frame: Baseline
DNA of neonate extracted from blood sample by heel prick or collection of cord blood will be perform whole exome sequencing to present genetic features. By sequencing all protein-coding regions, WES uncovers mutations that can inform diagnostic, therapeutic, and preventive strategies. Key outcome measures from WES include the detection of single nucleotide polymorphisms, insertions, deletions, and structural variants. These outcomes are critical for diagnosing genetic disorders, personalizing treatments, and assessing disease risk. The analysis involves aligning reads to a reference genome, calling variants, and interpreting their clinical significance. WES data thus serves as a cornerstone in genetic research and personalized medicine, enabling a deeper understanding of the genetic underpinnings of diseases and tailoring healthcare approaches to individual genetic profiles.
4 secondary outcomes
TEOAE-based otoacoustic emissions test outcome measure
Time frame: Baseline
Auditory brainstem response testing
Time frame: Baseline
Acoustic impedance
Time frame: Baseline
Audiogram
Time frame: 4 years follow up
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Apr 2024.
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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.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Hearing Loss and Congenital Deafness, run by Dan Bing.
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 4 inclusion and 4 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: opening soon, as of the sponsor's last update on 15 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
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?
This study is still under way. Results are not available in the source record yet.
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.
What does the primary outcome measure?
Whole exome sequencing data (time frame: Baseline). It is what the study was designed to measure, not a finding.
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 15 Apr 2024; AzTrials last refreshed its copy on 8 Nov 2026.