Genetic Feature of Congenital Hearing Loss in Chinese Population

NCT06365749 | Not Yet Recruiting

• 1 other identifier: TJ-IRB20221228
• Study Type: observational
• Target: 50
• Locations: 0 countries
• Sites: N/A

Brief 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. 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

Outcome Measures

Primary Outcomes (1)

• 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.

  Baseline

Secondary Outcomes (4)

• TEOAE-based otoacoustic emissions test outcome measure

  Baseline

• Auditory brainstem response testing

  Baseline

• Acoustic impedance

  Baseline

• Audiogram

  4 years follow up

Study Arms (1)

Neonate with hearing loss

Neonates who failed in the neonatal hearing screening programs, including oto-acoustic emissions and automated auditory brain stem response.

Eligibility Criteria

• Age: Up to 6 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Neonates who were offered neonatal hearing screening programs at Tongji hospital.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Dan Bing: lead

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample with DNA will be collected from heel prick or cord blood

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: associate professor

Study Record Dates

• First Submitted: November 21, 2023
• First Posted: April 15, 2024
• Study Start: April 23, 2024
• Primary Completion (Estimated): November 23, 2026
• Study Completion (Estimated): November 23, 2026
• Last Updated: April 15, 2024

Record last verified: 2024-04