Cohort Of DEafness-gene Screening

NCT ID: NCT06133946

Last Updated: 2023-11-18

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Total Enrollment: 35920 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-01-01
• Study Completion Date: 2028-12-31

Brief Summary

This study was based on a concurrent newborn genetic and hearing screening program in Nantong city. From January 2016 to December 2020, newborn infants were recruited and received combined screening for free, funded in part by the municipal government and research project foundations. The population-based longitudinal databank for all children with hearing loss in Nantong city commenced in January 2016 and maintained indefinite recruitment and ongoing follow-up.

Detailed Description

The severity of hearing loss was graded as mild (26-40 dB), moderate (41-60 dB), severe (61-80 dB), and profound (≥81 dB).

Genomic DNA was extracted by a blood filter paper nucleic acid extraction kit (CapitalBio, Beijing, China) and tested using a deafness gene variant detection array kit (CapitalBio, Beijing, China) with LuxScan 10K-B Microarray Scanner (CapitalBio, Beijing, China). The genetic screening entailed genotyping 15 variants in 4 genes: c.35delG, c.176_191del16, c.235delC, c.299_300delAT (GJB2 gene); c.1174A>T, c.1226G>A, c.1229C>T, c.1975G>C, c.2027T>A, c.2168A>G, c.IVS7-2A>G, c.IVS15 + 5G>A (SLC26A4 gene); m.1494C>T, m.1555A>G (MT-RNR1 gene); c.538C>T (GJB3 gene). The results were categorized as (1) negative, (2) carrier (GJB2 or SLC26A4, heterozygous mutations; MT-RNR1 mutations; GJB3 mutations; or heterozygous mutations in multiple genes), and (3) refer (GJB2 or SLC26A4, homozygous or compound heterozygous mutations).

This study was approved by the ethics committees of Nantong municipal Health Commission and all hospitals involved. Written informed consent was obtained from the infant's parents.

This study followed the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) reporting guideline for cohort studies.

Conditions

Hearing Loss

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Combined screening

All newborns underwent combined hearing and genetic screening.

Genetic screening test (Deafness gene variant detection array kit)

Intervention Type: GENETIC

Infant participants were screened for fifteen variants in four genes (i.e., GJB2, SLC26A4, MT-RNR1 and GJB3).

Interventions

Genetic screening test (Deafness gene variant detection array kit)

Infant participants were screened for fifteen variants in four genes (i.e., GJB2, SLC26A4, MT-RNR1 and GJB3).

Intervention Type: GENETIC

Other Intervention Names

Newborn hearing screening test (otoacoustic emission, OAE); Hearing re-screening test (OAE and automated auditory brainstem response [AABR]）; Hearing diagnostic test (auditory brainstem response [ABR] and auditory steady state response [ASSR])

Eligibility Criteria

Inclusion Criteria

1. The infants were born between January 2016 and December 2020;

2. The infants' health condition was good enough to tolerate the screening procedures;

3. The parents were urban residents of Nantong city;

4. The parents agreed to have their babies participating in the combined hearing and genetic screening program.

Exclusion Criteria

1. The infants' blood samples were unqualified for the genetic tests according to criteria of the National Health Commission of China's technical specification for neonatal screening of congenital diseases;

2. The infants were lost to follow-up.

• Minimum Eligible Age: 3 Days
• Maximum Eligible Age: 1 Week
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Nantong Maternal and Child Health Care Hospital

UNKNOWN

Sponsor Role: collaborator

Affiliated Hospital of Nantong University

OTHER

Sponsor Role: lead

Responsible Party

Gang Qin, MD, PhD

Associate Professor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Other Identifiers

BE2015655

Identifier Type: -

Identifier Source: org_study_id