Cohort Of DEafness-gene Screening

Hearing Loss Clinical Trial

— CODES  

Official title:

Cohort of Universal Newborn Deafness-gene Screening in Nantong City, China

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT06133946
• Other study ID #: BE2015655
• Status: Active, not recruiting
• Start date: January 1, 2016
• Est. completion date: December 31, 2028

Study information

• Verified date: November 2023
• Source: Affiliated Hospital of Nantong University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 35920
• Est. completion date: December 31, 2028
• Est. primary completion date: March 31, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 3 Days to 1 Week

Eligibility

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.

Related Conditions & MeSH terms

• Deafness
• Hearing Loss

Intervention

Genetic:
• 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).

Locations

Country	Name	City	State
n/a

Sponsors (2)

Lead Sponsor	Collaborator
Affiliated Hospital of Nantong University	Nantong Maternal and Child Health Care Hospital

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Diagnosis of hearing loss at age of 3 months	Diagnosis of HL was confirmed by hearing diagnostic tests (ABR+ASSR) at age of 3 months.; Auditory steady-state response (ASSR) were used as an alternative and adjunct to the auditory brainstem response (ABR) for threshold estimation.	From Jan 1, 2016 to Mar 31, 2021
Secondary	Language ability of HL children at ages of 5 years and 8 years	Mandarin sentence repetition task (MSRT) was used to reflect the children's language ability.	From Jan 1, 2021 to Dec 31, 2028
Secondary	Receptive vocabulary of HL children at ages of 5 years and 8 years	The Chinese version of the Peabody Picture Vocabulary Test-Revised (C-PPVT-R, Lu & Liu, 1998) was used to evaluate children's expressive vocabulary ability. The possible score ranged from 0-125, and test-retest reliability was exceeded 0.9.	From Jan 1, 2021 to Dec 31, 2028
Secondary	Non-verbal IQ of HL children at ages of 5 years and 8 years	The Chinese version of the Test of Nonverbal Intelligence, fourth edition (C-TONI-4, Lin et al., 2016) was used to evaluate children's nonverbal intelligence regarding problem solving and abstract reasoning. The possible score ranged from 0 to 48, and internal consistency reliability was 0.87.	From Jan 1, 2021 to Dec 31, 2028