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NCT Number: NCT06133946

Cohort Of DEafness-gene Screening

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Hearing Loss Ear Diseases Hearing Disorders Nervous System Diseases Neurologic Manifestations Otorhinolaryngologic Diseases Pathological Conditions, Signs and Symptoms Sensation Disorders Signs and Symptoms

Age range

3 day–1 week

Sex eligibility

All sexes

Study type

Observational

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • The infants were born between January 2016 and December 2020;
  • The infants' health condition was good enough to tolerate the screening procedures;
  • The parents were urban residents of Nantong city;
  • The parents agreed to have their babies participating in the combined hearing and genetic screening program.

Exclusion criteria

  • 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;
  • The infants were lost to follow-up.

Treatment and study plan

Genetic screening test (Deafness gene variant detection array kit)

Genetic

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

Other 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])

Primary outcomes

  1. Diagnosis of hearing loss at age of 3 months

    Time frame: From Jan 1, 2016 to Mar 31, 2021

    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.

Secondary outcomes

  1. Language ability of HL children at ages of 5 years and 8 years

    Time frame: From Jan 1, 2021 to Dec 31, 2028

    Mandarin sentence repetition task (MSRT) was used to reflect the children's language ability.

  2. Receptive vocabulary of HL children at ages of 5 years and 8 years

    Time frame: From Jan 1, 2021 to Dec 31, 2028

    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.

  3. Non-verbal IQ of HL children at ages of 5 years and 8 years

    Time frame: From Jan 1, 2021 to Dec 31, 2028

    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.

Sponsors and collaborators

Lead sponsor

Affiliated Hospital of Nantong University

Other

Collaborators

  • Nantong Maternal and Child Health Care Hospital

Registry information

Official study title

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

Acronym: CODES

Important dates

Study start
2016
Primary completion
2021
Study completion
2028
First posted
Nov 18, 2023
Registry last updated
Nov 18, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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