Clinical trial NCT06133946: Cohort Of DEafness-gene Screening
Official title: Cohort of Universal Newborn Deafness-gene Screening in Nantong City, China
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Hearing Loss
Keywords: Newborn hearing screening
Genetic screening
Cohort study
Lead sponsor: Affiliated Hospital of Nantong University
Sponsor class: OTHER
Collaborators: name: Nantong Maternal and Child Health Care Hospital
First posted: 2023-11-18
Enrollment: 35920
Sex: ALL
Minimum age (years): 3
Maximum age (years): 1
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants were newborn infants born between January 2016 and December 2020 from the Han population in Nantong city, China.

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.

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.

Primary outcomes:
measure: Diagnosis of hearing loss at age of 3 months
timeFrame: From Jan 1, 2016 to Mar 31, 2021
Secondary outcomes:
measure: Language ability of HL children at ages of 5 years and 8 years
timeFrame: From Jan 1, 2021 to Dec 31, 2028
measure: Receptive vocabulary of HL children at ages of 5 years and 8 years
timeFrame: From Jan 1, 2021 to Dec 31, 2028
measure: Non-verbal IQ of HL children at ages of 5 years and 8 years
timeFrame: From Jan 1, 2021 to Dec 31, 2028
Other outcomes:
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