Multicenter study on the genetic screening and diagnosis of deafness in China

Not Applicable

• Conditions: Genetic deafness; Genetic Diseases

• Registration Number: ISRCTN10768387
• Lead Sponsor: Chinese PLA General Hospital

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2020-06-16
• Last Update Posted: 29 June 2020
• Study Completion: 2022-08-31

Recruitment & Eligibility

• Status: Ongoing
• Sex: All
• Target Recruitment: 10000

Inclusion Criteria

1. Congenital hearing loss or late-onset hearing loss and their families
2. Patients with congenital malformation of auditory organ and their families
3. Acquired sensorineural hearing loss patients and their families
4. Hearing normal individuals with a family history of deafness

Exclusion Criteria

1. The patients and their families who refused to participate in the program after receiving the education by doctors
2. The patients with deafness caused by non-genetic factors were definitely diagnosed

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<br> 1. Number of cases in the database of genetic deafness patients in China at 5 years<br> 2. Gene map of genetic deafness patients in China measured using the coverage of pathogenic variant on genetic deafness in the public database at 5 years<br>

Secondary Outcome Measures

Name	Time	Method
<br> 1. Genetic deafness panel measured using coverage and accuracy of pathogenic variant on genetic deafness in the public database at 5 years<br> 2. Guidelines of screening and diagnosis for genetic deafness patients in China measured using the published journal articles at 5 years<br>