Clinical trial
Genetic Diagnosis and Phenotype-genotype Correlation in a Large Chinese Cohort of Congenital Cataracts
Name
2020KYPJ004
Description
The prediction of genetic risk in congenital cataract patients has great clinical significance. In this trial, the investigators aim to screen the causative variants from 115 unrelated bilateral congenital cataract patients enrolled consecutively, describe novel and recurrent variants, analyze the factors affecting genetic diagnostic yield, and explore potential phenotype-genotype correlation.
Trial arms
Trial start
2021-01-01
Estimated PCD
2022-12-31
Trial end
2022-12-31
Status
Completed
Treatment
Ophthalmic examination
Facial photographs of the participants were obtained at the time of enrolment. Pre- and post-operative anterior eye segment photographs were obtained under diffuse, direct focal and retro illumination. Clinical data, including basic information, family history, and comprehensive pre- and post-operative ophthalmic examination findings, were recorded.
Arms:
Bilateral congenital cataract probands who were consecutively enrolled
Whole-exome sequencing
Performing whole-exome sequencing and bioinformatics analysis.
Arms:
Bilateral congenital cataract probands who were consecutively enrolled
Size
115
Primary endpoint
Whether the participant has pathogenic genes
2 years
Type of the cataracts
before surgery
Eligibility criteria
Inclusion Criteria:
1. The participant with bilateral congenital cataract;
2. Have signed a consent form. .
Exclusion Criteria:
1. The participant not identified with congenital cataract; 2. The participant with unilateral congenital cataract.
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Protocol
{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'CASE_ONLY', 'timePerspective': 'PROSPECTIVE'}, 'enrollmentInfo': {'count': 115, 'type': 'ACTUAL'}}
Updated at
2023-03-23
1 organization
1 product
1 indication
Product
Whole-exome sequencingIndication
Cataract