NCT05782452

Brief Summary

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 Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
115

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Jan 2021

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2021

Completed
2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2022

Completed
2 months until next milestone

First Submitted

Initial submission to the registry

March 12, 2023

Completed
11 days until next milestone

First Posted

Study publicly available on registry

March 23, 2023

Completed
Last Updated

March 23, 2023

Status Verified

March 1, 2023

Enrollment Period

2 years

First QC Date

March 12, 2023

Last Update Submit

March 12, 2023

Conditions

Congenital Cataract

Keywords

Congenital cataractGenetic diagnosisPhenotype-genotype correlation

Outcome Measures

Primary Outcomes (2)

  • Whether the participant has pathogenic genes

    2 years

  • Type of the cataracts

    The cataracts were categorized into 17 groups (Membranous cataract, Thin and fibrotic nuclear cataract, Nuclear cataract, Zonular cataract, Pulverulent cataract, Pocket-like cataract, "Ant egg" cataract, Cerulean cataract, Coronary cataract, Coralliform cataract, Cortical cataract, Sutural cataract, Anterior subcapsular cataract, Anterior polar cataract, Posterior subcapsular cataract, Posterior polar cataract, Total cataract)

    before surgery

Secondary Outcomes (2)

  • Whether the participant has family history

    2 years

  • The symmetricity of the type of cataract

    before surgery

Study Arms (1)

Bilateral congenital cataract probands who were consecutively enrolled

Procedure: Ophthalmic examinationGenetic: Whole-exome sequencing

Interventions

Ophthalmic examinationPROCEDURE

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.

Bilateral congenital cataract probands who were consecutively enrolled
Whole-exome sequencingGENETIC

Performing whole-exome sequencing and bioinformatics analysis.

Bilateral congenital cataract probands who were consecutively enrolled

Eligibility Criteria

Age0 Years - 18 Years
Sexall
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

This prospective study was a part of an ongoing series at the Childhood Cataract Program of the Chinese Ministry of Health (CCPMOH), China. The cohort consisted of 115 bilateral congenital cataract probands who were consecutively enrolled.

You may qualify if:

  • The participant with bilateral congenital cataract;
  • Have signed a consent form. .

You may not qualify if:

  • \. The participant not identified with congenital cataract; 2. The participant with unilateral congenital cataract.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Zhongshan Ophthalmic Center, Sun Yat-sen University

Guangzhou, Guangdong, 510080, China

Location

Related Publications (11)

  • Shiels A, Hejtmancik JF. Biology of Inherited Cataracts and Opportunities for Treatment. Annu Rev Vis Sci. 2019 Sep 15;5:123-149. doi: 10.1146/annurev-vision-091517-034346.

    PMID: 31525139RESULT

  • Haargaard B, Wohlfahrt J, Fledelius HC, Rosenberg T, Melbye M. Incidence and cumulative risk of childhood cataract in a cohort of 2.6 million Danish children. Invest Ophthalmol Vis Sci. 2004 May;45(5):1316-20. doi: 10.1167/iovs.03-0635.

    PMID: 15111583RESULT

  • Gillespie RL, O'Sullivan J, Ashworth J, Bhaskar S, Williams S, Biswas S, Kehdi E, Ramsden SC, Clayton-Smith J, Black GC, Lloyd IC. Personalized diagnosis and management of congenital cataract by next-generation sequencing. Ophthalmology. 2014 Nov;121(11):2124-37.e1-2. doi: 10.1016/j.ophtha.2014.06.006. Epub 2014 Aug 19.

    PMID: 25148791RESULT

  • Feinmann J. The BMJ Christmas appeal 2016-17: changing children's lives through cataract surgery. BMJ. 2016 Dec 15;355:i6650. doi: 10.1136/bmj.i6650. No abstract available.

    PMID: 27979852RESULT

  • Scott MH, Hejtmancik JF, Wozencraft LA, Reuter LM, Parks MM, Kaiser-Kupfer MI. Autosomal dominant congenital cataract. Interocular phenotypic variability. Ophthalmology. 1994 May;101(5):866-71. doi: 10.1016/s0161-6420(94)31246-2.

    PMID: 8190472RESULT

  • Aldahmesh MA, Khan AO, Mohamed JY, Hijazi H, Al-Owain M, Alswaid A, Alkuraya FS. Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes. Genet Med. 2012 Dec;14(12):955-62. doi: 10.1038/gim.2012.86. Epub 2012 Aug 30.

    PMID: 22935719RESULT

  • Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet. 2004 Apr;36(4):411-6. doi: 10.1038/ng1321. Epub 2004 Mar 7.

    PMID: 15004558RESULT

  • Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF. Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet. 2011 Jun 10;88(6):827-838. doi: 10.1016/j.ajhg.2011.05.008.

    PMID: 21636066RESULT

  • Musleh M, Hall G, Lloyd IC, Gillespie RL, Waller S, Douzgou S, Clayton-Smith J, Kehdi E, Black GC, Ashworth J. Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach. Eye (Lond). 2016 Sep;30(9):1175-81. doi: 10.1038/eye.2016.105. Epub 2016 Jun 17.

    PMID: 27315345RESULT

  • Rechsteiner D, Issler L, Koller S, Lang E, Bahr L, Feil S, Ruegger CM, Kottke R, Toelle SP, Zweifel N, Steindl K, Joset P, Zweier M, Suter AA, Gogoll L, Haas C, Berger W, Gerth-Kahlert C. Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract. JAMA Ophthalmol. 2021 Jul 1;139(7):691-700. doi: 10.1001/jamaophthalmol.2021.0385.

    PMID: 34014271RESULT

  • Kandaswamy DK, Prakash MVS, Graw J, Koller S, Magyar I, Tiwari A, Berger W, Santhiya ST. Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India. Int J Mol Sci. 2020 Dec 16;21(24):9569. doi: 10.3390/ijms21249569.

    PMID: 33339270RESULT

MeSH Terms

Interventions

Exome

Intervention Hierarchy (Ancestors)

GenomeGenetic StructuresGenetic Phenomena

Study Officials

  • Weirong Chen, PhD

    Zhongshan Ophthalmic Center, Sun Yat-sen University

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Prof.

Study Record Dates

First Submitted

March 12, 2023

First Posted

March 23, 2023

Study Start

January 1, 2021

Primary Completion

December 31, 2022

Study Completion

December 31, 2022

Last Updated

March 23, 2023

Record last verified: 2023-03

Locations

CN(1)