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National Cohort on Congenital Defects of the Eye

NCT05954403 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 800

Last updated 2026-02-12

No results posted yet for this study

Summary

Congenital malformations of the eye comprise various developmental defects including microphthalmia, anophthalmia, aniridia, and anterior segment anomalies (such as Peters and Axenfeld-Rieger anomalies). These malformations are frequently associated with extra-ocular features and intellectual disability. However, little is known about visual outcome, frequency and consequences of extra-ocular features in patients.

The originality of the project will be to include a spectrum of malformation thought to be a phenotypic continuum (anophthalmia, microphthalmia, aniridia, anterior segment dysgnesis). In addition, we aim to conduct a 10 year follow-up of these children, thus allowing determining ocular and neurological outcomes as any other medical event. We should also be able to determine phenotypic factors that would be associated with good or poor visual and neurologic outcomes

Conditions

  • Anophthalmia
  • Microphthalmia
  • Aniridia
  • Anterior Segment Dysgenesis 6, Peters Anomaly Subtype
  • Anterior Segment Dysgenesis 3, Rieger Subtype

Sponsors & Collaborators

  • Institut National de la Santé Et de la Recherche Médicale, France

    lead OTHER_GOV

Principal Investigators

  • Nicolas NC CHASSAING, Dr · Centre de référence des maladies ophtalmologiques rares

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-07-11
Primary Completion
2037-07-31
Completion
2037-07-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05954403 on ClinicalTrials.gov