Actively Recruiting

All Genders
NCT05954403

National Cohort on Congenital Defects of the Eye

Led by Institut National de la Santé Et de la Recherche Médicale, France · Updated on 2026-02-12

800

Participants Needed

1

Research Sites

1042 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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

Official Title

National Cohort on Congenital Defects of the Eye

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Newborns and children from birth to 7 years old with anophthalmia, microphthalmia, aniridia, or anterior segment dysgenesis whose parents have given informed consent
  • Patients affiliated with the French National Health Insurance or foreign patients agreeing to pay medical fees through French centers
  • Adults with anophthalmia, microphthalmia, aniridia, or anterior segment dysgenesis
  • Adults under guardianship with informed consent from guardians
  • Adults able to provide informed consent
  • Adult parents of affected children willing to participate in genetic inheritance studies
  • Pregnant women can be included
Not Eligible

You will not qualify if you...

History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety

AI-Screening

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Trial Site Locations

Total: 1 location

1

RaDiCo-ACOEIL

Paris, Île-de-France Region, France, 75012

Actively Recruiting

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Research Team

N

Nicolas NC CHASSAING, Dr

CONTACT

P

Patrick CALVAS, Pr

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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National Cohort on Congenital Defects of the Eye | DecenTrialz