Congenital Aniridia Patient Questionnaire

NCT05390801 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2025-09-15

No results posted yet for this study

Summary

Congenital aniridia is a pan-ocular genetic disease characterized by a partial or complete absence of the iris, hence its name. The prevalence ranges from 1 / 40,000 to 1 / 96,000 births, but it may be underestimated. This condition combines several types of eye damage and could associate systemic manifestations, with a variable phenotype and genotype.

This study aims to identify eye and systemic manifestations in congenital aniridia and to determine the patients' knowledge of their own disease through a survey prepared by ophthalmologists from the Ophthalmology Department of Necker-Enfants Malades Hospital, reference center in France for this pathology. The patient fills it out only once.

Conditions

  • Congenital Aniridia

Interventions

OTHER

Survey

Survey developed by ophthalmologists from the Ophthalmology Department of the Necker-Enfants Malades Hospital, fill out only once by patients with congenital aniridia in order to identify eye and systemic manifestations in congenital aniridia and to determine the patients' knowledge of their own disease.

Sponsors & Collaborators

  • URC-CIC Paris Descartes Necker Cochin

    collaborator OTHER
  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Alejandra Daruich, MD, PhD · Assistance Publique - Hôpitaux de Paris

  • Dominique Bremond-Gignac, MD, PhD · Assistance Publique - Hôpitaux de Paris

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-06-08
Primary Completion
2026-06-08
Completion
2026-06-08

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 NCT05390801 on ClinicalTrials.gov