Congenital Aniridia Patient Questionnaire

NCT ID: NCT05390801

Last Updated: 2025-09-15

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 100 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-06-08
• Study Completion Date: 2026-06-08

Brief 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.

Detailed Description

Congenital aniridia is a pan-ocular genetic characterized by 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 :

• Partial or complete absence of iris, iris abnormalities
• Glaucoma
• Cataract
• Corneal opacifications with neovascularization
• Foveal hypoplasia with nystagmus
• Hypoplasia of the optic nerve The signs of the disease vary from one individual to another, even within the same family. Iris abnormalities and foveolar hypoplasia are the most constant signs. Affected patients have a highly compromised visual prognosis in adulthood, and are very often considered visually impaired with criteria for legal blindness.

Congenital aniridia can also be associated with several severe systemic manifestations, including syndromic aniridia (WAGR syndrome and Gillespie syndrome).

The major gene responsible for autosomal dominant forms of congenital aniridia is PAIRED BOX GENE 6 (PAX6) (MIM#607108) with over 500 pathogenic variants reported to date.

Congenital aniridia is therefore a rare, pan-ocular disease associating 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

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: PROSPECTIVE

Study Groups

Patients

Any patient ≥ 18 years old with congenital aniridia, able to respond independently to a questionnaire and patients under 18 years old with congenital aniridia, whose parents can respond for their child.

Survey

Intervention Type: OTHER

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.

Interventions

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.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Any patient ≥ 18 years old with congenital aniridia and able to respond independently to the study survey,
• or patients under 18 years old with congenital aniridia, whose parents can answer the study survey,
• adult patients or holders of parental authority and minor patients informed and not opposed to participation in the study.

Exclusion Criteria

• Patients with neurological disorders preventing them from answering the survey, except in the case of minor patients, if the parents can answer for the patient.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

URC-CIC Paris Descartes Necker Cochin

OTHER

Sponsor Role: collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Alejandra Daruich, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Dominique Bremond-Gignac, MD, PhD

Role: STUDY_DIRECTOR

Assistance Publique - Hôpitaux de Paris

Locations

Hôpital Necker-Enfants Malades

Paris, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Alejandra Daruich, MD, PhD

Role: CONTACT

alejandra.daruich-matet@aphp.fr

1 44 38 19 69 ext. +33

Hélène Morel

Role: CONTACT

helene.morel@aphp.fr

1 71 19 63 46 ext. +33

Facility Contacts

Alejandra Daruich, MD, PhD

Role: primary

alejandra.daruich-matet@aphp.fr

1 44 38 19 69

Other Identifiers

2021-A02363-38

Identifier Type: OTHER

Identifier Source: secondary_id

APHP220119

Identifier Type: -

Identifier Source: org_study_id