Congenital Aniridia Patient Questionnaire (Aniridia-Quizz)

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.

Study Overview

• Status: Recruiting
• Conditions: Congenital Aniridia
• Intervention / Treatment: Other: Survey

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.

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Alejandra Daruich, MD, PhD; Phone Number: +33 1 44 38 19 69; Email: alejandra.daruich-matet@aphp.fr
• Study Contact Backup: Name: Hélène Morel; Phone Number: +33 1 71 19 63 46; Email: helene.morel@aphp.fr

Study Locations

• France
  • Paris, France, 75015
    • Recruiting
    • Hôpital Necker-Enfants Malades
    • Contact: Alejandra Daruich, MD, PhD; Phone Number: 1 44 38 19 69; Email: alejandra.daruich-matet@aphp.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients followed in Necker Enfants Malades hospital, the referral center in France for congenital aniridia.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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.	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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Ocular and systemic manifestations in congenital aniridia	To identify eye and systemic manifestations in congenital aniridia through a survey prepared by ophthalmologists. The answers of the survey will be compared with data from the patient's medical file.	24 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Patient's autonomy	Descriptive analysis of the patient's answers and data from the patient's medical file to determine the impact of the disease on patient's autonomy. Questions in the survey concerning patient's autonomy will be compared to the data collected in the medical file. For instance: help with activities of daily living, computer/phone use, lifestyle, outdoor and indoor travel, etc.	24 months
Patients knowledge	Descriptive analysis of the patient's answers and data from the patient's medical file to determine how well patients know their disease and potential complications. Questions in the survey concerning the etiology, complications and evolution of the disease will be compared with the data collected in the medical file in order to determine the degree of knowledge of the patients of the disease.	24 months
Factors influencing patient knowledge	To determine the influence of factors such as age, sex, origin and profession on patients' knowledge of their disease according to survey answers.	24 months
Parental knowledge	Descriptive analysis of the parents' answers and data from the patient's medical file to determine parents' knowledge of their child's disease and potential complications. For patients < 18 years old, the parents' answers of the questions in the survey concerning the etiology, complications and evolution of the disease will be compared with the data collected in the medical file.	24 months

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Collaborators: URC-CIC Paris Descartes Necker Cochin
• Investigators: Principal Investigator: Alejandra Daruich, MD, PhD, Assistance Publique - Hôpitaux de Paris; Study Director: Dominique Bremond-Gignac, MD, PhD, Assistance Publique - Hôpitaux de Paris

Study record dates

Study Major Dates

• Study Start (Actual): June 8, 2023
• Primary Completion (Estimated): December 8, 2027
• Study Completion (Estimated): December 8, 2027

Study Registration Dates

• First Submitted: May 20, 2022
• First Submitted That Met QC Criteria: May 20, 2022
• First Posted (Actual): May 25, 2022

Study Record Updates

• Last Update Posted (Actual): June 2, 2026
• Last Update Submitted That Met QC Criteria: May 29, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: Congenital aniridia; Patient survey; Patients knowledge
• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Eye Diseases; Eye Diseases, Hereditary; Congenital Abnormalities; Uveal Diseases; Eye Abnormalities; Iris Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Aniridia; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Data Collection; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Surveys and Questionnaires
• Other Study ID Numbers: APHP220119; 2021-A02363-38 (Other Identifier: ID-RCB Number)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No