NCT05390801

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
100

participants targeted

Target at P50-P75 for all trials

Timeline
2mo left

Started Jun 2023

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress97%
Jun 2023Jun 2026

First Submitted

Initial submission to the registry

May 20, 2022

Completed
5 days until next milestone

First Posted

Study publicly available on registry

May 25, 2022

Completed
1 year until next milestone

Study Start

First participant enrolled

June 8, 2023

Completed
3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 8, 2026

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 8, 2026

Last Updated

September 15, 2025

Status Verified

September 1, 2025

Enrollment Period

3 years

First QC Date

May 20, 2022

Last Update Submit

September 8, 2025

Conditions

Congenital Aniridia

Keywords

Congenital aniridiaPatient surveyPatients knowledge

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (4)

  • Patient's autonomy

    24 months

  • Patients knowledge

    24 months

  • Factors influencing patient knowledge

    24 months

  • Parental knowledge

    24 months

Study Arms (1)

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

Interventions

SurveyOTHER

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.

Patients

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • 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.

You may not qualify if:

  • \- 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hôpital Necker-Enfants Malades

Paris, 75015, France

RECRUITING

MeSH Terms

Conditions

Aniridia

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Eye AbnormalitiesEye DiseasesEye Diseases, HereditaryIris DiseasesUveal DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Data CollectionEpidemiologic MethodsInvestigative TechniquesHealth Care Evaluation MechanismsQuality of Health CareHealth Care Quality, Access, and EvaluationPublic HealthEnvironment and Public Health

Study Officials

  • Alejandra Daruich, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR

  • Dominique Bremond-Gignac, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    STUDY DIRECTOR

Central Study Contacts

Alejandra Daruich, MD, PhD

CONTACT

1 44 38 19 69alejandra.daruich-matet@aphp.fr

Hélène Morel

CONTACT

1 71 19 63 46helene.morel@aphp.fr

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 20, 2022

First Posted

May 25, 2022

Study Start

June 8, 2023

Primary Completion (Estimated)

June 8, 2026

Study Completion (Estimated)

June 8, 2026

Last Updated

September 15, 2025

Record last verified: 2025-09

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)