Congenital Aniridia Patient Questionnaire

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• 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.

Locations
Other Locations
France
Hôpital Necker-Enfants Malades
RECRUITING
Paris
Contact Information
Primary
Alejandra Daruich, MD, PhD
alejandra.daruich-matet@aphp.fr
1 44 38 19 69
Backup
Hélène Morel
helene.morel@aphp.fr
1 71 19 63 46
Time Frame
Start Date: 2023-06-08
Estimated Completion Date: 2026-06-08
Participants
Target number of participants: 100
Treatments
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.
Related Therapeutic Areas
Sponsors
Collaborators: URC-CIC Paris Descartes Necker Cochin
Leads: Assistance Publique - Hôpitaux de Paris

This content was sourced from clinicaltrials.gov