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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05390801
Other study ID # APHP220119
Secondary ID 2021-A02363-38
Status Recruiting
Phase
First received
Last updated
Start date June 8, 2023
Est. completion date June 8, 2025

Study information

Verified date June 2023
Source Assistance Publique - Hôpitaux de Paris
Contact Alejandra Daruich, MD, PhD
Phone 1 44 38 19 69
Email alejandra.daruich-matet@aphp.fr
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 100
Est. completion date June 8, 2025
Est. primary completion date June 8, 2025
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility 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 Design


Related Conditions & MeSH terms


Intervention

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.

Locations

Country Name City State
France Hôpital Necker-Enfants Malades Paris

Sponsors (1)

Lead Sponsor Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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 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
Secondary 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
Secondary 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
Secondary 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
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