Clinical trial NCT05390801: Congenital Aniridia Patient Questionnaire
Official title: Congenital Aniridia Patient Questionnaire
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Congenital Aniridia
Keywords: Congenital aniridia
Patient survey
Patients knowledge
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2022-05-25
Enrollment: 100
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients followed in Necker Enfants Malades hospital, the referral center in France for congenital aniridia.

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.

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.

Primary outcomes:
measure: Ocular and systemic manifestations in congenital aniridia
timeFrame: 24 months
Secondary outcomes:
measure: Patient's autonomy
timeFrame: 24 months
measure: Patients knowledge
timeFrame: 24 months
measure: Factors influencing patient knowledge
timeFrame: 24 months
measure: Parental knowledge
timeFrame: 24 months
Other outcomes:
Locations:
city: Paris
country: France
facility: Hôpital Necker-Enfants Malades
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris
name: Alejandra Daruich, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Assistance Publique - Hôpitaux de Paris
name: Dominique Bremond-Gignac, MD, PhD
role: STUDY_DIRECTOR
References: