Congenital AniridiaAniridia-QuizzNCT05390801
Congenital Aniridia Patient Questionnaire
An observational study of Congenital Aniridia, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Congenital Aniridia
- What is being tested?
- Survey
- How many people
- 100 participants
- Where
- 1 siteFrance
- Study dates
- 8 Jun 2023to 8 Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients followed in Necker Enfants Malades hospital, the referral center in France for congenital aniridia.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Hôpital Necker-Enfants Malades
Paris, 75015
Alejandra Daruich, MD, PhD, 1 44 38 19 69, alejandra.daruich-matet@aphp.fr
About this study
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.
Read the 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.
- Conditions
- Congenital Aniridia
- Being tested
- Survey
- Keywords
- Congenital aniridia, Patient survey, Patients knowledge
- Medical subject headings
- Aniridia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: Survey |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 24 months
Secondary outcomes (4)
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 May 2022
- Study start8 Jun 2023
- Primary completion8 Dec 2027 (estimated)
- Study completion8 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital AniridiaStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Alejandra Daruich, MD, PhD, Principal investigator, Assistance Publique - Hôpitaux de ParisDominique Bremond-Gignac, MD, PhD, Study director, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05390801
- Sponsor's protocol ID
- APHP220119
- Other IDs
- 2021-A02363-38
- Acronym
- Aniridia-Quizz
- Status last verified
- May 2026
- First submitted
- 20 May 2022
- Last updated
- 2 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Congenital Aniridia Patient Questionnaire
- ClinicalTrials.gov ID
- NCT05390801
- Acronym / sponsor ID
- Aniridia-Quizz / APHP220119
- Conditions
- Congenital Aniridia
- Keywords
- Congenital aniridia, Patient survey, Patients knowledge
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 8 Jun 2023 (actual)
- Primary completion
- 8 Dec 2027 (estimated)
- Study completion
- 8 Dec 2027 (estimated)
- First posted
- 25 May 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients | – | Other: SurveyAny 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients followed in Necker Enfants Malades hospital, the referral center in France for congenital aniridia.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SurveySurvey 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. | Other | Patients |
Primary outcome
Ocular and systemic manifestations in congenital aniridia
Time frame: 24 months
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.
4 secondary outcomes
Patient's autonomy
Time frame: 24 months
Patients knowledge
Time frame: 24 months
Factors influencing patient knowledge
Time frame: 24 months
Parental knowledge
Time frame: 24 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jun 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Alejandra Daruich, MD, PhD principal investigator
Assistance Publique - Hôpitaux de Paris
Dominique Bremond-Gignac, MD, PhD study director
Assistance Publique - Hôpitaux de Paris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Aniridia, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 2 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Alejandra Daruich, MD, PhD (1 44 38 19 69 ext. +33, alejandra.daruich-matet@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Ocular and systemic manifestations in congenital aniridia (time frame: 24 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jun 2026.