NCT05954403Recruiting
National Cohort on Congenital Defects of the Eye
National Cohort on Congenital Defects of the Eye: Natural History, Genetic Determinisms and Improved Ocular and Extra-ocular Outcome Prediction for Better Patient Management
Source: ClinicalTrials.gov · Last updated 7 Jul 2026
Brief summary (registry, in English)
Congenital malformations of the eye comprise various developmental defects including microphthalmia, anophthalmia, aniridia, and anterior segment anomalies (such as Peters and Axenfeld-Rieger anomalies). These malformations are frequently associated with extra-ocular features and intellectual disability. However, little is known about visual outcome, frequency and consequences of extra-ocular features in patients. The originality of the project will be to include a spectrum of malformation thought to be a phenotypic continuum (anophthalmia, microphthalmia, aniridia, anterior segment dysgnesis). In addition, we aim to conduct a 10 year follow-up of these children, thus allowing determining ocular and neurological outcomes as any other medical event. We should also be able to determine phenotypic factors that would be associated with good or poor visual and neurologic outcomes
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 800 (estimated)
- First submitted
- 20 Dec 2021
- Start date
- 11 Jul 2017
- Primary completion date
- Jul 2037
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
- NCT number
- NCT05954403
What you commit to
- Study type: Observational
- Planned participants: 800
- From 11 Jul 2017 to the primary completion date, Jul 2037
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- No exclusion criteria
Who the study is looking for
- Newborns and/or children from birth to 7 years old, Children from 8 years old affected with the following ocular defects: anophthalmia, microphthalmia, aniridia or anterior segment dysgnesis.whose parents will have properly evaluated risks and benefits of the study and will be given an informed consent to participate the protocol.
- Patients affiliated to the "Régime National d'Assurance Maladie". Inclusion of foreign patients will be possible through the French inclusion centers when they agreed to be charged for all medical fees.
- Adults affected with the following ocular defects: anophthalmia, microphthalmia, aniridia or anterior segment dysgenesis
- Adult patients under guardianship whose guardians will have properly evaluated risks and benefits of the study and will be given an informed consent to participate the protocol. Indeed, intellectual disability may be associated with the ocular defects and we will need to include these patients in order to evaluate incidence of this event.
- Adult patients able to properly evaluate risks and benefits of the study and to give their informed consent to participate to the protocol.
- Adult parents of an affected child participating to the study and willing to participate to the inheritance study (results of DNA analysis).
- Inclusion of foreign patients will be possible through the French inclusion centres when they agreed to be charged for all medical fees.
- Pregnant women can be included in the study
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| RaDiCo-ACOEIL Coordinator of this site? Confirm its status | Paris | France | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.