Actively Recruiting
National Cohort on Congenital Defects of the Eye: Natural History, Genetic Determinisms and Outcome Prediction for Improved Patient Management
Led by Institut National de la Santé Et de la Recherche Médicale, France · Updated on 2026-02-12
800
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
This research focuses on congenital malformations of the eye, including microphthalmia, anophthalmia, aniridia, and anterior segment dysgenesis such as Peters and Axenfeld-Rieger anomalies. These conditions often come with extra-ocular features and intellectual disability, but much is still unknown about their visual outcomes and neurological effects. The study aims to include a range of malformations considered part of a phenotypic continuum and to follow affected children for 10 years to better understand their eye and neurological development, as well as other medical events. Researchers also want to identify factors linked to better or worse visual and neurological outcomes. The study is observational and will include both retrospective and prospective data collection. It involves children and adults with congenital eye defects. Participants will undergo various eye examinations such as visual acuity tests with refraction under cycloplegia, binocular vision assessments by orthoptists, slit lamp and fundus exams, ultrasound measurements of eyeball length, and several ocular imaging techniques like videotopography, ultrabiomicroscopy, and macular optical coherence tomography. Neurological evaluations will also be performed using standard procedures appropriate for age. These assessments will occur over multiple visits depending on the participant's age. Participants will be monitored through scheduled visits with up to three visits for children under 6 years, two visits for children aged 6 to under 8 years, and one visit for those 8 years and older. During these visits, visual and neurological functions will be carefully evaluated alongside questionnaires on quality of life and presence of extraocular malformations. The study aims to improve understanding of these rare conditions to enhance patient management and care over time.
CONDITIONS
Brief Title
National Cohort on Congenital Defects of the Eye
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Newborns and children from birth to 7 years old with anophthalmia, microphthalmia, aniridia, or anterior segment dysgenesis whose parents have given informed consent
- Children 8 years and older affected by anophthalmia, microphthalmia, aniridia, or anterior segment dysgenesis
- Adults affected by anophthalmia, microphthalmia, aniridia, or anterior segment dysgenesis
- Adults under guardianship with informed consent from guardians
- Adults able to understand and provide informed consent
- Adult parents of affected children willing to participate in genetic inheritance studies
- Patients affiliated with the French National Health Insurance system or foreign patients agreeing to be charged for medical fees
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 screening and enrollment visit
Duration - Up to 3 visits over initial assessment period depending on age
Participants undergo detailed visual and neurological assessments including visual acuity tests, binocular vision descriptions, slit lamp examination, ultrasound measurements, ocular imaging, and neurological evaluations tailored to age and condition.
Up to 3 visits for children under 6 years; up to 2 visits for children 6 to under 8 years; 1 visit for participants 8 years and older
Duration - Ongoing throughout the study duration
Participants are observed over time to track the progression of visual and neurological functions, and to assess quality of life and additional clinical features.
Follow-up visits as scheduled depending on participant's clinical needs and age category
Trial Site Locations
Total: 1 location
1
RaDiCo-ACOEIL
Paris, Île-de-France Region, France, 75012
Actively Recruiting
Research Team
N
Nicolas NC CHASSAING, Dr
P
Patrick CALVAS, Pr
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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