National cohort for congenital eye defects
National Cohort on Congenital Defects of the Eye: Natural History, Genetic Determinisms and Improved Ocular and Extra-ocular Outcome Prediction for Better Patient Management
This study looks at how congenital eye defects affect vision and development in newborns, children, and adults over ten years to help improve care for those with these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 800 (estimated) |
| Sex | All |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France Government |
| Locations | 1 site (Paris, Île-de-France Region) |
| Trial ID | NCT05954403 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate congenital malformations of the eye, including conditions such as anophthalmia, microphthalmia, aniridia, and anterior segment dysgenesis. It will follow a cohort of affected newborns and children up to 7 years old, as well as adults with these conditions, over a 10-year period to assess visual and neurological outcomes. The study seeks to identify prognostic factors that influence these outcomes and to better understand the frequency of associated extra-ocular features and developmental delays. By gathering comprehensive data, the study aims to improve care protocols for affected individuals.
Who should consider this trial
Good fit: Ideal candidates include newborns and children up to 7 years old, as well as adults with anophthalmia, microphthalmia, aniridia, or anterior segment dysgenesis.
Not a fit: Patients without any of the specified ocular defects or those who do not meet the age criteria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of congenital eye defects, enhancing the quality of life for affected patients.
How similar studies have performed: While studies on congenital eye defects exist, this comprehensive long-term follow-up approach is relatively novel and aims to fill significant knowledge gaps.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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 Exclusion Criteria: * No exclusion criteria
Where this trial is running
Paris, Île-de-France Region
- RaDiCo-ACOEIL — Paris, Île-de-France Region, France (Recruiting)
Study contacts
- Principal investigator: Nicolas NC CHASSAING, Dr — Centre de référence des maladies ophtalmologiques rares
- Study coordinator: Nicolas NC CHASSAING, Dr
- Email: chassaing.n@chu-toulouse.fr
- Phone: 0033 5 61 77 90 55
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.