National cohort for congenital eye defects

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Understanding genetic factors in children with eye defects

  This study is trying to learn more about the genetic factors and physical traits in children with eye defects like Microphthalmia, Anophthalmia, and Coloboma to improve prevention and treatment options.

  Recruiting Baylor College of Medicine · Houston, Texas · NCT06293560

• Understanding the genetics of eye development disorders

  This study is trying to find out how genetics play a role in eye development disorders like microphthalmia, anophthalmia, and uveal coloboma by looking at people with these conditions and their family members.

  Recruiting National Institutes of Health Clinical Center (CC) · Bethesda, Maryland · NCT01778543

• Expansion of a genetic and data repository for rare eye diseases

  This study is collecting genetic and health information from people with rare eye diseases like Aniridia and Best disease, along with their family members, to help improve understanding and treatment options for these conditions.

  Recruiting at 2 sites National Institutes of Health Clinical Center (CC) · Bethesda, Maryland and 1 other locations · NCT06491615

• Comparing healing effects of growth factor-rich plasma and autologous serum in aniridia patients

  This study is testing whether growth factor-rich plasma or autologous serum helps heal the eyes better in people with aniridia, a condition that causes corneal scarring.

  Recruiting Fondation Ophtalmologique Adolphe de Rothschild · Paris · NCT05400590

• Registry for patients with rare diseases

  This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.

  Recruiting Sanford Health · Sioux Falls, South Dakota · NCT01793168

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.