National Cohort on Congenital Defects of the Eye

NCT05954403 | Recruiting

• 1 other identifier: C15-47
• Study Type: observational
• Target: 800
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Aniridia; Anterior Segment Dysgenesis 3, Rieger Subtype; Anophthalmia; Microphthalmia; Anterior Segment Dysgenesis 6, Peters Anomaly Subtype

Keywords

Anophthalmia-Microphthalmia-Aniridia; anterior segment dysgenesis; Peters anomaly; Axenfeld-Rieger anomaly; Congenital malformations of the eye; Neuropsychological evaluation

Outcome Measures

Primary Outcomes (10)

• Visual acuity including distance and near vision, completed if necessary by a low vision evaluation with ETDRS scale, will be conducted with refraction under cycloplegia.

  Up to 3 visits for patients < 6 years / Up to 2 visits for patients ≥ 6 years and < 8 years / 1 visit for patiens ≥ 8 years

• An accurate description of the binocular vision by orthoptists

  Up to 3 visits for patients < 6 years / Up to 2 visits for patients ≥ 6 years and < 8 years / 1 visit for patiens ≥ 8 years

• Slit lamp examination and fundus with imaging will be useful to specify the disease.

  Up to 3 visits for patients < 6 years / Up to 2 visits for patients ≥ 6 years and < 8 years / 1 visit for patiens ≥ 8 years

• An ultrasound measurement will evaluate axial length of eyeball.

  Up to 3 visits for patients < 6 years / Up to 2 visits for patients ≥ 6 years and < 8 years / 1 visit for patiens ≥ 8 years

• Some imaging ocular techniques as videotopography (Pentacam)

  Up to 3 visits for patients < 6 years / Up to 2 visits for patients ≥ 6 years and < 8 years / 1 visit for patiens ≥ 8 years

• Some imaging ocular techniques as ultrabiomicroscopy to evaluate anterior segment

  Up to 3 visits for patients < 6 years / Up to 2 visits for patients ≥ 6 years and < 8 years / 1 visit for patiens ≥ 8 years

• Some imaging ocular techniques as macular OCT (spectral-domain optical coherence tomography)

  Up to 3 visits for patients < 6 years / Up to 2 visits for patients ≥ 6 years and < 8 years / 1 visit for patiens ≥ 8 years

• Imaging techniques to evaluate retina and optic nerve will be completed as appropriate due to the condition of the patient (low vision, nystagmus…).

  Up to 3 visits for patients < 6 years / Up to 2 visits for patients ≥ 6 years and < 8 years / 1 visit for patiens ≥ 8 years

• Neurological examination will be based on standard procedures (WISC at age 6 and WISCIV at age 10)

  Up to 3 visits for patients < 6 years / Up to 2 visits for patients ≥ 6 years and < 8 years / 1 visit for patiens ≥ 8 years

• Procedures adapted to visually impaired children when necessary

  Up to 3 visits for patients < 6 years / Up to 2 visits for patients ≥ 6 years and < 8 years / 1 visit for patiens ≥ 8 years

Secondary Outcomes (3)

• Ocular defects, unilateral or bilateral involvement

  Up to 3 visits for patients < 6 years / Up to 2 visits for patients ≥ 6 years and < 8 years / 1 visit for patiens ≥ 8 years

• Extraocular malformations

  Up to 3 visits for patients < 6 years / Up to 2 visits for patients ≥ 6 years and < 8 years / 1 visit for patiens ≥ 8 years

• Quality of life questionnaires

  Up to 3 visits for patients < 6 years / Up to 2 visits for patients ≥ 6 years and < 8 years / 1 visit for patiens ≥ 8 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients from 0 to 7 years old We aim to include most patients born with a developmental ocular defect. Even if most ocular defects are diagnosed during the first months of age, patients could be included in the cohort until 7 years old. Patients over 8 years old: Affected adults and children over 8 years old will not be included in the follow-up subgroup.

You may qualify if:

• 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.
• 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).
• Pregnant women can be included in the study

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (1)

RaDiCo-ACOEIL

Paris, Île-de-France Region, 75012, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Most of the affected patients have genetic screening of genes involved in ocular developmental defects for diagnosis purpose. Thanks to the organisation of the French geneticists' network, molecular diagnostics of the main genes involved in these ocular defects is centralized in the two principal investigators' laboratory. A panel of 25 genes will be screened by highthroughput sequencing in the laboratory in incident patients and prevalent ones with no previously identified mutation. If no known mutation is identified in a given patient, screening for new genes, once identified as involved in these malformations, will be performed using samples collected and stored at the CHU de Toulouse as part of the current procedure for diagnostic analyses.

MeSH Terms

Conditions

Anophthalmos; Microphthalmos; Aniridia; Iris hypoplasia and glaucoma; Anterior segment mesenchymal dysgenesis; Peters anomaly; Axenfeld-Rieger syndrome

Condition Hierarchy (Ancestors)

Eye Abnormalities; Eye Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases, Hereditary; Iris Diseases; Uveal Diseases; Genetic Diseases, Inborn

Study Officials

• Nicolas NC CHASSAING, Dr

  Centre de référence des maladies ophtalmologiques rares

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Nicolas NC CHASSAING, Dr

CONTACT

0033 5 61 77 90 55; chassaing.n@chu-toulouse.fr

Patrick CALVAS, Pr

CONTACT

0033 5 61 77 90 79; calvas.p@chu-toulouse.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 20, 2021
• First Posted: July 20, 2023
• Study Start: July 11, 2017
• Primary Completion (Estimated): July 1, 2037
• Study Completion (Estimated): July 1, 2037
• Last Updated: February 12, 2026

Record last verified: 2026-02

Locations

FR (1)