Clinical Trials in France / NCT05954403
Recruiting
Observational
National Cohort on Congenital Defects of the Eye
NCT05954403 · tracked via the Priya Life Science France tracker
Condition(s) studied
AnophthalmiaMicrophthalmiaAniridiaAnterior Segment Dysgenesis 6, Peters Anomaly SubtypeAnterior Segment Dysgenesis 3, Rieger Subtype
Study 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
Eligibility
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
Primary outcome measure(s)
- 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
Trial sites (1)
| Facility | City | Region | Status |
|---|---|---|---|
| RaDiCo-ACOEIL | Paris | Île-de-France Region | Recruiting |
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Official registry record
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
View NCT05954403 on ClinicalTrials.gov ↗ ← All trials in France