Clinical trials: Aniridia, open to volunteers
Eye Abnormalities
Modeling Ocular Developmental Diseases From 3D Cultures of Optic Vesicle Organoids Derived From hiPSCs of Patients With Ocular Malformations
Ocular morphogenesis is a complex process starting as early as the 4th week of embryonic life, involving interactions between varioustissues of different origin and conserved genes.
- Trial name
- OrganoEye (NCT06408701)
- Testing
- Blood sampling
- Where
- 2 sites in France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Toulouse
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Congenital Aniridia
Congenital Aniridia Patient Questionnaire
Congenital aniridia is a pan-ocular genetic disease characterized by a partial or complete absence of the iris, hence its name. The prevalence ranges from 1 / 40,000 to 1 / 96,000 births, but it may be underestimated.
- Trial name
- Aniridia-Quizz (NCT05390801)
- Testing
- Survey
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Inherited Ophthalmic Diseases, Hypopigmentation Disorder
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Background: The eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a…
- Conditions
- Inherited Ophthalmic Diseases, Hypopigmentation Disorder, Corneal Dystrophy, Blue-cone Monochromacy
- Trial name
- NCT06491615
- Where
- 2 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- National Eye Institute (NEI)
Anophthalmia, Microphthalmia
National Cohort on Congenital Defects of the Eye
Congenital malformations of the eye comprise various developmental defects including microphthalmia, anophthalmia, aniridia, and anterior segment anomalies (such as Peters and Axenfeld-Rieger anomalies).
- Conditions
- Anophthalmia, Microphthalmia, Aniridia, Anterior Segment Dysgenesis 6, Peters Anomaly Subtype
- Trial name
- RaDiCoACOEIL (NCT05954403)
- Where
- France
- Volunteers
- 800 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France