Clinical trials: Aniridia
WAGR Syndrome, Wilm's Tumor
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of…
- Conditions
- WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities
- Trial name
- NCT00758108
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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)
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
Limbal Stem Cell Deficiency
Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency
The purpose of this study is to determine whether cultivated stem cell transplantation is effective for the treatment of patients wtih corneal stem cell deficiency.
- Trial name
- LECT (NCT00845117)
- Testing
- Cultivated limbal stem cell graft transplantation
- Where
- Belgium
- Volunteers
- 21 people
- Sponsor
- Veerle Van Gerwen
Aniridia
Study of Ataluren in Participants With Nonsense Mutation Aniridia
This study is designed to evaluate the effect of ataluren on Maximum Reading Speed as measured using the Minnesota Low Vision Reading Test (MNREAD) Acuity Charts in participants with nonsense mutation aniridia.
- Trial name
- STAR (NCT02647359)
- Testing
- Ataluren
- Where
- 3 sites in United States, Canada
- Volunteers
- 39 people
- Sponsor
- PTC Therapeutics
Full Aniridia, Partial Aniridia
Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris Defects
The purpose of this study is to study the long term safety and effectiveness of an artificial iris prosthesis for the treatment of iris defects.
- Trial name
- NCT01860612
- Testing
- Artificial Iris (CustomFlex)
- Where
- 13 sites in United States
- Volunteers
- 500 people
- Sponsor
- Clinical Research Consultants, Inc.
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
Aniridia
A Phase 2 Open Label Extension Study in Participants With Nonsense Mutation Aniridia
This is a Phase 2, multicenter, open-label study evaluating the overall systemic and ocular safety profile of ataluren in nonsense mutation aniridia as determined by the incidences of treatment-emergent adverse events (TEAEs) as…
- Trial name
- NCT04117880
- Testing
- Ataluren
- Sponsor
- PTC Therapeutics
Aniridia
Positive Angle Kappa
Patients with aniridia have positive angle kappas.
- Trial name
- NCT01644552
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Aniridia
Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia
This study will examine specific gene changes in patients with aniridia, a disease in which the iris (colored part of the eye) is absent or partially absent, and will correlate the changes with clinical manifestations of the…
- Trial name
- NCT00265590
- Where
- 3 sites in United States
- Volunteers
- 100 people
- Sponsor
- National Eye Institute (NEI)
Wilms' Tumor, Aniridia
Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies
The goal of this clinical research study is to collect information and blood samples to try to learn why some people develop cancers and tumors, why some families have more cancers than others, and whether certain genes or…
- Trial name
- NCT00503893
- Testing
- Questionnaire, Blood specimen
- Where
- United States
- Volunteers
- 295 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Aniridia, Eye Abnormality
Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens
This study will investigate congenital or developmental eye abnormalities that affect the iris, cornea and lens, and are usually accompanied by elevated pressure within the eye.
- Conditions
- Aniridia, Eye Abnormality, Ocular Hypertension, Open Angle Glaucoma
- Trial name
- NCT00001161
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- National Eye Institute (NEI)