Clinical trials: Aniridia
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
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
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)
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
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, Congenital Aniridia
Treatment of LSCD With DM
Limbal Stem Cell Deficiency (LSCD) is a blinding disease that accounts for an estimated 15-20% of corneal blindness worldwide. Current treatments are limited.
- Trial name
- NCT05909735
- Testing
- transplantation of a Descemet's Membrane corneal onlay, partial LSCD, transplantation of a Descemet's Membrane corneal onlay, total/near-total LSCD
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- University of Minnesota
Aniridia
Comparison of the Healing Properties on Corneal Cells of Groth Factor-enriched Plasma and Autologous Serum From Aniridia Patients
Keratopathy of patients with aniridia leads to epithelial scarring disorders and a progressive clouding of the cornea linked to this abnormal healing (fibrosis).
- Trial name
- CICASAND (NCT05400590)
- Testing
- Peripheral venous blood sample, Conjunctival impression
- Where
- France
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Meibomian Gland Dysfunction, Cataract
Ultrahigh-resolution Optical Coherence Tomography Imaging of the Anterior Eye Segment Structures
The development of optical coherence tomography (OCT) and its application for in vivo imaging has opened entirely new opportunities in ophthalmology.
- Conditions
- Meibomian Gland Dysfunction, Cataract, Glaucoma, Corneal Transplantation
- Trial name
- NCT03461978
- Testing
- Ultrahigh resolution Spectral Domain OCT
- Where
- Austria
- Volunteers
- 14 people
- Sponsor
- Medical University of Vienna
Aniridia
RAFT - Clinical Trial of RAFT for Aniridia Related Keratopathy
The RAFT trial is a first in human trial of a novel cellular therapy called RAFT-OS (Real Architecture for 3D Tissues Ocular Surface) developed and manufactured by Cells for Sight Stem Cell Therapy Research Unit at UCL institute…
- Trial name
- RAFT (NCT05044598)
- Testing
- RAFT-OS
- Where
- United Kingdom
- Volunteers
- 9 people
- Sponsor
- University College, London
Graft vs Host Disease, Congenital Aniridia
Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation
The ARGOS-IO pressure sensor is intended to be implanted in the human eye in combination with Boston Keratoprosthesis (BKPro) surgery and to remain in place indefinitely.
- Conditions
- Graft vs Host Disease, Congenital Aniridia, Chemical Burns, Stevens-Johnson Syndrome
- Trial name
- NCT02945176
- Testing
- ARGOS-IO system
- Where
- 2 sites in Germany
- Volunteers
- 13 people
- Sponsor
- Implandata Ophthalmic Products GmbH
Aniridia
Proteomic Study of Tears From Patients With a PAX6 Mutation
This is a single-center prospective pilot study involving the ophthalmology and medical genetics departments of the Montpellier University Hospital, and the proteomics platform of the Montpellier University Hospital.
- Trial name
- PLAPAX6 (NCT05562115)
- Testing
- Tear collection
- Where
- France
- Volunteers
- 5 people
- Sponsor
- University Hospital, Montpellier
Rare Diseases, Aniridia
Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
The cross-sectional observational clinical study related to rare eye diseases is a multi-center study in which the hypothesis is that neurokinin 1 receptor and/or substance P expression is increased in REDs associated with…
- Conditions
- Rare Diseases, Aniridia, Neurotrophic Keratopathy, Limbal Stem Cell Deficiency
- Trial name
- NCT06412718
- Volunteers
- 274 people, healthy volunteers welcome
- Sponsor
- IRCCS Ospedale San Raffaele
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.
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
Aniridia, Iris; Deformity
Clinical Evaluation of Morcher Artificial Iris Diaphragms
The purpose of this study is to determine the safety and efficacy of Morcher iris diaphragms in the treatment of congenital and acquired aniridia.
- Trial name
- NCT00812708
- Testing
- Morcher iris diaphragm implantation
- Where
- United States
- Volunteers
- 72 people
- Sponsor
- University of California, Los Angeles
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
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)
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
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