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Aniridia clinical trials

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NCT ID: NCT06412718 Not yet recruiting - Rare Diseases Clinical Trials

Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies

Start date: May 2024
Phase:
Study type: Observational

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 inflammation/pain. Moreover, the following alternative targets are: VEGF, PAX6 and pro-inflammatory cytokine. The following procedures are performed specifically for the study: samples of blood, tear fluid and impression cytology. Precisely during the ophthalmological exam performed according to normal clinical practice (uncorrected visual acuity, best spectacle corrected visual acuity, corneal topography, corneal pachymetry and the slit lamp pictures) investigator's team collect the samples of blood, tear fluid and impression cytology to evaluate the goal of the study.

NCT ID: NCT05954403 Recruiting - Aniridia Clinical Trials

National Cohort on Congenital Defects of the Eye

RaDiCoACOEIL
Start date: July 11, 2017
Phase:
Study type: Observational

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

NCT ID: NCT05909735 Recruiting - Clinical trials for Limbal Stem-cell Deficiency

Treatment of LSCD With DM

Start date: November 30, 2023
Phase: Phase 1
Study type: Interventional

Limbal Stem Cell Deficiency (LSCD) is a blinding disease that accounts for an estimated 15-20% of corneal blindness worldwide. Current treatments are limited. Traditional corneal transplantation with penetrating keratoplasty (PKP) is ineffective in treating these patients. Without a healthy population of limbal stem cells (LSC) to regenerate the corneal epithelium, standard corneal transplants will not re-epithelialize and will rapidly scar over or melt. The limbal niche is the microenvironment surrounding the LSCs that is critical for maintaining their survival and proliferative potential under physiologic conditions. Extracellular signals from the microenvironment are critical to the normal function and maintenance of pluripotent stem cells. Identifying an effective niche replacement is thus an important focus of limbal stem cell research and critical for advancing treatments for LSCD. Descemet's membrane (DM), an acellular, naturally occurring, basement membrane found on the posterior surface of the cornea, is a promising niche replacement. DM is routinely isolated and transplanted intraocularly with associated donor corneal endothelium for treatment of diseases like Fuchs' dystrophy and corneal bullous keratopathy that specifically affect DM and corneal endothelium. However, its application on the ocular surface has not been explored. DM is optically clear and highly resistant to collagenase digestion. This makes it very attractive as a long-term corneal on-lay and niche replacement on the surface of the eye. The anterior fetal banded layer of DM shares key compositional similarities with limbal basement membrane, which is a major component of the limbal niche. These similarities include limbus-specific extracellular matrix proteins such as collagen IV that is restricted to the α1, α2 subtypes, vitronectin, and BM40/SPARC. Of these, vitronectin and BM40/SPARC are known to promote proliferation of LSCs and induced pluripotent stem cells (iPSC) in culture. Because of this, DM is a promising biological membrane for establishing a niche-like substrate on the corneal surface in patients with LSCD. The purpose of this pilot study is to investigate the clinical efficacy of using DM as a corneal on-lay to promote corneal re-epithelialization in partial LSCD.

NCT ID: NCT05562115 Recruiting - Aniridia Clinical Trials

Proteomic Study of Tears From Patients With a PAX6 Mutation

PLAPAX6
Start date: February 9, 2023
Phase: N/A
Study type: Interventional

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. 5 patients with PAX6 pathogenic variation will be included in order to determine the proteomic profile in a tear sample associated with different pathogenic variations of the PAX6 gene. Participation in the study for the patients consists of a single visit with an ophthalmological examination and a tear collection.

NCT ID: NCT05400590 Recruiting - Aniridia Clinical Trials

Comparison of the Healing Properties on Corneal Cells of Groth Factor-enriched Plasma and Autologous Serum From Aniridia Patients

CICASAND
Start date: May 15, 2023
Phase:
Study type: Observational

Keratopathy of patients with aniridia leads to epithelial scarring disorders and a progressive clouding of the cornea linked to this abnormal healing (fibrosis). Treatment with autologous serum is usually undertaken to promote epithelial healing. However, autologous serum does not prevent the formation of fibrosis, whereas growth factor-rich plasma appears to be associated with a reduction in the in vitro expression of fibrosis markers. This study seeks to compare the in vitro healing and anti-fibrotic properties of autologous serum and growth factor rich plasma from aniridia patients and healthy controls.

NCT ID: NCT05390801 Recruiting - Congenital Aniridia Clinical Trials

Congenital Aniridia Patient Questionnaire

Aniridia-Quizz
Start date: June 8, 2023
Phase:
Study type: Observational

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. This condition combines several types of eye damage and could associate systemic manifestations, with a variable phenotype and genotype. This study aims to identify eye and systemic manifestations in congenital aniridia and to determine the patients' knowledge of their own disease through a survey prepared by ophthalmologists from the Ophthalmology Department of Necker-Enfants Malades Hospital, reference center in France for this pathology. The patient fills it out only once.

NCT ID: NCT05044598 Recruiting - Aniridia Clinical Trials

RAFT - Clinical Trial of RAFT for Aniridia Related Keratopathy

RAFT
Start date: July 28, 2021
Phase: Phase 1/Phase 2
Study type: Interventional

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 of Ophthalmology. The aim of this seamless phase I/II single-dose, single-arm trial is to investigate if RAFT-OS is a safe and effective alternative treatment for patients with aniridia related keratopathy (ARK) in 21 patients. ARK is a complication of aniridia, which is a genetic eye condition present from birth. RAFT-OS is an artificial tissue, populated with limbal epithelial cells and stromal cells. The source of the adult limbal and stromal cells is from donated human corneas from the NHS blood and Transplant, Tissue and Eye services in Liverpool. Following a Screening visit, participants will commence 10-weeks of immune suppression therapy to prepare for the transplantation of RAFT-OS. The RAFT-OS will be transplanted into the participants worst affected eye. Following surgery, each participant will be assessed at days 1, 7, 14, 21, and 1-month for major or intermediate safety events. Participants will continue to be followed up to 12 months after transplantation and will be required to stay on the immune suppression therapy for the duration of the trial. The trial is conducted at Moorfields Eye Hospital NHS Foundation Trust (MEH), London in the United Kingdom (UK). MEH is a leading provider of eye health services in the UK and is a world-class centre of excellence for ophthalmic research and education. All trial medical assessments and procedures will be performed in an appropriate clinical setting by suitability qualified staff.

NCT ID: NCT04117880 Withdrawn - Aniridia Clinical Trials

A Phase 2 Open Label Extension Study in Participants With Nonsense Mutation Aniridia

Start date: December 31, 2018
Phase: Phase 2
Study type: Interventional

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 well as abnormal findings on laboratory assessments, vital signs, physical examinations, ophthalmoscopy, and slit-lamp examination. Participants who complete PTC124-GD-028 ANI (NCT02647359) meet all inclusion and none of the exclusion criteria will be enrolled into this study.

NCT ID: NCT03581864 Completed - Aniridia Clinical Trials

Clinical Outcomes of Implantationof Black Diaphragm Intraocular Lens in Complete Aniridia and Aphakia Due to Posttraumatic Eye Rupture

Start date: January 1, 2006
Phase:
Study type: Observational

Purpose: To assess long-term outcomes of implantation of black diaphragmintraocular lens (BD IOL) in postraumatic aniridia and aphakia due to eye rupture. METHODS: This is retrospective consecutive case series of 14 eyes with post-traumatic complete aniridia and aphakia treated withscleral fixation of BD IOL with. Measurements included ophthalmological comorbidities, best corrected visual acuity (BCVA), complications, and postoperative interventions. The average postoperative follow-up period was 36 months.

NCT ID: NCT03461978 Enrolling by invitation - Cataract Clinical Trials

Ultrahigh-resolution Optical Coherence Tomography Imaging of the Anterior Eye Segment Structures

Start date: July 12, 2017
Phase: N/A
Study type: Interventional

The development of optical coherence tomography (OCT) and its application for in vivo imaging has opened entirely new opportunities in ophthalmology. The technology allows for both noninvasive visualization of the morphology and measurement of functional parameters within ocular tissues to a depth of a few millimetres even in nontransparent media. Until now the resolution of commercially available OCT systems is, however, much lower than that provided by light microscopy. Recently, an ultrahigh-resolution OCT system was developed by our group providing resolutions of 1.7 and 17 µm in axial and lateral direction, respectively. This axial resolution is about four times better than that provided by standard OCT systems. It allows to perform in vivo imaging with a resolution close to biopsy of tissue and to visualize structures of the anterior eye segment with a remarkable richness of detail. The prototype was applied for in vivo imaging of the cornea including the precorneal tear film. The goal of the planned pilot study is to apply this innovative imaging modality for visualization of the ultrastructure of the different parts of the anterior eye segment structures in diseased subjects, as well as in patients who underwent minimally invasive glaucoma surgery (MIGS). The obtained in vivo cross sectional images and three-dimensional data sets are hoped for contributing to the knowledge about the anatomy and physiology of the corresponding tissues. This could allow for a better interpretation of clinical features and findings obtained in slit lamp examination.