Clinical Research Directory

Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)

The Vision Research and Assessment Institute (VRAI) was established with the purpose of serving as a testing facility for efficacy endpoints for patients with Low Vision. The mission of the VRAI is to enable the highest quality, standardized efficacy testing of patients with visual impairment. The VRAI facilitates the development and refinement of existing endpoints specifically for testing patients with Low Vision.

Natural History Study of Inherited Retinal Diseases

This prospective, observational investigation seeks to delineate the interplay between chromatic vision deficits and both functional visual outcomes and anatomical retinal biomarkers in individuals affected by Inherited Retinal Dystrophies (IRDs). The study will recruit approximately 200 subjects, encompassing a heterogeneous population of IRD patients-spanning a range of genotypes and clinical severities-as well as control participants devoid of retinal pathology. All enrolled individuals will undergo a standardized battery of evaluations, including quantitative color vision assessment, best-corrected visual acuity (BCVA) determination, and advanced multimodal retinal imaging. The principal aim is to characterize the relationship between impairments in color discrimination and morphologic disruptions within the outer retinal layers, with particular emphasis on the continuity and reflectivity of the ellipsoid zone (EZ)-historically referred to as the inner segment/outer segment (IS/OS) junction-assessed through spectral-domain optical coherence tomography (SD-OCT). Further, the study will explore associations between chromatic perceptual deficits and underlying genetic mutations, mutation patterns specific to IRD subtypes, and the influence of patient age on the severity and progression of color vision loss. A key secondary objective is the clinical appraisal and validation of a novel diagnostic modality, the Moji Low-Vision Color Discrimination Test (Moji Test), which is specifically engineered to quantify residual color perception in individuals with advanced central visual impairment. The test's discriminatory capacity will be benchmarked against established color vision testing paradigms to assess its reliability, clinical sensitivity, and suitability for implementation in populations with severe visual acuity reduction. By incorporating a genetically and phenotypically diverse IRD cohort, the study is designed to enable granular, stratified analyses that will refine the understanding of structural-functional correlations in hereditary retinal disease. The inclusion of a control group with preserved retinal architecture and normal color vision function will provide essential normative baselines for comparative evaluation and statistical inference.

A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001

This is a Phase 1/2 repeat-dose, open-label, two-arm, parallel group safety and efficacy study of two doses of VP-001 (30 μg and 75 μg) in participants with confirmed PRPF31 mutation-associated retinal dystrophy, including participants previously treated with VP001 in the PLATYPUS Study or WALLABY Study for a minimum of 8 weeks.

SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)

The goal of this observational study is to utilize a novel imaging system designed for high-resolution retinal imaging of neonates, infants and children to identify the signs of photoreceptor development and degeneration in children with early-onset inherited retinal dystrophies (EORDs). Participants will have research imaging with SS-HH-OCT at the time of clinically-indicated eye examinations or procedures. The investigators aim to establish the basis for utilization of OCT imaging in earlier diagnosis and disease monitoring in children with EORDs. This work will set data reference standards and IRD endpoints that can be used in clinical trials.

The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration

Oral disulfiram (Antabuse®) has been shown to improve image-forming vision in animal models with retinal degeneration due to its ability to decrease Retinoic Acid synthesis and consequently reduce hyperactivity in the inner retina. The investigator will aim to evaluate the impact of oral disulfiram on the vision of patients with retinal degeneration who are being treated with the drug in the management of their concurrent alcohol use disorder.

EyeConic: Qualification for Cone-Optogenetics

This study aims to prepare for the first-in-human clinical trial of cone optogenetics vision restoration. As a first step, this worldwide multicenter ocular imaging study (EyeConic Study) is performed to identify eligible patients.

Non-Interventional Long Term Follow-up Study of Participants Previously Enrolled in the RESTORE Study

This study will be conducted following Good Clinical Practice (GCP) and International Conference on Harmonization (ICH) guidelines. Eligible subjects will be consented to return for scheduled study visits for this study following their completion in study NTXMCO-002 (RESTORE). They will not receive a second treatment with MCO-010 (or a repeated sham injection) in this study

Natural History of PRPF31 Mutation-Associated Retinal Dystrophy

The purpose of this study is to characterize the natural history through temporal systemic evaluation of subjects identified with PRPF31 mutation-associated retinal dystrophy, also called retinitis pigmentosa type 11, or RP11. Assessments will be completed to measure and evaluate structural and functional visual changes including those impacting patient quality of life associated with this inherited retinal condition and observing how these changes evolve over time.

MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)

A Phase 1 Open-Label, Multiple Ascending Dose Study to Evaluate the Safety and Tolerability of Intravitreally Administered VP-001 in Participants with Confirmed PRPF31 Mutation-Associated Retinal Dystrophy

Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration

The Vision Research and Assessment Institute (VRAI) was established with the purpose of serving as a testing facility for efficacy endpoints for patients with Low Vision. The mission of the VRAI is to enable the highest quality, standardized efficacy testing of patients with visual impairment. The VRAI facilitates the development and refinement of existing endpoints specifically for testing patients with Low Vision.

Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer

Objective perimetry can better monitor visual field defects in retinal dystrophy and Glaucoma patients than conventional subjective perimetry. The PLR ( Pupil Light Reflex to short and long wavelength stimuli should be significantly lower compared to healthy participants in areas of visual field defects in retinal dystrophy and Glaucoma patients.

A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene

This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses. Single injections will be assessed in an open label way, and repeat injections will be assessed in a double-masked, randomized, sham-controlled fashion.