[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"retinal-dystrophies\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:retinal-dystrophies":29},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,7,0,[8,43,81,112,136,162,183],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100631590","development-and-evaluation-of-functional-visual-field-and-navigation-endpoints-in-moderate-to-profound-inherited-retinal-disease-define-ird-100631590",false,"NCT07502664","Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)","DEFINE-IRD","Inclusion Criteria:\n\n* Diagnosis of bilateral retinitis pigmentosa (RP) or other retinal dystrophies impacting peripheral vision as confirmed from previous eye examination records\n* Best-corrected visual acuity between 20\u002F200 to HM in at least one eye.\n* Reasonably fluent in English or Spanish\n\nExclusion Criteria:\n\n* Cognitive impairment, memory loss or dementia sufficient in severity to preclude informed consent or in the opinion of the investigator would prevent satisfactory completion of some or all of the testing.\n* Any circumstance that in the opinion of the investigator, would interfere with participation in, or compliance with the study protocol\n* Current pregnancy as reported by patient","ALL","18 Years",{"count":19,"type":20},25,"ESTIMATED","OBSERVATIONAL","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.\n\nThe mission of the VRAI is to enable the highest quality, standardized efficacy testing of patients with visual impairment.\n\nThe VRAI facilitates the development and refinement of existing endpoints specifically for testing patients with Low Vision.",[24,25,26,27,28,29],"Retinitis Pigmentosa","Stargardt Macular Dystrophy","Stargardt Disease","Geographic Atrophy From Age-related Macular Degeneration","X-linked Retinoschisis","Retinal Dystrophies","RECRUITING","2026-03-24",{"date":33,"type":34},"2026-03-31","ACTUAL",{"date":36,"type":34},"2026-02-19",{"date":38,"type":20},"2027-02",{"name":40,"class":41},"Ray Therapeutics, Inc.","INDUSTRY",1,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":48,"acronym":49,"eligibilityCriteria":50,"healthyVolunteers":51,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":52,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":54,"conditions":55,"keywords":65,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":72,"lastUpdatePostDateStruct":73,"startDateStruct":75,"completionDateStruct":77,"leadSponsor":79,"locationsCount":42},"100599518","natural-history-study-of-inherited-retinal-diseases-100599518","NCT07085533","Natural History Study of Inherited Retinal Diseases","Color Vision Loss Progression in IRD Patients: Retinal Structural Changes Correlations, and a Novel Color Discrimination Test for Extreme Low Vision Patients","MojiLVCDT","Inclusion Criteria:\n\n1. Color Perception and Communication Ability Participants must have the ability to verbally identify or describe colors and test stimuli. This requires adequate cognitive and communicative capacity to understand instructions and respond appropriately during color vision testing.\n2. Diagnosis of Inherited Retinal Dystrophy (IRD Group Only) Participants assigned to the IRD group must have a confirmed clinical diagnosis of an inherited retinal dystrophy\n3. No Evidence of Inherited Retinal Disease (Control Group Only)\n\nParticipants in the control group must have:\n\n* No known history or clinical evidence of inherited retinal degeneration\n* Normal retinal health or only non-retinal ocular conditions not affecting retinal function (e.g., mild cataract, corrected refractive error)\n* Normal or expected-normal color vision\n\nExclusion Criteria:\n\n1. Non retinal causes of color vision loss\n\n   * Optic neuropathies (e.g., optic neuritis, glaucoma related optic nerve damage)\n   * Cortical vision impairments affecting color perception\n   * Any other neurological or optic nerve pathology causing color vision deficiency\n2. Psychological or cognitive conditions affecting color perception or communication\n\n   * Severe developmental delays\n   * Cognitive impairments interfering with ability to comprehend or reliably perform color vision tests\n   * Psychiatric conditions that impair visual interpretation or reliable testing\n3. Prior treatment with potential transient effects on the retina\n\n   * Recent retinal surgery\n   * Recent drug therapy affecting retinal structure or function\n   * Any acute intervention that might confound the correlation analyses due to lack of a stable baseline",true,{"count":53,"type":20},200,"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.\n\nThe 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\u002Fouter segment (IS\u002FOS) 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.\n\nA 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.\n\nBy 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.",[29,56,57,58,59,60,61,62,63,64],"Color Vision Defects","Vision Disorders","Macular Degeneration","Achromatopsia","Optical Coherence Tomography (OCT)","Visual Acuity","Genotype","Mutation","Phenotype",[66,67,68,69,70,71],"observational","IRD","ultra low vision","inherited retinal disease","color vision","color test","2025-12-03",{"date":74,"type":34},"2025-12-10",{"date":76,"type":34},"2025-07-20",{"date":78,"type":20},"2027-09-28",{"name":80,"class":41},"Zhongmou Therapeutics",{"id":82,"slug":83,"hasResults":11,"nctId":84,"briefTitle":85,"officialTitle":86,"acronym":87,"eligibilityCriteria":88,"healthyVolunteers":51,"sex":16,"minAge":89,"maxAge":90,"enrollmentInfo":91,"targetDuration":4,"studyType":93,"phases":94,"briefSummary":96,"conditions":97,"keywords":98,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":102,"lastUpdatePostDateStruct":103,"startDateStruct":105,"completionDateStruct":107,"leadSponsor":109,"locationsCount":42},"100529761","ss-hh-oct-as-a-novel-diagnostic-modality-for-early-onset-retinal-dystrophies-eords-100529761","NCT06177977","SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)","Ultracompact Hand-Held Swept-Source Optical Coherence Tomography (SS-HH-OCT) as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)","SS-HH-OCT","Inclusion Criteria:\n\nFor all participants:\n\n* Participant's age is between 0 through 8 years (\\\u003C9 years)\n* Parent\u002Flegal guardian gives consents for the imaging study\n* No ocular media opacities that could preclude imaging\n* Refractive error equal or lower than 6 diopters\n\nFor EORD participants (Groups 1-2):\n\nMeets clinical and molecular diagnosis of EORD (clinical determined by PI). Molecular diagnosis criteria:\n\n* Autosomal dominant gene: One pathogenic or likely pathogenic variant that meets the clinical phenotype\n* Autosomal recessive gene: two pathogenic or likely pathogenic variants in-trans which meet the phenotype.\n* X-linked gene: one pathogenic or likely pathogenic variant which meets the phenotype.\n\nFor Controls (Group 3): No evidence of retinal pathology\n\nExclusion Criteria:\n\nFor all participants:\n\n* Parent\u002Flegal guardian unwilling or unable to provide consent\n* Refractive error higher than 6.00 diopters\n* Participant has media opacities that preclude imaging\n* Any non-IRD ocular condition that confound results interpretation such as glaucoma, uveitis, neurologic conditions affecting the optic nerve, etc.\n\nFor EORD participants (Groups 1-2): Does not meet molecular diagnosis criteria\n\nFor Controls (Group 3): Any suspicion of IRD","0 Years","8 Years",{"count":92,"type":20},80,"INTERVENTIONAL",[95],"NA","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.",[29],[99,100,101],"Retinal dystrophy","Inherited retinal dystrophy","Early onset retinal dystrophies (EORDS)","2025-10-02",{"date":104,"type":34},"2025-10-06",{"date":106,"type":34},"2024-03-01",{"date":108,"type":20},"2026-12",{"name":110,"class":111},"Duke University","OTHER",{"id":113,"slug":114,"hasResults":11,"nctId":115,"briefTitle":116,"officialTitle":117,"acronym":4,"eligibilityCriteria":118,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":119,"targetDuration":4,"studyType":93,"phases":121,"briefSummary":123,"conditions":124,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":127,"lastUpdatePostDateStruct":128,"startDateStruct":130,"completionDateStruct":132,"leadSponsor":134,"locationsCount":42},"100540671","phase-1-the-effects-of-disulfiram-antabuse-on-visual-acuity-in-patients-with-retinal-degeneration-100540671","NCT06319872","The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration","The Effects of Disulfiram on Visual Acuity in Patients With Retinal Degeneration","Inclusion Criteria:\n\n* All sexes, 18 years and older.\n* Participants must speak English, understand, and sign the informed consent document.\n* Stated willingness to comply with all study procedures and availability for the duration of the study.\n* In good general health as evidenced by medical history and with a clinical diagnosis of inherited retinal dystrophy or dry-AMD.\n* Best Corrected Visual Acuity (BCVA) of 20\u002F20 (with constriction or other defects of Goldmann visual field) to Light Perception in the better eye.\n* Intact inner nuclear layer, inner plexiform, and ganglion cell layer on macular SD-OCT.\n* Ability to take oral medication and be willing to adhere to the disulfiram regimen.\n* Patients must have the diagnosis of alcohol use disorder provided by an addiction specialist and be a candidate for therapeutic use of disulfiram for that condition.\n* Patients must agree to refrain from all alcohol consumption for 180 days.\n* Any female participant of childbearing potential must have a negative urine pregnancy test at screening.\n* Any female participant of childbearing potential must have (or have a partner who has) had a surgical sterilization (vasectomy, hysterectomy, or tubal ligation), be completely abstinent from intercourse or must agree to practice two acceptable methods of contraception throughout the course of the study and for at least one week after disulfiram discontinuation. Acceptable methods of contraception include hormonal contraception (i.e., birth control pills, injected hormones, dermal patch, or vaginal ring); intrauterine device; barrier methods (diaphragm, condom) with spermicide.\n\nExclusion Criteria:\n\n* A condition that, in the opinion of the investigator, would preclude participation in the study, e.g., cardiovascular disease, hepatitis.\n* Individuals with a history of diabetes mellitus.\n* Individuals with a history of psychosis.\n* Individuals with hypothyroidism.\n* Individuals with hypersensitivity to thiuram derivatives causing rubber contact dermatitis.\n* Those on anticoagulant therapy or other medications that may be affected by disulfiram.\n* Ophthalmic conditions with independent effect upon visual function (e.g. diabetic retinopathy, glaucoma, cataract, vitreous hemorrhage, retinal detachment, active intraocular inflammation or active infectious ocular diseases, choroidal neovascularization).\n* Patients with No Light Perception (NLP) in both eyes.\n* History of major ocular surgery within the prior 6 months or major ocular surgery anticipated within the next 6 months following randomization.\n* Exam evidence of severe external ocular infection, including conjunctivitis, chalazion, or substantial blepharitis\n* Participation in an investigational trial that involves treatment with any drug within 30 days of randomization that has not received regulatory approval at the time of study entry. Note: study participants cannot receive another investigational drug while participating in this study.\n* Known allergy or hypersensitivity to any component of the study drug.\n* For women of child-bearing potential: pregnant or lactating or intending to become pregnant within the next 12 months.\n* Participants who expect to move out of the area of the clinical center during the 8 months of the study",{"count":120,"type":20},15,[122],"PHASE1","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.",[125,29,126,24,26],"Alcohol Use Disorder","Age-Related Macular Degeneration","2025-09-23",{"date":129,"type":34},"2025-09-29",{"date":131,"type":34},"2025-05-19",{"date":133,"type":20},"2029-05-19",{"name":135,"class":111},"University of Rochester",{"id":137,"slug":138,"hasResults":11,"nctId":139,"briefTitle":140,"officialTitle":141,"acronym":4,"eligibilityCriteria":142,"healthyVolunteers":51,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":143,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":145,"conditions":146,"keywords":147,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":153,"lastUpdatePostDateStruct":154,"startDateStruct":156,"completionDateStruct":158,"leadSponsor":159,"locationsCount":161},"100461924","eyeconic-qualification-for-cone-optogenetics-100461924","NCT05294978","EyeConic: Qualification for Cone-Optogenetics","Qualification for Cone-Optogenetics (EyeConic)","Inclusion Criteria (patients):\n\n* Diagnosis of generalized IRD\n* Low vision as defined as visual acuity worse or equal to 0.05 (or 20\u002F400) in the study eye\n* Availability of macular optical coherence tomography (OCT)\n\nInclusion Criteria (controls):\n\n* Normal ophthalmic findings\n* Availability of macular optical coherence tomography (OCT)\n\nExclusion Criteria (all):\n\n* Other eye diseases with a significant effect on vision or retinal structure\n* Extraocular disease affecting retinal structure such as neurodegenerative diseases",{"count":144,"type":20},1000,"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.",[29],[148,149,150,151,152],"Cone-Optogenetics","Rod-cone Dystrophy","Cone-rod Dystrophy","Generalized retinal dystrophies","Inherited retinal disease","2025-07-28",{"date":155,"type":34},"2025-07-31",{"date":157,"type":34},"2021-07-01",{"date":108,"type":20},{"name":160,"class":111},"Institute of Molecular and Clinical Ophthalmology Basel",9,{"id":163,"slug":164,"hasResults":11,"nctId":165,"briefTitle":166,"officialTitle":167,"acronym":4,"eligibilityCriteria":168,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":169,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":171,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":175,"lastUpdatePostDateStruct":176,"startDateStruct":178,"completionDateStruct":180,"leadSponsor":182,"locationsCount":42},"100544926","observational-study-to-assess-endpoint-operational-feasibility--measurement-properties-in-patients-with-retinal-degeneration-100544926","NCT06375239","Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration","Observational, Non-Interventional Study to Determine the Operational Feasibility and Measurement Properties of Endpoints in Patients with Retinal Degeneration","Inclusion Criteria:\n\n* Diagnosis of bilateral retinitis pigmentosa, choroideremia, Stargardt macular dystrophy, geographic atrophy from age-related macular degeneration, X-linked retinoschisis or other retinal dystrophies confirmed from previous eye examination records\n* Best-corrected visual acuity between 20\u002F70 and HM in at least one eye as tested with clinic-based visual acuity method\n* Reasonably fluent in English\n\nExclusion Criteria:\n\n* Cognitive impairment, memory loss or dementia sufficient in severity to preclude informed consent or in the opinion of the investigator would prevent satisfactory completion of some or all of the testing.\n* Any circumstance that in the opinion of the investigator, would interfere with participation in, or compliance with the study protocol\n* Current pregnancy as reported by patient",{"count":170,"type":20},120,[24,172,25,26,173,174,29],"Choroideremia","Geographic Atrophy from Age-related Macular Degeneration","X-lined Retinoschisis","2025-01-06",{"date":177,"type":34},"2025-01-08",{"date":179,"type":34},"2024-04-05",{"date":181,"type":20},"2026-04-30",{"name":40,"class":41},{"id":184,"slug":185,"hasResults":11,"nctId":186,"briefTitle":187,"officialTitle":188,"acronym":4,"eligibilityCriteria":189,"healthyVolunteers":51,"sex":16,"minAge":17,"maxAge":190,"enrollmentInfo":191,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":192,"conditions":193,"keywords":195,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":197,"lastUpdatePostDateStruct":198,"startDateStruct":200,"completionDateStruct":202,"leadSponsor":204,"locationsCount":42},"100210287","evaluation-of-objective-perimetry-using-chromatic-multifocal-pupillometer-100210287","NCT02014389","Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer","Objective Perimetry in Normal Subjects,Glaucoma Patients and Retinal Dystrophy Patients","Inclusion Criteria:\n\n* Age 18-80 years old.\n* Signing informed consent.\n* Pupillary reflex to light.\n\nExclusion Criteria:\n\n1. Cloudy corneas.\n2. Surgical intraocular ophthalmic procedure within the past 30 days.\n3. No reactive pupils.\n4. Synechia of the iris to the lens after surgery or inflammation.\n5. Neovascularization.\n6. Axenfeld-Rieger Syndrome.\n7. Iris atrophy (ICE syndrome).\n8. Iris coloboma.\n9. Sphincter damage due to ischemia.\n10. Sphincter damage due to trauma (tears of sphincter or diffuse damage to muscle).\n11. Sphincter damage due to Herpes Zoster Uveitis.\n12. Sphincter damage due to high intraocular pressure.\n13. Iris tumor or cyst.\n14. Ectropion uvae.\n15. Adie's pupil.\n16. Third nerve aberrant regeneration of the iris sphincter.\n17. RP patients with Optic neuropathy with the potential of producing a positive RAPD (Relative Afferent Pupillary Defect).\n18. Chronic use of myotics or mydriatics.\n19. Systemic medication that have affect on pupillary reflex .\n20. Any condition preventing accurate measurement or examination of the pupil.","80 Years",{"count":53,"type":20},"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.",[29,24,194],"Glaucoma",[29,24,194,196],"Visual Field","2024-04-24",{"date":199,"type":34},"2024-04-25",{"date":201,"type":34},"2013-12-01",{"date":203,"type":20},"2026-12-31",{"name":205,"class":206},"Sheba Medical Center","OTHER_GOV"]