[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"best-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:best-disease":29},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,49,130],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":32,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100553863","national-ophthalmic-genotyping-and-phenotyping-network-eyegene-registered-trademark-stage-3---expansion-of-dna-and-data-repositories-for-rare-inherited-ophthalmic-diseases-100553863",false,"NCT06491615","National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases","National Ophthalmic Genotyping and Phenotyping Network, Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\nThe participant must present with characteristics consistent with one of the following diagnoses:\n\n* Aniridia\n* Best disease\n* Blue-cone monochromacy\n* Corneal dystrophy\n* Other hypopigmentation disorder affecting vision (e.g., Oculocutaneous and ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome)\n\nOR\n\nThe participant must be a direct, close relative of an affected participant.\n\nOR\n\nA participant who also participated in the eyeGENE Stage 1 protocol who may benefit from further genetic testing.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Those with impaired decision-making capability who do not have a legally-authorized representative.\n* Those unable to provide a saliva sample OR have any disease or condition that makes it unsafe for a subject to provide a suitable blood sample of at least 5 mL to yield more than 50 micrograms of DNA.\n\nAn individual who meets any of the following criteria will be excluded from participation in the optional retinal imaging:\n\n* Those with a history of epilepsy.\n* Children under the age of 18.","ALL","1 Day","120 Years",{"count":20,"type":21},1000,"ESTIMATED","OBSERVATIONAL","Background:\n\nThe 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 variety of eye diseases. Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases. These findings helped them create better treatments. Now researchers want to expand eyeGENE (Registered Trademark) to include more people for certain eye diseases.\n\nObjective: To collect information and DNA samples for the study of eye diseases.\n\n* Primary objective\n\n  --To expand the current eyeGENE (Registered Trademark) data repository with targeted participant accrual\n* Secondary objectives\n\n  * To enhance recruitment for clinical trials and investigations in inherited eye diseases\n\n    * To establish genotype-phenotype correlations for rare eye diseases\n\nEligibility:\n\nPeople of any age with certain eye diseases. These can include aniridia; Best disease; blue-cone monochromacy; corneal dystrophy; and disorders of pigmentation, such as albinism. Relatives unaffected by the eye disease of interest may also be needed.\n\nDesign:\n\nResearchers will select participants based on their diagnosis. The data may include images and test results from eye exams.\n\nParticipants will provide a sample of saliva. They will receive a kit with written instructions. They will spit in a tube and mail it to the NIH.\n\nParticipants may be asked to provide a blood sample. The blood may be drawn at the NIH or at a local clinic.\n\nThe eyeGENE (Registered Trademark) repository will offer researchers data about the participants eye conditions. The data may include pictures of their eyes, results of the genetic testing, and history of other diseases. Researchers will be able to see data such as age and gender, but they will not see names, dates of birth, or contact information.",[25,26,27,28,29,30,31],"Inherited Ophthalmic Diseases","Hypopigmentation Disorder","Corneal Dystrophy","Blue-cone Monochromacy","Best Disease","Aniridia","Albinism",[33,34,35],"eyeGENE","Genetics","Inherited","RECRUITING","2026-06-06",{"date":39,"type":40},"2026-06-09","ACTUAL",{"date":42,"type":40},"2024-07-12",{"date":44,"type":21},"2054-06-27",{"name":46,"class":47},"National Eye Institute (NEI)","NIH",2,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":54,"acronym":55,"eligibilityCriteria":56,"healthyVolunteers":57,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":58,"targetDuration":60,"studyType":22,"phases":4,"briefSummary":61,"conditions":62,"keywords":90,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":119,"lastUpdatePostDateStruct":120,"startDateStruct":122,"completionDateStruct":124,"leadSponsor":126,"locationsCount":129},"100242565","inherited-retinal-degenerative-disease-registry-100242565","NCT02435940","Inherited Retinal Degenerative Disease Registry","Foundation Fighting Blindness My Retina Tracker Registry","MRTR","Inclusion Criteria:\n\n* Diagnosed with an inherited retinal degenerative disease OR\n\nExclusion Criteria:\n\n* Glaucoma only\n* Diabetic retinopathy only\n* Non-retinal disease\n* Not heritable retinal disease",true,{"count":59,"type":21},20000,"20 Years","The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on their retinal disease and its progress; family history; genetic testing results; preventive measures; general health and interest in participation in research studies. The participants may also choose to ask their clinician to add clinical measurements and results at each clinical visit. Participants are urged to update the information regularly to create longitudinal records of their disease, from their own perspective, and their clinical progress. The overall goals of the Registry are: to better understand the diversity within the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene variants; to assist in the establishment of genotype-phenotype relationships; to help understand the natural history of the diseases; to help accelerate research and development of clinical trials for treatments; and to provide a tool to investigators that can assist with recruitment for research studies and clinical trials.",[63,64,65,66,67,68,29,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89],"Eye Diseases Hereditary","Retinal Disease","Achromatopsia","Bardet-Biedl Syndrome","Bassen-Kornzweig Syndrome","Batten Disease","Choroidal Dystrophy","Choroideremia","Cone Dystrophy","Cone-Rod Dystrophy","Congenital Stationary Night Blindness","Enhanced S-Cone Syndrome","Fundus Albipunctatus","Goldmann-Favre Syndrome","Gyrate Atrophy","Juvenile Macular Degeneration","Kearns-Sayre Syndrome","Leber Congenital Amaurosis","Refsum Syndrome","Retinitis Pigmentosa","Retinitis Punctata Albescens","Retinoschisis","Rod-Cone Dystrophy","Rod Dystrophy","Rod Monochromacy","Stargardt Disease","Usher Syndrome",[91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118],"inherited retinal degenerative disease","retinitis pigmentosa","Usher","Leber","Bardet-Biedl","Batten","Best","cone dystrophy","cone-rod dystrophy","choroideremia","congenital night blindness","enhanced s-cone","cone monochromacy","Goldmann-Favre","Kearns-Sayre","Refsum","retinoschisis","rod-cone dystrophy","rod dystrophy","rod monochromacy","Sorsby pseudoinflammatory dystrophy","stargardt","achromatopsia","juvenile inherited macular degeneration","cone dichromacy","cone trichromacy","Charcot-Marie-Tooth","albipunctate dystrophy","2026-05-18",{"date":121,"type":40},"2026-05-19",{"date":123,"type":4},"2014-06",{"date":125,"type":21},"2037-06",{"name":127,"class":128},"Foundation Fighting Blindness","OTHER",1,{"id":131,"slug":132,"hasResults":11,"nctId":133,"briefTitle":134,"officialTitle":135,"acronym":136,"eligibilityCriteria":137,"healthyVolunteers":57,"sex":16,"minAge":138,"maxAge":4,"enrollmentInfo":139,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":141,"conditions":142,"keywords":157,"overallStatus":164,"whyStopped":4,"lastUpdateSubmitDate":165,"lastUpdatePostDateStruct":166,"startDateStruct":168,"completionDateStruct":170,"leadSponsor":172,"locationsCount":4},"100615866","wide-field-octa-in-ocular-diseases-100615866","NCT07298174","Wide Field OCTA in Ocular Diseases","Wide Field OCTA in Ocular Diseases: a Prospective Observational Study of the Clinical Impact of Wide Field OCTA in Ocular Disease.","WOOD-2025","Inclusion Criteria:\n\n* Age \\> 18 years\n* Both genders\n* Confirmed diagnosis of one of the above diseases\n* Age-related macular degeneration\n* Diabetic retinopathy\n* Myopia\n* Pachychoroid spectrum disease\n* Inherited retinal dystrophy\n* Uveitis\n* Dry eye\n* Visual acuity of at least 1\u002F20\n* Signed informed consent for the participation to the trial.\n\nExclusion Criteria:\n\n* Media opacities\n* Any other eye or systemic condition that may irreversibly impair the results of the study\n* Surgery in the eye in the study, including cataract extraction, in the three months prior to recruitment","18 Years",{"count":140,"type":21},200,"The main retinal diseases, whether or not associated with specific mutations genetic, cause progressive degeneration of vascular retinal structures and not vascular, resulting in decreased visual function. Often, such diseases affect the noblest part of the retina, called macula. Many retinal diseases can be complicated by choroidal neovascularization which causes frequent bleeding and fluid leakage that accumulates in the subretinal and intraretinal spaces. Although the investigators know many details of each disease affecting the retina, very often the correct diagnostic framework can be complicated, given the presence of morphological elements common to the different pathologies. Similarly, predicting the effect of treatment and the patient's outcome is a constant challenge for the ophthalmologists. Most of the current research has been focused on the assessment of vascular alterations localized in the macula. However, growing evidence highlight the importance of peripheral vascular changes on the outcome of retinal diseases. These changes can be detected only be wide field OCT devices.\n\nOn the other hand, ocular inflammation and hyperemia represent major assessments in anterior segment disorders, such as dry eye disease. The current grading systems of ocular inflammation, redness and hyperemia are characterized by several limitations, thus making these evaluations still mainly confined to the subjective assessment performed by the ophthalmologist. However, the new generation OCT devices may include also an anterior segment module which can reconstruct anterior segment vessels, non-invasively, using the same technology described for retinal diseases.\n\nThe main goal of the study is to evaluate the diagnostic contribution of a new generation wide field OCTA device in ocular diseases, which has recently received CE marking. In particular, the investigators will evaluate this new generation device both in retinal and anterior segments diseases, testing for common points and differences with the standard of care non-invasive diagnostic devices. Secondary outcomes include the assessment of the correlation between the patient's visual function (visual acuity) and morphological changes (standard of care imaging assessment) highlighted by the wide field OCT device, with particular attention to microstructural differences between major ocular diseases and the possible development of non-invasive biomarkers, useful for the diagnosis and follow-up of such pathologies.",[143,144,145,146,147,88,148,29,149,150,151,152,153,154,155,156],"Age - Related Macular Degeneration (AMD)","Diabetic Macular Edema","Diabetic Retinopathy","Myopia","Inherited Retinal Disease","Retinitis Pigmentosa (RP)","Geographic Atrophy","Macular Neovascularisation","Ocular Surface Disease","Central Serous Choroidopathy","Pachychoroid Disease","Uveitis","Vitreoretinal Disease","Retinal Vein Occlusion",[158,159,160,161,162,163],"wide-field octa","multimodal retinal imaging","quantitative imaging","retinal disease","macular disease","ocular surface disease","NOT_YET_RECRUITING","2025-12-22",{"date":167,"type":40},"2025-12-30",{"date":169,"type":21},"2026-01",{"date":171,"type":21},"2028-05",{"name":173,"class":128},"IRCCS San Raffaele"]