[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"inherited-retinal-degeneration\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:inherited-retinal-degeneration":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,40],{"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":26,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":29,"startDateStruct":32,"completionDateStruct":34,"leadSponsor":36,"locationsCount":39},"100484566","universal-rare-gene-study-a-registry-and-natural-history-study-of-retinal-dystrophies-associated-with-rare-disease-causing-genetic-variants-100484566",false,"NCT05589714","Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants","Uni-Rare","Inclusion Criteria: Participants must meet all the following inclusion criteria at the Registry\u002FScreening Visit to be eligible to enroll into the genetic screening phase:\n\n1. Willing to participate in the study and able to communicate consent during the consent process\n2. Willing and able to complete all applicable Registry\u002FScreening Visit assessments\n3. Age ≥ 4 years\n4. Must have a single gene on the RD Rare Gene List which meets one of the Genetic Screening Criteria below based on a genetic report\\* from a clinically certified lab (or from a research lab which has been approved by the study Genetics Committee):\n\nInheritance Pattern is Recessive and has at least 2 disease-causing variants which are homozygous or heterozygous in trans\n\nOR\n\nInheritance Pattern is Recessive and has 2 disease-causing variants with unknown phase and meets all the following additional informatic criteria that is consistent with likely segregation in trans:\n\n1. Investigator confirms genotype and phenotype are consistent with autosomal recessive inheritance\n2. The 2 disease-causing variants have not been reported in cis in variant databases\n3. No additional potentially pathogenic variants were found on the gene (and the sequencing data for the gene were sufficiently robust to detect any additional potentially pathogenic variants)\n4. No potentially pathogenic variants were found in other common, likely candidate genes for the proposed condition\n\nOR\n\nInheritance Pattern is Dominant, X-linked, or Mitochondrial and has at least 1 disease-causing variant\n\nBoth eyes must meet the following criteria at the Registry\u002FScreening Visit to enroll into the genetic screening phase:\n\n1. Both eyes must have a clinical diagnosis of retinal dystrophy\n2. Both eyes must permit good quality photographic imaging (e.g., but not limited to, clear ocular media, adequate pupil dilation, stable fixation)\n\nExclusion Criteria:\n\nParticipants must not meet any of the following exclusion criteria at the Registry\u002FScreening Visit to be eligible to enroll into the genetic screening phase:\n\n1\\. History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy including amiodarone, chloroquine, deferoxamine, hydroxychloroquine, pentosan polysulfate, tamoxifen, and deferoxamine Note: Since this is an observational study, pregnant women will not be specifically excluded from participation. However, minors that are pregnant shall be precluded from participation until they become the age of majority.\n\nOcular Exclusion Criteria:\n\nIf either eye has any of the following ocular exclusion criteria at the Registry\u002FScreening Visit, then the participant is not eligible to enroll into the genetic screening phase:\n\n1. Current vitreous hemorrhage\n2. Current complications of pathological myopia (for example, but not limited to, myopic maculopathy including atrophy, scar, choroidal neovascularization, schisis) that could inhibit ability to obtain good quality photographic imaging\n3. History of intraocular surgery (for example, but not limited to, cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within 3 months of Registry\u002FScreening Visit\n4. Current or any history of confirmed diagnosis of glaucoma (for example, but not limited to, glaucomatous VF changes or nerve changes, or history of glaucoma filtering surgery)\n5. Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy\n6. History or current evidence of ocular disease that, in the opinion of the Investigator, may confound assessment of visual function (for example, but not limited to, tractional or rhegmatogenous retinal detachment, any vitreoretinal surgery, retinal vascular occlusion, proliferative diabetic retinopathy)\n7. The following medications and treatments are prohibited as they can affect progression of retinitis pigmentosa (RP). The participant must not have received the following treatments:\n\n   Any use of ocular stem cell or gene therapy Any treatment with ocriplasmin Treatment with Ozurdex (dexamethasone), Iluvien, or Yutiq (fluocinolone acetonide) intravitreal implant\n8. The following medications and treatments are excluded within the specified timeframe:\n\nTreatment with an ophthalmic oligonucleotide within the last 9 months (last treatment date is less than 9 months prior to Registry\u002FScreening Visit date)\n\nTreatment with any other product within five times the expected half-life of the product (time from last treatment date to Registry\u002FScreening Visit date is at least 5 times the half-life of the given product)","ALL","4 Years",{"count":19,"type":20},1500,"ESTIMATED","OBSERVATIONAL","This is an international, multicenter study with two components:\n\nRegistry\n\n* A standardized genetic screening and a prospective, standardized, cross-sectional clinical data collection\n* Enrollment is open to all genes on the RD Rare Gene List\n\nNatural History Study\n\n* A prospective, standardized, longitudinal Natural History Study\n* Enrollment opens gene-by-gene, based on funding and within-gene Registry enrollment The study objectives are as follows.\n\nRegistry Objectives\n\n1. Genotype Characterization\n2. Cross-Sectional Phenotype Characterization (within gene)\n3. Establish a Link to My Retina Tracker Registry (MRTR)\n4. Ancillary Exploratory Studies - Pooling of Genes\n\nNatural History Study Objectives\n\n1. Natural History (within gene)\n2. Structure-Function Relationship (within gene)\n3. Risk Factors for Progression (within gene)\n4. Ancillary Exploratory Studies - Pooling of Genes",[24,25],"Inherited Retinal Degeneration","Retinitis Pigmentosa",[24],"RECRUITING","2026-06-24",{"date":30,"type":31},"2026-06-26","ACTUAL",{"date":33,"type":31},"2023-05-11",{"date":35,"type":20},"2030-12-15",{"name":37,"class":38},"Jaeb Center for Health Research","OTHER",36,{"id":41,"slug":42,"hasResults":11,"nctId":43,"briefTitle":44,"officialTitle":45,"acronym":46,"eligibilityCriteria":47,"healthyVolunteers":11,"sex":16,"minAge":48,"maxAge":4,"enrollmentInfo":49,"targetDuration":4,"studyType":51,"phases":52,"briefSummary":54,"conditions":55,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":58,"lastUpdatePostDateStruct":59,"startDateStruct":61,"completionDateStruct":63,"leadSponsor":65,"locationsCount":68},"100613437","restoration-of-central-vision-with-prima-in-patients-with-photoreceptor-degeneration-100613437","NCT07266584","Restoration of Central Vision With PRIMA in Patients With Photoreceptor Degeneration","Restoration of Central Vision With the PRIMA Products in Patients With Photoreceptor Degeneration","PRIMAlia","Inclusion Criteria:\n\n1. Is 18 years or older at the date of inclusion;\n2. Has a confirmed diagnosis of inherited retinal degeneration with the macula affected in both eyes;\n3. The study eye has best corrected visual acuity of logMAR 1.2 (20\u002F320) or worse as measured by ETDRS test;\n4. Has an atrophic patch in the study eye including the fovea of at least the implant size (\\>4.5 mm2 and \\>2.4 mm in minimum diameter);\n5. Understands the constraints of the study and accepts to present for all scheduled follow-up visits;\n6. Signed the informed consent.\n\nExclusion Criteria:\n\n1. 1\\. Has cataract in the study eye (with LOCS III scale NO, NC, C or P\\>1); (these patients will need to have cataract surgery performed prior to completion of baseline testing; all other patients will get IOL replacement during the PRIMA Stim implantation);\n2. Underwent intraocular lens implantation in the study eye within the last month prior to enrolment (this corresponds to 4 weeks or 28 days) ;\n3. Has an implanted IOL in the study eye and a refraction of the study eye outside of -4D; +4D limit (this criterion is not relevant for phakic eyes)\n4. Has a highly myopic study eye (\\>26 mm AP);\n5. Has no light perception in either eye;\n6. Has a history of documented choroidal neovascularization in either eye;\n7. Has any signs of exudative AMD including exudative AMD with detachment of retinal pigment epithelium in the central visual field of the study eye;\n8. Has an implanted telescope in one eye;\n9. Has a black IOL in the study eye;\n10. Has any disease (other than study allowed diseases) or condition that affects retinal function of the study eye or the visual system (e.g., central retinal artery\u002Fvein occlusion, end-stage diabetic retinopathy, Proliferative Diabetic Retinopathy (PDR), diabetic macular oedema (DME), severe Non-Proliferative Diabetic Retinopathy (NPDR), retinal detachment, infectious or inflammatory retinal disease, severe glaucoma, optic neuropathy, etc.) ;\n11. Has any disease or condition that prevents adequate examination (including Optical Coherence Tomography (OCT)) of the study eye including but not limited to media opacities that cannot be resolved prior to implantation. Note, that this criterion is also important for the function of the implant;\n12. Has a corneal endothelial cell count of less than 1000 cells\u002Fmm² in the study eye;\n13. Suffers from nystagmus or other ocular motility disorders;\n14. Has any disease or condition that precludes the understanding or communication of the informed consent, study requirements or test protocols (e.g., deafness, severe multiple sclerosis, amyotrophic lateral sclerosis, severe neuritis, etc.);\n15. Has uncontrolled epileptic seizures;\n16. Has a known sensitivity to the contact materials of the implant (iridium oxide, silicon-carbide and titanium);\n17. Has a known allergy to anaesthetic drugs;\n18. Presents with hypotonia in the study eye (\\\u003C8 mmHg);\n19. Presents with hypertonia in the study eye (\\>23 mmHg with treatment);\n20. Has active cancer or a history of intraocular, optic nerve or brain cancer and metastasis;\n21. Is an immune-suppressed participant (e.g., due to HIV positive diagnosis, etc.);\n22. Is a known carrier of multi-resistant microorganisms;\n23. Is receiving anticoagulation therapy that cannot be adapted to allow eye surgery;\n24. Is participating in another investigational drug or device study that may interfere with the PRIMAlia study;\n25. Has a history of chronic or recurrent infection or inflammation that would preclude participation in the study;\n26. Has significant recurrent or chronic inflammations or infections. Specifically, patients with the following disorders are excluded:\n\n    * Severe chronic and consuming diseases that frequently associated with infection (e.g. Crohn disease, Whipple's disease);\n    * Active inflammation in the area of the eye (e.g. herpes of cornea and\u002For conjunctiva, recurrent blepharoconjunctivitis, hordeolum, chalazion);\n27. Has a severe psychological disorder;\n28. Does not have the mental capacity to legally sign the informed consent;\n29. Has severe renal, cardiac, hepatic, etc. organ diseases (ASA IV or worse);\n30. Has head dimensions that are incompatible with the PRIMA Companion glasses;\n31. Has too high and\u002For unrealistic expectations (e.g., believes that a benefit is guaranteed or expects normal vision after surgery).\n32. Physical constraints making use of PRIMA or rehabilitation impossible\n33. Participant who, in the opinion of the investigator, is not suitable for participation in the study","18 Years",{"count":50,"type":20},5,"INTERVENTIONAL",[53],"NA","The objective of this study is to evaluate the efficacy and safety of the PRIMA Products in participants with inherited retinal degeneration affecting the macula (including but not limited to Stargardt disease, and Retinitis Pigmentosa).\n\nEligible participants will be implanted with the PRIMA Stim implant. The participants will be assessed with various visual function and functional vision tests at defined timepoints throughout the clinical investigation with the PRIMA Products. The purpose of this study is to gather enough clinical data to support the clinical evaluation required for the continuous development to improve the PRIMA Products.",[56,57,24],"Stargardt Disease","Retinitis Pigmentosa (RP)","2026-03-27",{"date":60,"type":31},"2026-04-02",{"date":62,"type":20},"2026-03-12",{"date":64,"type":20},"2031-03-01",{"name":66,"class":67},"Science Corporation","INDUSTRY",1]