[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"eye-diseases-hereditary\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:eye-diseases-hereditary":33},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,60,98],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":37,"overallStatus":47,"whyStopped":4,"lastUpdateSubmitDate":48,"lastUpdatePostDateStruct":49,"startDateStruct":52,"completionDateStruct":54,"leadSponsor":56,"locationsCount":59},"100584599","phase-3-study-to-evaluate-sepofarsen-in-subjects-with-leber-congenital-amaurosis-lca-type-10-hyperion-100584599",false,"NCT06891443","Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)","A Double-Masked, Randomized, Placebo-Controlled, Paired-Eye Study to Evaluate the Efficacy, Safety and Tolerability of Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Due to the c.2991+1655A>G (p.Cys998X) Mutation in the CEP290 Gene","HYPERION","Inclusion Criteria:\n\n1. Confirmed clinical diagnosis of LCA10 and a molecular diagnosis of homozygosity or compound heterozygosity for the c.2991+1655A\\>G mutation in CEP290.\n2. Adults: \\>=18 years \u002F Minors: 6 to \\\u003C18 years.\n3. BCVA (FrACT) equal to or worse than logMAR +0.4 (approximate Snellen equivalent 20\u002F50) to +2.9 logMAR based on quantifiable, reliable FrACT. LP subjects with documented evidence of prior better vision eligible.\n4. Symmetrical disease between the two eyes as defined by a BCVA (FrACT) within 0.2 logMAR at baseline.\n5. Detectable ONL in the macular area as determined by the CRC at Screening.\n\nExclusion Criteria:\n\n1. Mutations in genes other than the CEP290 gene associated with other IRD diseases or syndromes.\n2. Presence of any ocular pathology in either eye that may make comparison of the eyes not feasible.\n3. Presence of unstable concurrent CME, or subject started on (or changed dose of) topical or systemic carbonic anhydrase inhibitor treatment in the 3 months prior to enrollment. CME is allowed if stable for 3 months (with or without treatment).\n4. Presence of any clinically significant lens opacities\u002Fcataracts based on the AREDS lens grading scale.\n5. Any prior receipt of genetic (RNA or DNA therapy) or stem-cell therapy for ocular or non-ocular disease, including sepofarsen.","ALL","6 Years",{"count":20,"type":21},32,"ESTIMATED","INTERVENTIONAL",[24],"PHASE3","The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A\\>G (p.Cys998X) mutation in the CEP290.",[27,28,29,30,31,32,33,34,35,36],"Leber Congenital Amaurosis 10","Blindness","Leber Congenital Amaurosis","Sensation Disorders","Vision Disorder","Neurological Manifestations","Eye Diseases, Hereditary","Eye Diseases","Eye Disorders Congenital","Retinal Disease",[38,39,40,41,42,43,44,45,46],"LCA10","p.Cys998X","Antisense oligonucleotides","RNA therapy","QR-110","sepofarsen","CEP290","Leber's Congenital Amaurosis","c.2991+1655A>G","RECRUITING","2026-06-24",{"date":50,"type":51},"2026-06-25","ACTUAL",{"date":53,"type":51},"2025-06-04",{"date":55,"type":21},"2028-10",{"name":57,"class":58},"Laboratoires Thea","INDUSTRY",17,{"id":61,"slug":62,"hasResults":11,"nctId":63,"briefTitle":64,"officialTitle":65,"acronym":66,"eligibilityCriteria":67,"healthyVolunteers":11,"sex":17,"minAge":68,"maxAge":4,"enrollmentInfo":69,"targetDuration":4,"studyType":22,"phases":71,"briefSummary":73,"conditions":74,"keywords":79,"overallStatus":47,"whyStopped":4,"lastUpdateSubmitDate":89,"lastUpdatePostDateStruct":90,"startDateStruct":92,"completionDateStruct":94,"leadSponsor":96,"locationsCount":97},"100564284","phase-2-study-to-evaluate-ultevursen-in-subjects-with-retinitis-pigmentosa-rp-due-to-mutations-in-exon-13-of-the-ush2a-gene-100564284","NCT06627179","Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene","A Two-Year Double-masked, Randomized, Sham-Controlled Study to Evaluate the Efficacy, Safety and Tolerability of Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene","LUNA","Inclusion Criteria:\n\n1. An adult (≥18 years) willing and able to provide informed consent for participation prior to performing any study related procedures\n2. OR A minor (8 to \\\u003C18 years) able to provide age-appropriate assent for study participation with a parent or legal guardian willing and able to provide written permission for the subject's participation prior to performing any study related procedures. An adult willing to comply with the protocol, follow study instructions, attend study visits as required and willing and able to complete all study assessments, in the opinion of the Investigator.\n\n   OR A minor able to complete all study assessments and comply with the protocol and has a parent or caregiver willing and able to follow study instructions and attend study visits with the subject as required, in the opinion of the Investigator.\n3. Both eyes exhibit clinical presentation consistent with RP involving Usher syndrome type 2 or NSRP based on ophthalmic, audiologic, or vestibular examinations. At screening, the Investigator will make the clinical diagnosis of \"Usher syndrome type 2a,\" defined as RP with congenital hearing loss, or \"non-syndromic RP,\" defined as RP without congenital hearing loss.\n4. A molecular diagnosis of biallelic disease causing variants (pathogenic or likely pathogenic) in the USH2A gene where at least one of the variants is located on exon 13. A historic genotyping report from a certified laboratory is acceptable with Sponsor approval.\n5. Clearly visible and measurable SD-OCT horizontal EZ width of ≥2.2 mm in both eyes based on the assessment of the CRC.\n6. BCVA ≥55 letters based on ETDRS (equivalent to 20\u002F80 based on Snellen notation, or logarithm of the minimum angle of resolution \\[logMAR\\] +0.6) in both eyes.\n7. Impairment of VF as assessed by SP with a mean sensitivity greater than 4 decibels (dB) and less than 25 dB measured by a V target size in the TE at screening.\n8. Mean sensitivity greater than 2 dB as determined by MP in the TE at screening.\n9. Symmetry of baseline disease in both eyes, defined as the mean BCVA (based on ETDRS) of one eye within ≤10 letters of the mean BCVA of the other eye at screening.\n\nExclusion Criteria:\n\n1. Presence of additional non-exon 13 USH2A pathogenic or likely pathogenic variant on the USH2A allele carrying the exon 13 mutation in subjects who have one exon 13 disease causing variant and one non-exon 13 disease causing variant.\n2. Presence of additional non-exon 13 USH2A pathogenic mutation(s) on both USH2A alleles in subjects who have biallelic exon 13 mutations.\n3. Presence of pathogenic or likely pathogenic variants in genes (other than the USH2A gene) which are known to be associated with other inherited retinal degenerative diseases or syndromes. Specifically, the presence of homozygous or compound heterozygous known disease-causing mutations in other genes involved in recessive retinal dystrophies, or the confirmed presence of a known single disease-causing variant in genes involved in dominant, X-linked, or mitochondrial retinal dystrophy genes is exclusionary.\n4. At screening, the EZ horizontal or vertical width are outside the field of the SD-OCT scan based on the assessment of the CRC.\n5. Presence of any significant ocular or non-ocular disease\u002Fdisorder (including medication and laboratory test abnormalities) which, in the opinion of the Investigator may either put the subject at risk because of participation in the study, may impact the subject's ability to participate in the study, or may interfere with assessment of efficacy and safety in the study.\n6. Presence of unstable concurrent cystoid macular edema (CME), or subject started on (or changed dose of) any medication for CME in the 3 months prior to enrollment. CME is allowed if stable for 3 months (with or without treatment). However, stable CME that disrupts the EZ width measurement, as determined by CRC, is an exclusion.\n7. Any intraocular surgery within 3 months of study entry or any planned intraocular or peri-ocular surgery during the study. Subjects may be eligible after 3 months post-surgery as long as they have fully recovered, in the opinion of the Investigator.\n8. Receipt of any IVT injection prior to study entry.","8 Years",{"count":70,"type":21},81,[72],"PHASE2","The purpose of this Phase 2b study is to evaluate the safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene. This is a multicenter Double-masked, Randomized, Sham-controlled study which will enroll 81 subjects.",[75,76,77,36,33,35,78],"Retinitis Pigmentosa (RP)","Usher Syndrome Type 2","Deaf Blind","Vision Disorders",[80,76,77,81,82,83,84,85,86,66,87,88],"Retinitis Pigmentosa","USH2A","RP","Exon 13","RNA therapies","antisense oligonucleotide","exon skipping","IVT","NSRP","2026-06-16",{"date":91,"type":51},"2026-06-18",{"date":93,"type":51},"2024-12-11",{"date":95,"type":21},"2027-12",{"name":57,"class":58},28,{"id":99,"slug":100,"hasResults":11,"nctId":101,"briefTitle":102,"officialTitle":103,"acronym":104,"eligibilityCriteria":105,"healthyVolunteers":106,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":107,"targetDuration":109,"studyType":110,"phases":4,"briefSummary":111,"conditions":112,"keywords":138,"overallStatus":47,"whyStopped":4,"lastUpdateSubmitDate":167,"lastUpdatePostDateStruct":168,"startDateStruct":170,"completionDateStruct":172,"leadSponsor":174,"locationsCount":177},"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":108,"type":21},20000,"20 Years","OBSERVATIONAL","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.",[113,36,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,29,130,80,131,132,133,134,135,136,137],"Eye Diseases Hereditary","Achromatopsia","Bardet-Biedl Syndrome","Bassen-Kornzweig Syndrome","Batten Disease","Best 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","Refsum Syndrome","Retinitis Punctata Albescens","Retinoschisis","Rod-Cone Dystrophy","Rod Dystrophy","Rod Monochromacy","Stargardt Disease","Usher Syndrome",[139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165,166],"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":169,"type":51},"2026-05-19",{"date":171,"type":4},"2014-06",{"date":173,"type":21},"2037-06",{"name":175,"class":176},"Foundation Fighting Blindness","OTHER",1]