[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"leber-congenital-amaurosis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:leber-congenital-amaurosis":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,49,94,175,580],{"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":26,"conditions":27,"keywords":31,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100645341","phase-1-phase-1b2a-dose-exploration-study-to-determine-safety-and-tolerability-of-subretinal-opgx-rdh12-1001-for-lca5-associated-inherited-retinal-degeneration-lca5-ird-100645341",false,"NCT07681778","Phase 1b\u002F2a Dose Exploration Study to Determine Safety and Tolerability of Subretinal OPGx-RDH12-1001 for LCA5-Associated Inherited Retinal Degeneration (LCA5-IRD)","A Phase 1b\u002F2a Open-Label, Dose-Exploration Study to Investigate the Safety and Tolerability of Subretinally Injected OPGx-RDH12 Administered in Participants With Leber Congenital Amaurosis With Autosomal-Recessive Retinol Dehydrogenase 12 Mutations","RDH12","Inclusion Criteria:\n\n* Age ≥18 years (adult participants) or 12-17 years (adolescent participants) at the time of consent\u002Fassent.\n* Provide written informed consent and\u002For assent prior to any study procedures.\n* Willing to adhere to the clinical protocol and follow directions of the Investigator regarding post-surgery restrictions.\n* Are a good candidate for surgery, per the Investigator's judgment.\n* Have LCA with autosomal-recessive RDH12 mutation(s), confirmed by a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory. Historic testing, up to 15 years prior to date of consent, may be considered.\n* Clinical diagnosis of LCA with RDH12 mutation(s), in the judgment of the Investigator.\n* BCVA 20\u002F200 (1.0 logarithm of the minimum angle of resolution \\[logMAR\\]) or worse for the sentinel adult in each cohort; BCVA 20\u002F40 (0.5 logMAR) or worse for all subsequent participants in each cohort.\n\nExclusion Criteria:\n\n* Women of childbearing potential (WOCBP) who are pregnant, lactating, and\u002For unwilling to use effective contraception from Screening through 1 year after IMP administration.\n* Men who are unwilling to use effective contraception from Screening through 180 days after IMP administration.\n* Have an ocular infection, a pre-existing eye condition, or a complicating systemic disease that could preclude the planned surgery or any future ocular surgery. This includes individuals who are immunocompromised and\u002For on continuous systemic immunosuppressive therapy.\n* Have a past or current condition that may preclude participation in the study, interfere with outcome measure testing or test results, or otherwise make the potential participant unsuitable for the study.\n* Have previously received gene therapy of any kind.\n* In either eye, have undergone intraocular surgery within 90 days prior to planned IMP administration or have active inflammation at Screening resulting from prior ocular surgery.\n* Have used any investigational device or investigational drug within 90 days (or 5 half-lives of the drug, whichever is longer) prior to planned IMP administration or intend to participate in another drug or device study during the same period as the current study.\n* Have received or plan to receive a vaccination within 6 weeks prior to or 6 weeks after IMP administration. Note: For the influenza vaccine, the exclusionary period is shorter: 2 weeks prior to and 5 weeks after IMP administration (i.e., during steroid treatment).\n* Have received anticoagulant therapy within 2 weeks prior to planned IMP administration.\n* Currently use medications that are potentially neuroprotective\u002Fbeneficial or retinotoxic.\n* Are incapable of performing visual function testing (e.g., FST), with or without assistance, for reason other than poor vision.\n* Have any contraindication to a course of oral steroids, in the opinion of the Investigator.\n* Have a known history of hypersensitivity to constituents or excipients in the pharmaceutical formulation of the IMP.\n* Have a known or active infection of human immunodeficiency virus (HIV) or hepatitis B or C virus.\n* Have a known or active infection of herpes simplex virus with ocular manifestations.\n* Are an employee of the Sponsor or a relative of the Investigator or investigative site staff.","ALL","18 Years",{"count":20,"type":21},10,"ESTIMATED","INTERVENTIONAL",[24,25],"PHASE1","PHASE2","This study is an early-stage clinical trial (Phase 1b\u002F2a) testing a gene therapy called OPGx-RDH12 for people with Leber Congenital Amaurosis (LCA) caused by mutations in the RDH12 gene, a rare genetic eye disease that leads to severe vision loss. The treatment is delivered as a one-time injection (300 µL) into the retina (subretinal space) of the worse-seeing eye, using a method similar to approved gene therapies like Luxturna. The study is designed to evaluate safety and effectiveness at two dose levels (1E11 and 3E11 viral genomes per eye) in small groups of 5 participants. Each group begins cautiously with 2 adults (age ≥18), treated at least one month apart, followed by FDA review before allowing adolescents (ages 12-17) to participate. An independent monitoring committee (IDMC) oversees safety throughout. After 3 adolescents are treated and followed for 3 months, the committee reviews all data to decide whether to move to a higher dose. However, if the lower dose (1E11 vg\u002Feye) shows strong effectiveness in the first group, the study may expand by treating more adolescents at that same dose instead of increasing it further.",[28,29,30],"Leber Congenital Amaurosis","Leber Congenital Amaurosis (LCA)","LCA5",[32,33,34,28,30,35],"Gene therapy","IRD","LCA","OPGx-RDH12","NOT_YET_RECRUITING","2026-06-30",{"date":39,"type":40},"2026-07-02","ACTUAL",{"date":42,"type":21},"2026-09-01",{"date":44,"type":21},"2034-07",{"name":46,"class":47},"Opus Genetics, Inc","INDUSTRY",3,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":54,"acronym":55,"eligibilityCriteria":56,"healthyVolunteers":11,"sex":17,"minAge":57,"maxAge":4,"enrollmentInfo":58,"targetDuration":4,"studyType":22,"phases":60,"briefSummary":62,"conditions":63,"keywords":73,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":84,"lastUpdatePostDateStruct":85,"startDateStruct":87,"completionDateStruct":89,"leadSponsor":91,"locationsCount":93},"100584599","phase-3-study-to-evaluate-sepofarsen-in-subjects-with-leber-congenital-amaurosis-lca-type-10-hyperion-100584599","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.","6 Years",{"count":59,"type":21},32,[61],"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.",[64,65,28,66,67,68,69,70,71,72],"Leber Congenital Amaurosis 10","Blindness","Sensation Disorders","Vision Disorder","Neurological Manifestations","Eye Diseases, Hereditary","Eye Diseases","Eye Disorders Congenital","Retinal Disease",[74,75,76,77,78,79,80,81,82],"LCA10","p.Cys998X","Antisense oligonucleotides","RNA therapy","QR-110","sepofarsen","CEP290","Leber's Congenital Amaurosis","c.2991+1655A>G","RECRUITING","2026-06-24",{"date":86,"type":40},"2026-06-25",{"date":88,"type":40},"2025-06-04",{"date":90,"type":21},"2028-10",{"name":92,"class":47},"Laboratoires Thea",17,{"id":95,"slug":96,"hasResults":11,"nctId":97,"briefTitle":98,"officialTitle":99,"acronym":100,"eligibilityCriteria":101,"healthyVolunteers":102,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":103,"targetDuration":105,"studyType":106,"phases":4,"briefSummary":107,"conditions":108,"keywords":135,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":164,"lastUpdatePostDateStruct":165,"startDateStruct":167,"completionDateStruct":169,"leadSponsor":171,"locationsCount":174},"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":104,"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.",[109,72,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,28,126,127,128,129,130,131,132,133,134],"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 Pigmentosa","Retinitis Punctata Albescens","Retinoschisis","Rod-Cone Dystrophy","Rod Dystrophy","Rod Monochromacy","Stargardt Disease","Usher Syndrome",[136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163],"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":166,"type":40},"2026-05-19",{"date":168,"type":4},"2014-06",{"date":170,"type":21},"2037-06",{"name":172,"class":173},"Foundation Fighting Blindness","OTHER",1,{"id":176,"slug":177,"hasResults":11,"nctId":178,"briefTitle":179,"officialTitle":180,"acronym":181,"eligibilityCriteria":182,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":183,"targetDuration":184,"studyType":106,"phases":4,"briefSummary":185,"conditions":186,"keywords":528,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":570,"lastUpdatePostDateStruct":571,"startDateStruct":573,"completionDateStruct":575,"leadSponsor":577,"locationsCount":579},"100193378","rare-disease-patient-registry--natural-history-study---coordination-of-rare-diseases-at-sanford-100193378","NCT01793168","Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford","Coordination of Rare Diseases at Sanford","CoRDS","Inclusion Criteria:\n\n* Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare\u002Funcommon disease\n\nExclusion Criteria:\n\n* Diagnosis of a disease which is not rare",{"count":104,"type":21},"100 Years","CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org\u002FCoRDS to enroll.",[187,188,189,190,191,192,193,194,195,196,197,198,199,200,201,202,203,204,205,206,207,208,209,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,225,226,227,228,229,230,231,232,233,234,235,236,237,238,239,240,241,242,243,244,245,246,247,248,249,250,251,252,253,254,255,256,257,258,259,260,261,262,263,264,265,266,267,268,269,270,271,272,273,274,275,276,277,278,279,280,281,282,283,284,285,286,287,288,289,290,291,292,293,294,295,296,297,298,299,300,301,302,303,304,305,306,307,308,309,310,311,312,313,314,315,316,317,318,319,320,321,322,323,324,325,326,327,328,329,330,331,332,333,334,335,336,337,338,339,340,341,342,343,344,345,346,347,348,349,350,351,352,353,354,355,356,357,358,359,360,361,362,363,364,365,366,367,368,369,370,371,372,373,374,375,376,377,378,379,380,381,382,383,384,385,386,387,388,389,390,391,392,393,394,395,396,397,398,399,400,401,402,403,404,405,406,407,408,409,410,411,412,413,414,415,416,417,418,419,420,421,422,423,424,425,426,427,428,429,430,431,432,433,434,435,436,437,438,439,440,441,442,443,28,127,444,445,446,447,448,449,450,451,452,453,454,455,456,457,458,459,460,461,462,463,464,465,466,467,468,469,470,471,472,473,474,475,476,477,478,479,480,481,482,483,484,485,486,487,488,489,490,491,492,493,494,495,496,497,498,499,500,501,502,503,504,505,506,507,508,509,510,511,512,513,514,515,516,517,518,519,520,521,522,523,524,525,526,527],"Rare Disorders","Undiagnosed Disorders","Disorders of Unknown Prevalence","Cornelia De Lange Syndrome","Prenatal Benign Hypophosphatasia","Perinatal Lethal Hypophosphatasia","Odontohypophosphatasia","Adult Hypophosphatasia","Childhood-onset Hypophosphatasia","Infantile Hypophosphatasia","Hypophosphatasia","Kabuki Syndrome","Bohring-Opitz Syndrome","Narcolepsy Without Cataplexy","Narcolepsy-cataplexy","Hypersomnolence Disorder","Idiopathic Hypersomnia Without Long Sleep Time","Idiopathic Hypersomnia With Long Sleep Time","Idiopathic Hypersomnia","Kleine-Levin Syndrome","Kawasaki Disease","Leiomyosarcoma","Leiomyosarcoma of the Corpus Uteri","Leiomyosarcoma of the Cervix Uteri","Leiomyosarcoma of Small Intestine","Acquired Myasthenia Gravis","Addison Disease","Hyperacusis (Hyperacousis)","Juvenile Myasthenia Gravis","Transient Neonatal Myasthenia Gravis","Williams Syndrome","Lyme Disease","Myasthenia Gravis","Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)","Isolated Klippel-Feil Syndrome","Frasier Syndrome","Denys-Drash Syndrome","Beckwith-Wiedemann Syndrome","Emanuel Syndrome","Isolated Aniridia","Axenfeld-Rieger Syndrome","Aniridia-intellectual Disability Syndrome","Aniridia - Renal Agenesis - Psychomotor Retardation","Aniridia - Ptosis - Intellectual Disability - Familial Obesity","Aniridia - Cerebellar Ataxia - Intellectual Disability","Aniridia - Absent Patella","Aniridia","Peters Anomaly - Cataract","Peters Anomaly","Potocki-Shaffer Syndrome","Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11","Silver-Russell Syndrome Due to Imprinting Defect of 11p15","Silver-Russell Syndrome Due to 11p15 Microduplication","Syndromic Aniridia","WAGR Syndrome","Wolf-Hirschhorn Syndrome","4p16.3 Microduplication Syndrome","4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome","Autosomal Recessive Stickler Syndrome","Stickler Syndrome Type 2","Stickler Syndrome Type 1","Stickler Syndrome","Mucolipidosis Type 4","X-linked Spinocerebellar Ataxia Type 4","X-linked Spinocerebellar Ataxia Type 3","X-linked Intellectual Disability - Ataxia - Apraxia","X-linked Progressive Cerebellar Ataxia","X-linked Non Progressive Cerebellar Ataxia","X-linked Cerebellar Ataxia","Vitamin B12 Deficiency Ataxia","Toxic Exposure Ataxia","Unclassified Autosomal Dominant Spinocerebellar Ataxia","Thyroid Antibody Ataxia","Sporadic Adult-onset Ataxia of Unknown Etiology","Spinocerebellar Ataxia With Oculomotor Anomaly","Spinocerebellar Ataxia With Epilepsy","Spinocerebellar Ataxia With Axonal Neuropathy Type 2","Spinocerebellar Ataxia Type 8","Spinocerebellar Ataxia Type 7","Spinocerebellar Ataxia Type 6","Spinocerebellar Ataxia Type 5","Spinocerebellar Ataxia Type 4","Spinocerebellar Ataxia Type 37","Spinocerebellar Ataxia Type 36","Spinocerebellar Ataxia Type 35","Spinocerebellar Ataxia Type 34","Spinocerebellar Ataxia Type 32","Spinocerebellar Ataxia Type 31","Spinocerebellar Ataxia Type 30","Spinocerebellar Ataxia Type 3","Spinocerebellar Ataxia Type 29","Spinocerebellar Ataxia Type 28","Spinocerebellar Ataxia Type 27","Spinocerebellar Ataxia Type 26","Spinocerebellar Ataxia Type 25","Spinocerebellar Ataxia Type 23","Spinocerebellar Ataxia Type 22","Spinocerebellar Ataxia Type 21","Spinocerebellar Ataxia Type 20","Spinocerebellar Ataxia Type 2","Spinocerebellar Ataxia Type 19\u002F22","Spinocerebellar Ataxia Type 18","Spinocerebellar Ataxia Type 17","Spinocerebellar Ataxia Type 16","Spinocerebellar Ataxia Type 15\u002F16","Spinocerebellar Ataxia Type 14","Spinocerebellar Ataxia Type 13","Spinocerebellar Ataxia Type 12","Spinocerebellar Ataxia Type 11","Spinocerebellar Ataxia Type 10","Spinocerebellar Ataxia Type 1 With Axonal Neuropathy","Spinocerebellar Ataxia Type 1","Spinocerebellar Ataxia - Unknown","Spinocerebellar Ataxia - Dysmorphism","Non Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Spasticity-ataxia-gait Anomalies Syndrome","Spastic Ataxia With Congenital Miosis","Spastic Ataxia - Corneal Dystrophy","Spastic Ataxia","Rare Hereditary Ataxia","Rare Ataxia","Recessive Mitochondrial Ataxia Syndrome","Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Posterior Column Ataxia - Retinitis Pigmentosa","Post-Stroke Ataxia","Post-Head Injury Ataxia","Post Vaccination Ataxia","Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract","Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus","Non-hereditary Degenerative Ataxia","Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity","Olivopontocerebellar Atrophy - Deafness","NARP Syndrome","Myoclonus - Cerebellar Ataxia - Deafness","Multiple System Atrophy, Parkinsonian Type","Multiple System Atrophy, Cerebellar Type","Multiple System Atrophy","Maternally-inherited Leigh Syndrome","Machado-Joseph Disease Type 3","Machado-Joseph Disease Type 2","Machado-Joseph Disease Type 1","Leigh Syndrome","Late-onset Ataxia With Dementia","Infection or Post Infection Ataxia","GAD Ataxia","Hereditary Episodic Ataxia","Gliadin\u002FGluten Ataxia","Friedreich Ataxia","Fragile X-associated Tremor\u002FAtaxia Syndrome","Familial Paroxysmal Ataxia","Exposure to Medications Ataxia","Episodic Ataxia With Slurred Speech","Episodic Ataxia Unknown Type","Episodic Ataxia Type 7","Episodic Ataxia Type 6","Episodic Ataxia Type 5","Episodic Ataxia Type 4","Episodic Ataxia Type 3","Episodic Ataxia Type 1","Epilepsy and\u002For Ataxia With Myoclonus as Major Feature","Early-onset Spastic Ataxia-neuropathy Syndrome","Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity","Early-onset Cerebellar Ataxia With Retained Tendon Reflexes","Early-onset Ataxia With Dementia","Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia","Dilated Cardiomyopathy With Ataxia","Cataract - Ataxia - Deafness","Cerebellar Ataxia, Cayman Type","Cerebellar Ataxia With Peripheral Neuropathy","Cerebellar Ataxia - Hypogonadism","Cerebellar Ataxia - Ectodermal Dysplasia","Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss","Brain Tumor Ataxia","Brachydactyly - Nystagmus - Cerebellar Ataxia","Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia","Autosomal Recessive Syndromic Cerebellar Ataxia","Autosomal Recessive Spastic Ataxia With Leukoencephalopathy","Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria","Autosomal Recessive Spastic Ataxia","Autosomal Recessive Metabolic Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine","Autosomal Recessive Ataxia, Beauce Type","Autosomal Recessive Ataxia Due to Ubiquinone Deficiency","Autosomal Recessive Ataxia Due to PEX10 Deficiency","Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia","Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia","Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome","Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity","Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency","Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect","Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion","Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation","Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness","Autosomal Recessive Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly","Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation","Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy","Autosomal Dominant Spastic Ataxia Type 1","Autosomal Dominant Spastic Ataxia","Autosomal Dominant Optic Atrophy","Ataxia-telangiectasia Variant","Ataxia-telangiectasia","Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy","Autosomal Dominant Cerebellar Ataxia Type 4","Autosomal Dominant Cerebellar Ataxia Type 3","Autosomal Dominant Cerebellar Ataxia Type 2","Autosomal Dominant Cerebellar Ataxia Type 1","Autosomal Dominant Cerebellar Ataxia","Ataxia-telangiectasia-like Disorder","Ataxia With Vitamin E Deficiency","Ataxia With Dementia","Ataxia - Oculomotor Apraxia Type 1","Ataxia - Other","Ataxia - Genetic Diagnosis - Unknown","Acquired Ataxia","Adult-onset Autosomal Recessive Cerebellar Ataxia","Alcohol Related Ataxia","Multiple Endocrine Neoplasia","Multiple Endocrine Neoplasia Type II","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Multiple Endocrine Neoplasia, Type IV","Multiple Endocrine Neoplasia, Type 3","Multiple Endocrine Neoplasia (MEN) Syndrome","Multiple Endocrine Neoplasia Type 2B","Multiple Endocrine Neoplasia Type 2A","Atypical Hemolytic Uremic Syndrome","Atypical HUS","Wiedemann-Steiner Syndrome","Breast Implant-Associated Anaplastic Large Cell Lymphoma","Autoimmune\u002FInflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis","Behcet's Disease","Alagille Syndrome","Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)","Lowe Syndrome","Pitt Hopkins Syndrome","1p36 Deletion Syndrome","Jansen Type Metaphyseal Chondrodysplasia","Cockayne Syndrome","Chronic Recurrent Multifocal Osteomyelitis","CRMO","Malan Syndrome","Hereditary Sensory and Autonomic Neuropathy Type Ie","VCP Disease","Hypnic Jerking","Sleep Myoclonus","Mollaret Meningitis","Recurrent Viral Meningitis","CRB1","Rare Retinal Disorder","KCNMA1-Channelopathy","Primary Biliary Cirrhosis","ZMYND11","Transient Global Amnesia","Glycogen Storage Disease","Alstrom Syndrome","White Sutton Syndrome","DNM1","EIEE31","Myhre Syndrome","Recurrent Respiratory Papillomatosis","Laryngeal Papillomatosis","Tracheal Papillomatosis","Refsum Disease","Nicolaides Baraitser Syndrome","Leukodystrophy","Tango2","Cauda Equina Syndrome","Rare Gastrointestinal Disorders","Achalasia-Addisonian Syndrome","Achalasia Cardia","Achalasia Icrocephaly Syndrome","Anal Fistula","Congenital Sucrase-Isomaltase Deficiency","Eosinophilic Gastroenteritis","Idiopathic Gastroparesis","Hirschsprung Disease","Rare Inflammatory Bowel Disease","Intestinal Pseudo-Obstruction","Scleroderma","Short Bowel Syndrome","Sacral Agenesis","Sacral Agenesis Syndrome","Caudal Regression","Scheuermann Disease","SMC1A Truncated Mutations (Causing Loss of Gene Function)","Cystinosis","Juvenile Nephropathic Cystinosis","Nephropathic Cystinosis","Kennedy Disease","Spinal Bulbar Muscular Atrophy","Warburg Micro Syndrome","Mucolipidoses","Mitochondrial Diseases","Mitochondrial Aminoacyl-tRNA Synthetases","Mt-aaRS Disorders","Hypertrophic Olivary Degeneration","Non-Ketotic Hyperglycinemia","Fish Odor Syndrome","Halitosis","Isolated Congenital Asplenia","Lambert Eaton (LEMS)","Biliary Atresia","STAG1 Gene Mutation","Coffin Lowry Syndrome","Borjeson-Forssman-Lehman Syndrome","Blau Syndrome","Arginase 1 Deficiency","HSPB8 Myopathy","Beta-Mannosidosis","TBX4 Syndrome","DHDDS Gene Mutations","MAND-MBD5-Associated Neurodevelopmental Disorder","Constitutional Mismatch Repair Deficiency (CMMRD)","SPATA5 Disorder","SPATA5L1 Related Disorder","Acrodysostosis","Multi-systematic Smooth Muscle Dysfunction Syndrome","CRELD1 (Cysteine Rich With EGF Like Domains 1)","GNB1 Syndrome","Pyruvate Dehydrogenase Complex Deficiency Disease","Beta Mannosidosis","Kbg Syndrome","Labrune Syndrome","Metachromatic Leukodystrophy (MLD)","Moyamoya Disease","OPHN1 Syndrome","Oculopharyngeal Muscular Dystrophy (OPMD)","TUBB3 Mutation","WOREE (WWOX-related Epileptic Encephalopathy","SCAR12","Skraban-Deardorff Syndrome","Hereditary Myopathy With Early Respiratory Failure",[529,530,531,532,533,241,534,535,248,536,207,113,537,538,411,420,539,540,198,541,542,206,543,208,544,197,545,546,423,547,548,426,427,549,429,430,550,551,433,552,553,554,481,555,556,557,558,559,560,561,486,562,563,564,491,492,565,566,567,568,569],"Rare Diseases","Neglected Diseases","Orphan Diseases","Rare Disease Research","Registries","Ataxia","Cornelia de Lange Syndrome","Ataxia Telangiectasia","Mucolipidosis IV","Klippel-Feil Syndrome","Undiagnosed","Uncommon Disease","Hypersomnia","Hyperacusis","Marinesco-Sjogren Syndrome","4p-\u002FWolf-Hirschhorn Syndrome","Narcolepsy","Wiedermann-Steiner Syndrome","Autoimmune\u002Finflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis (HLH)","Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)","1p36 deletion syndrome","Jansen metaphyseal chondrodysplasia","Chronic recurrent multifocal osteomyelitis (CRMO)","Malan syndrome","Hereditary Sensory and Autonomic Neuropathy","Juvenile nephropathic cystinosis","Nephropathic infantile cystinosis","Ocular cystinosis","Kennedy disease","Spinal Bulbar Muscular Atrophy (SBMA)","SMC1A Truncated Mutations (causing loss of gene function)","Leigh syndrome","Mucolipidosis","Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders)","Shine Syndrome","Intestinal Bromhidrosis Syndrome","Fish odor syndrome","Autosomal recessive extra oral halitosis","CACNA1H mutation","Dimethylglycine dehydrogenase deficiency","2025-05-22",{"date":572,"type":40},"2025-05-29",{"date":574,"type":40},"2010-07",{"date":576,"type":21},"2100-12",{"name":578,"class":173},"Sanford Health",2,{"id":581,"slug":582,"hasResults":11,"nctId":583,"briefTitle":584,"officialTitle":585,"acronym":4,"eligibilityCriteria":586,"healthyVolunteers":11,"sex":17,"minAge":57,"maxAge":587,"enrollmentInfo":588,"targetDuration":4,"studyType":22,"phases":590,"briefSummary":591,"conditions":592,"keywords":594,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":596,"lastUpdatePostDateStruct":597,"startDateStruct":599,"completionDateStruct":601,"leadSponsor":603,"locationsCount":48},"100508940","phase-1-safety-and-efficacy-trial-of-hg004-for-leber-congenital-amaurosis-related-to-rpe65-gene-mutations-star-100508940","NCT05906953","Safety and Efficacy Trial of HG004 for Leber Congenital Amaurosis Related to Rpe65 Gene Mutations (STAR)","A Phase 1\u002F2, Open-label, Multi-national, Multiple-cohort, Dose-escalation Study to Evaluate the Safety, Tolerability, and Efficacy of HG004 Gene Therapy in Subjects with RPE65-associated Leber Congenital Amaurosis Type 2 (LCA2)","Inclusion Criteria:\n\n* Male or females between 6 and 50 years of age at the time of signing the informed consent form.\n* Willing to adhere to protocol as evidenced by written informed consent or parental permission and subject assent.\n* Clinical confirmed diagnosis of Leber congenital amaurosis (LCA) and molecular diagnosis of LCA due to RPE65 mutations.\n* Ability to perform tests of visual and retinal function.\n* Visual acuity of ≤ 20\u002F80 or visual field less than 20 degrees in the eye to be injected.\n* Acceptable hematology, clinical chemistry, and urine laboratory parameters.\n\nExclusion Criteria:\n\n* Pre-existing eye conditions that would preclude the planned surgery or interfere with interpretation of study endpoints or complications of surgery (e.g., glaucoma requiring upcoming surgery, corneal or significant lenticular opacities).\n* Presence of epiretinal membrane by OCT.\n* Complicating systemic diseases or clinically significant abnormal baseline laboratory values.\n* Complicating systemic diseases would include those in which the disease itself, or the treatment for the disease, can alter ocular function.\n* Prior ocular surgery within six months.\n* Prior gene therapy or oligonucleotide therapy treatments.\n* Any condition which leads the investigator to believe that the participant cannot comply with the protocol requirements or that may place the participant at an unacceptable risk for participation.","50 Years",{"count":589,"type":21},20,[24,25],"The purpose of the study is to determine whether HG004 as gene therapy is safe and effective for the treatment of Leber Congenital Amaurosis caused by mutations in RPE65 gene.",[28,593],"Inherited Retinal Diseases Caused by RPE65 Mutations",[33,34,595],"LCA2","2024-09-13",{"date":598,"type":40},"2024-09-19",{"date":600,"type":40},"2023-10-31",{"date":602,"type":21},"2025-12",{"name":604,"class":47},"HuidaGene Therapeutics Co., Ltd."]