[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"genotype\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:genotype":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,6,0,[8,41,80,106,137,162],{"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":27,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":4,"leadSponsor":37,"locationsCount":40},"100143971","genotype-phenotype-study-of-patients-with-plaquenil--induced-retinal-toxicity-with-evaluation-of-the-abca4-gene-100143971",false,"NCT01145196","Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene","Genotype - Phenotype Study of Patients With Plaquenil-induced Retinal Toxicity","* INCLUSION CRITERIA:\n\n  1\\. Affected participants must be 18 years of age or older and have:\n* History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) or Sjogren's syndrome, and\n* History of Plaquenil(R) use, and\n* Evidence of Plaquenil(R)-induced retinal toxicity, based on clinical findings.\n\n  2\\. Unaffected volunteers must be 18 years of age or older and have:\n* History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) or Sjogren's syndrome, and\n* History of Plaquenil(R) use, and\n* No retinal disease upon examination within the last six months.\n\n  3\\. All participants must be able to:\n* Provide their own consent, and\n* Safely provide a blood sample.\n\n\\\u003CTAB\\>\n\nEXCLUSION CRITERIA:\n\nParticipants with other known (genetic) retinal disease including but not limited to: Stargardt's disease and cone or cone-rod dystrophy whose diagnosis preceded their Plaquenil(R) use. Participants with no known previous genetic diagnosis but with clinical findings associated with a genetic diagnosis, such as parafoveal or macular flecks which are associated with Stargardt's disease or fundus flavimaculatus, will also be excluded.","ALL","18 Years","120 Years",{"count":20,"type":21},320,"ESTIMATED","OBSERVATIONAL","Background:\n\n\\- Plaquenil (hydroxychloroquine) is an anti-inflammatory drug that is used to treat some autoimmune diseases such as lupus and rheumatoid arthritis. This drug can damage the retina by causing a condition called Plaquenil-induced retinal toxicity, which may lead to vision loss. However, most people taking Plaquenil do not develop this problem. Researchers are interested in studying whether differences in a person's genes explain why some people develop Plaquenil-induced retinal toxicity while others do not.\n\nObjectives:\n\n\\- To investigate possible correlations between certain genes or genetic mutations and Plaquenil-induced retinal toxicity.\n\nEligibility:\n\n* Individuals at least 18 years of age who have previously used Plaquenil.\n* History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), or Sjogren's syndrome.\n* Both individuals who have and have not developed Plaquenil-induced retinal toxicity will be eligible for this study.\n\nDesign:\n\n* The study requires five annual outpatient visits to the NIH Clinical Center.\n* Participants will provide a personal and family medical history, and will have a full eye examination.\n* Participants will also provide blood samples for genetic analysis, including whole exome and whole genome sequencing.\n* No treatment will be provided as part of this protocol.",[25,26],"Genotype","Retinal Disease",[26,28,29],"Plaquenil-Induced","Natural History","RECRUITING","2026-06-23",{"date":33,"type":34},"2026-06-24","ACTUAL",{"date":36,"type":34},"2010-08-23",{"name":38,"class":39},"National Eye Institute (NEI)","NIH",1,{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":46,"acronym":47,"eligibilityCriteria":48,"healthyVolunteers":49,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":50,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":52,"conditions":53,"keywords":63,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":70,"lastUpdatePostDateStruct":71,"startDateStruct":73,"completionDateStruct":75,"leadSponsor":77,"locationsCount":40},"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":51,"type":21},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.",[54,55,56,57,58,59,60,25,61,62],"Retinal Dystrophies","Color Vision Defects","Vision Disorders","Macular Degeneration","Achromatopsia","Optical Coherence Tomography (OCT)","Visual Acuity","Mutation","Phenotype",[64,65,66,67,68,69],"observational","IRD","ultra low vision","inherited retinal disease","color vision","color test","2025-12-03",{"date":72,"type":34},"2025-12-10",{"date":74,"type":34},"2025-07-20",{"date":76,"type":21},"2027-09-28",{"name":78,"class":79},"Zhongmou Therapeutics","INDUSTRY",{"id":81,"slug":82,"hasResults":11,"nctId":83,"briefTitle":84,"officialTitle":84,"acronym":4,"eligibilityCriteria":85,"healthyVolunteers":49,"sex":16,"minAge":86,"maxAge":17,"enrollmentInfo":87,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":89,"conditions":90,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":96,"lastUpdatePostDateStruct":97,"startDateStruct":99,"completionDateStruct":101,"leadSponsor":103,"locationsCount":40},"100603626","phenotype---genotype-correlation-in-a-sample-of-egyptian-patients-with-congenital-myopathies-and-congenital-muscular-dystrophies-100603626","NCT07138963","Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies","Inclusion Criteria:\n\n* Patients with clinical criteria of Congenital Myopathies (CMs) and Congenital Muscular dystrophies (CMDs) with different modes of inheritance.\n* Age: patients below age of 18 years.\n* Gender: Both males and females are included\n* Genetically confirmed CMs and CMDs.\n\nExclusion Criteria:\n\n* Patients above 18 years.\n* Spinal muscular atrophy (SMA),and root lesions.\n* Congenital myasthenic syndromes\n* Dystrophinopathies,Duchenne Muscular Dystrophy (DMD), Limb-Girdle Muscular Dystrophy (LGMD)\n* .Metabolic myopathies\n* .Inflammatory muscle diseases","1 Year",{"count":88,"type":21},25,"The aim of this study is to correlate the phenotype and genotype among a sample of Egyptian patients with Congenital myopathies and Congenital muscular dystrophies.",[62,25,91,92,93,94,95],"Correction","Sample","Egyptian Patients","Congenital Myopathies","Congenital Muscular Dystrophies","2025-08-17",{"date":98,"type":34},"2025-08-24",{"date":100,"type":34},"2024-06-30",{"date":102,"type":21},"2026-06-30",{"name":104,"class":105},"Ain Shams University","OTHER",{"id":107,"slug":108,"hasResults":11,"nctId":109,"briefTitle":110,"officialTitle":110,"acronym":111,"eligibilityCriteria":112,"healthyVolunteers":11,"sex":16,"minAge":113,"maxAge":4,"enrollmentInfo":114,"targetDuration":4,"studyType":116,"phases":117,"briefSummary":119,"conditions":120,"keywords":122,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":128,"lastUpdatePostDateStruct":129,"startDateStruct":131,"completionDateStruct":133,"leadSponsor":135,"locationsCount":40},"100584655","the-study-of-the-phenotype-of-hereditary-xerocytosis-100584655","NCT06892171","The Study of the Phenotype of Hereditary Xerocytosis","EPIOX","Inclusion Criteria:\n\n* Any patient diagnosed with hereditary xerocytosis according to the 2021 PNDS guidelines\n* Covered by a social security plan\n* Signature of the consent form for study participation by the patient, or for minors, by the parent(s)\u002Flegal representative(s).\n\nExclusion Criteria:\n\n* patients with other hemolysis reason","10 Years",{"count":115,"type":21},20,"INTERVENTIONAL",[118],"NA","Hereditary xerocytosis is a dominant red blood cell membrane disorder characterized by an increased leakage of potassium from the interior to the exterior of the red blood cell membrane, leading to water loss, red cell dehydration, and chronic hemolysis. In 90% of cases, it is associated with heterozygous gain-of-function mutations in PIEZO1, a gene that encodes a mechanotransducer responsible for converting mechanical stimuli into biological signals. The remaining 10% of cases are linked to mutations in the GARDOS channel gene.",[121,62,25],"Xerocytosis",[123,124,125,126,127],"xerocytosis","phenotype","genotype","PIEZO1","KCNN4 mutation","2025-04-29",{"date":130,"type":34},"2025-04-30",{"date":132,"type":34},"2025-03-01",{"date":134,"type":21},"2028-03",{"name":136,"class":105},"Centre Hospitalier Universitaire, Amiens",{"id":138,"slug":139,"hasResults":11,"nctId":140,"briefTitle":141,"officialTitle":142,"acronym":4,"eligibilityCriteria":143,"healthyVolunteers":49,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":144,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":146,"conditions":147,"keywords":148,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":152,"lastUpdatePostDateStruct":153,"startDateStruct":155,"completionDateStruct":157,"leadSponsor":159,"locationsCount":161},"100576909","ai-driven-genotype-prediction-using-ehr-and-multimodal-data-100576909","NCT06791421","AI-Driven Genotype Prediction Using EHR and Multimodal Data","Predicting Patient Genotypes Using Electronic Health Records and Multimodal Data Through AI-Based Models","Inclusion Criteria:\n\n1. Participants must have comprehensive electronic health records (EHR), including medical history, lab results, and relevant imaging data (e.g., X-rays, MRIs, CT scans).\n2. Participants must have existing genetic testing data available for comparison, if applicable.\n3. Participants must be willing to provide consent for the use of their health data in the study.\n4. Participants must have no active intervention related to genetic testing or prediction during the study period.\n5. Participants should have complete and verifiable health data to allow for accurate prediction by the AI model.\n\nExclusion Criteria:\n\n1. Participants without available EHR, lab results, or imaging data.\n2. Participants with ambiguous, inaccurate, or unverifiable genetic testing results that cannot be used for comparison.\n3. Patients with significant discrepancies or missing data that would prevent the AI model from making accurate predictions.",{"count":145,"type":21},100000,"The goal of this clinical study is to explore the potential of using electronic health records (EHR) and multimodal data (such as imaging, lab results, and clinical history) to predict a patient's genotype. The study will evaluate whether predictive models based on this non-genetic data can accurately infer genetic information, which traditionally requires direct genetic testing.",[25],[149,150,25,151],"AI","AI-prediction","Multimodal data","2025-04-16",{"date":154,"type":34},"2025-04-17",{"date":156,"type":34},"2023-07-01",{"date":158,"type":21},"2025-06",{"name":160,"class":105},"The Eye Hospital of Wenzhou Medical University",4,{"id":163,"slug":164,"hasResults":11,"nctId":165,"briefTitle":166,"officialTitle":167,"acronym":4,"eligibilityCriteria":168,"healthyVolunteers":49,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":169,"targetDuration":4,"studyType":116,"phases":171,"briefSummary":172,"conditions":173,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":178,"lastUpdatePostDateStruct":179,"startDateStruct":181,"completionDateStruct":183,"leadSponsor":185,"locationsCount":40},"100509658","family-inheritance-gene-gene-and-gene-environment-interactions-in-the-field-of-cardiovascular-and-renal-diseases-fifth-visit-of-the-stanislas-cohort-100509658","NCT05916287","FAMILY INHERITANCE, GENE-GENE AND GENE-ENVIRONMENT INTERACTIONS IN THE FIELD OF CARDIOVASCULAR AND RENAL DISEASES. Fifth Visit of the STANISLAS Cohort","HÉRITABILITÉ FAMILIALE, INTERACTIONS GÈNE-GÈNE ET GÈNE-ENVIRONNEMENT DANS LE DOMAINE DES MALADIES CARDIOVASCULAIRES ET RENALES. Cinquième Visite de la Cohorte STANISLAS","Inclusion Criteria:\n\n* aged over 18\n* Person who participated in the Stanislas Cohort\n* Person affiliated to a social security scheme or beneficiary of such a scheme\n* Person having received complete information on the organization of the research and having signed an informed consent\n\nExclusion Criteria:\n\n* Persons deprived of their liberty by a judicial or administrative decision, persons undergoing psychiatric treatment under Articles L. 3212-1 and L. 3213-1\n* Person referred to in Articles L. 1121-5, L. 1121-7 and L1121-8 of the Public Health Code:\n\n  * Pregnant woman, parturient or nursing mother\n  * Adult person subject to a legal protection measure (guardianship, curatorship, safeguard of justice)\n  * Person of full age unable to express consent",{"count":170,"type":21},3000,[118],"The Stanislas Cohort is a monocentric familial longitudinal cohort originally comprised of 1006 families consisting of two parents and at least two biological children and deemed healthy, recruited in 1993-1995 at the Centre for Preventive Medicine of Nancy. This cohort was established with the primary objective of investigating gene-gene and gene-environment interactions in the field of cardiovascular diseases. The 5th visit of the STANISLAS Cohort will allow a better evaluation of the cardiovascular ageing of the population and the transition toward cardiovascular or renal diseases in relation with their genetic profile and environment.",[174,175,25,176,177],"Cardiovascular Diseases","Cohort Studies","Risk Factors","Nutrition","2023-08-11",{"date":180,"type":34},"2023-08-15",{"date":182,"type":34},"2023-07-13",{"date":184,"type":21},"2027-07-13",{"name":186,"class":105},"Central Hospital, Nancy, France"]