[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"inherited-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:inherited-disease":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,41,67],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":4,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":33,"completionDateStruct":35,"leadSponsor":37,"locationsCount":40},"100468926","adaptive-optics-retinal-imaging-in-inherited-and-acquired-retinal-disorders-100468926",false,"NCT05386134","Adaptive Optics Retinal Imaging in Inherited and Acquired Retinal Disorders","Adaptive Optics Imaging in Retinal Disorders","Inclusion Criteria:\n\n1. Consent provided\n2. Aged 5 - 70 years\n3. Diagnosed with well documented retinal disorder\n\nControl group Inclusion Criteria:\n\n1. Subjects aged 5 years - 70 years with normal eye examination.\n2. Patients with strabismus and otherwise normal visual acuity and eye examination\n3. Patients with unilateral eye diseases such as cataract, with a normal eye exam in the fellow eye.\n\nExclusion Criteria:\n\n1. Inability of the subject to maintain a stable position while seated\n2. Uncontrolled nystagmus, trembling or movements of the eyes or the head\n3. Presence of cataract or any opacity in the front of the eye that obscures retinal imaging\n4. Any general disease such neurological disease which could affect vision and the retina.\n5. History of previous uveitis, glaucoma, previous intra-ocular surgery or photodynamic therapy\n6. High refractive errors (\\> +15D or \\\u003C -15D) that cannot be corrected by the adaptive optics system.\n7. Patients who have a history of photosensitivity or take any medicine that cause photosensitivity as a side effect\n8. Patients who are aphakic after cataract surgery",true,"ALL","5 Years","70 Years",{"count":21,"type":22},200,"ESTIMATED","OBSERVATIONAL","This is a Prospective Observational study. The aim of the study is to understand the underlying photoreceptor, retinal pigment epithelium or retinal vascular aberrations in inherited and acquired retinal disorders. The study would use adaptive optics (AO) technology to assist in-vivo visualization of these retinal structures and ascertain changes from normal. Further, by using the AO imaging in patients before and after treatments, this study aims to better understand the effect of various interventions and develop AO as an outcome measure in various retinal disorders.",[26,27],"Genetic Disease","Inherited Disease","RECRUITING","2026-04-22",{"date":31,"type":32},"2026-04-28","ACTUAL",{"date":34,"type":32},"2022-06-13",{"date":36,"type":22},"2033-06-13",{"name":38,"class":39},"The Hospital for Sick Children","OTHER",1,{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":46,"acronym":4,"eligibilityCriteria":47,"healthyVolunteers":16,"sex":17,"minAge":48,"maxAge":4,"enrollmentInfo":49,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":51,"conditions":52,"keywords":4,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":58,"lastUpdatePostDateStruct":59,"startDateStruct":61,"completionDateStruct":63,"leadSponsor":65,"locationsCount":40},"100329392","blood-markers-of-early-pancreas-cancer-100329392","NCT03568630","Blood Markers of Early Pancreas Cancer","A Longitudinal Cohort Study to Identify Clinical and Blood Markers of Early Pancreas Cancer","Inclusion Criteria:\n\n* Age ≥19\n* Able to provide written, informed consent\n* Able to attend an in-person study visit in Omaha, NE twice a year to collect blood samples\n* Must also meet criteria for one specific cohort. Participants who meet criteria for more than one cohort are eligible. (The intent being that potential participants must meet the criteria for at least one cohort, but are eligible if criteria are met for more than one cohort)\n\n  o New onset diabetes\u002Fhigh-risk pre-diabetes cohort: must meet one of the following criteria: New onset type 2 diabetes diagnosed within the past 3 years, defined as A1c ≥ 6.5%, fasting blood glucose \\>126mg\u002FdL confirmed on a subsequent day or as diagnosed by a physician High-risk pre-diabetes: A1c \\>6.3% or A1c \\>6.0% with fasting blood glucose \\>110 or 2 hour oral glucose tolerance test between 140-200mg\u002FdL, or taken metformin \\\u003C3 years\n\n  o Pancreatic cystic neoplasm\u002Fpancreatitis cohort: must have one of the following diagnoses: Pancreatic cystic neoplasm for which resection, endoscopic ultrasound (EUS) or serial imaging has been recommended Chronic pancreatitis as defined by cross-sectional imaging, endoscopic ultrasound, functional testing abnormalities OR as diagnosed by a gastroenterologist\n\n  o Inherited risk cohort: must meet one of the following criteria: Two or more blood relatives with pancreatic ductal adenocarcinoma (PDAC), includes 1st-3rd degree relatives (First - parent, sibling or child; Second - grandparent, aunt\u002Funcle, niece\u002Fnephew, or half-sibling; Third - first cousin, great grand parent or great grandchild) One 1st degree relative with PDAC diagnosed before age 60; Germline mutation associated with a higher than average risk of PDAC, including but not limited to: Hereditary breast and ovarian cancer syndromes (BRCA1, BRCA2, PALB2) Hereditary nonpolyposis colon cancer (Lynch) syndrome (MLH1, MSH2, MSH6, PMS2) Familial adenomatous polyposis (APC) Familial atypical multiple melanoma and mole syndrome (CKDN2a, p16) Peutz-Jeghers syndrome (STK11) Ataxia-telangectasia (ATM) Juvenile polyposis syndromes (SMAD4, BMPR1A) Li Fraumeni (TP53) Cystic fibrosis and unaffected carriers (CFTR) Personal or family history which meets clinical criteria for a hereditary cancer syndrome and includes a relative with PDAC (as above)\n\nExclusion Criteria:\n\n* Personal history of pancreatic ductal adenocarcinoma (PDAC)\n* Currently receiving treatment for a cancer diagnosis (excluding long-term hormonal therapy)\n* Pre-diabetes on metformin for ≥ 3 years","19 Years",{"count":50,"type":22},1250,"Identifying biomarkers of early pancreatic ductal adenocarcinoma (PDAC) could facilitate screening for individuals at higher than average risk and expedite the diagnosis in individuals with symptoms and substantially improve an individual's chance of surviving the disease.\n\nThe investigators propose a longitudinal study of subjects at higher than average risk of PDAC in order to generate clinical data and bank serial blood specimens.",[53,54,55,56,57,27],"Diabetes Mellitus, Type 2","PreDiabetes","Pancreas Cyst","Chronic Pancreatitis","Genetic Predisposition to Disease","2026-01-29",{"date":60,"type":32},"2026-02-02",{"date":62,"type":32},"2018-07-26",{"date":64,"type":22},"2028-07",{"name":66,"class":39},"University of Nebraska",{"id":68,"slug":69,"hasResults":11,"nctId":70,"briefTitle":71,"officialTitle":72,"acronym":4,"eligibilityCriteria":73,"healthyVolunteers":11,"sex":17,"minAge":74,"maxAge":4,"enrollmentInfo":75,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":77,"conditions":78,"keywords":84,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":107,"lastUpdatePostDateStruct":108,"startDateStruct":110,"completionDateStruct":112,"leadSponsor":114,"locationsCount":40},"100430075","longitudinal-study-of-ultra-rare-inherited-metabolic-and-degenerative-neurological-diseases-100430075","NCT04880356","Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.","Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases","Inclusion Criteria:\n\n* Age \\>= 18 years\n* Subjects with ultra-rare inherited degenerative and metabolic neurological diseases\n* Subjects with undiagnosed neurological diseases (when supposed to be inherited)\n\nExclusion Criteria:\n\n* none","18 Years",{"count":76,"type":22},100,"General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal collection of clinical, laboratory and instrumental data.",[27,79,80,81,82,83],"Rare Diseases","Metabolic Disease","Undiagnosed Disease","Neurologic Disorder","Neuro-Degenerative Disease",[85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,106],"Leukodystrophies,","Adrenoleukodystrophy,","Metachromatic leukodystrophy,","Krabbe disease,","Vanishing White Matter Syndrome,","Alexander disease,","Hereditary Leukodystrophy with Spheroids (CSF1R-related HLDS),","Nasu-Hakola disease (TREM2- and TYROBP-related disease)","Leukoencephalopathy, progressive, with ovarian failure (LKENP, AARS2-related),","Pelizaeus-Merzbacher disease,","Pelizaeus-Merzbacher-like disease,","Hypomyelinating leukodystrophies,","Leukodystrophies with calcifications and cysts (LCC),","Leukoencephalopathy with ataxia disease (LKPAT, CLCN2-related),","L-2-Hydroxyglutaric aciduria,","Polyglucosan bodies disease,","Methylmalonic acidemia with homocystinuria,","Niemann-pick type C,","Fahr's disease,","Wilson's disease,","Cerebrotendinous Xanthomatosis,","Sphingolipidoses","2024-11-15",{"date":109,"type":32},"2024-11-19",{"date":111,"type":32},"2021-03-01",{"date":113,"type":22},"2031-03",{"name":115,"class":39},"Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta"]