[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"autosomal-dominant-polycystic-kidney\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:autosomal-dominant-polycystic-kidney":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,49,80,106,127],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":30,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100515839","developing-a-pipeline-to-employ-rna-seq-as-a-complementary-diagnostic-tool-in-rare-diseases-100515839",false,"NCT05996731","Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases","ANTHEM","Healthy subjects.\n\nInclusion Criteria:\n\n* Male and female adults\n* Written informed consent\n\nExclusion Criteria:\n\n* Inability to understand the potential risk and benefits of the study\n* Legal incapacity\n\nValidation cohort.\n\nInclusion criteria:\n\n* Male and female adults\n* Genetic diseases affecting RNA levels (frameshifts, stop, large deletions, alteration of canonical splicing sites)\n* Written informed consent\n\nExclusion criteria:\n\n* Underage patients\n* Inability to understand the potential risk and benefits of the study\n* Legal incapacity\n\nDiscovery cohort.\n\nInclusion criteria:\n\n* Male and female patients (children and adults with onset in infancy or early adulthood) with rare genetic undiagnosed diseases\n* Patients with no strong candidates based on previous genetic analysis such as WES, but with clinically suspicion of a genetic rare disease\n* Written informed consent\n\nExclusion criteria:\n\n* Inability to understand the potential risk and benefits of the study\n* Legal incapacity",true,"ALL",{"count":19,"type":20},105,"ESTIMATED","INTERVENTIONAL",[23],"NA","This project aims to identify, through RNA-Seq technology, the genetic alterations underlying undiagnosed rare diseases in pediatric and adult patients with early onset and with negative WES.\n\n* Objective 1: Set up and validate techniques. Set-up and validation of the transcriptome analysis protocol in healthy subjects and in patients with known splicing alterations and\u002For altered RNA expression.\n* Objective 2: Diagnostic phase. Study of splicing alterations and RNA levels in cultured fibroblasts obtained from skin biopsies of patients with rare genetic diseases and negative exome.\n\nExploratory goals\n\n* Compare the RNA expression profile obtained from skin biopsy-derived fibroblasts with the RNA expression profile from blood. The most relevant results will be validated in qRT-PCR.\n* To analyze the transcriptional and protein profile heterogeneity in skin-derived fibroblasts in enrolled subjects.\n\nTo explore the effects of genetic (from WES) and transcriptional (from RNA-seq) alterations in participants' plasma and serum.\n\nHealthy controls Five healthy subjects will be recruited from the staff of the Mario Negri Institute for Pharmacological Research. The coded samples will be used to set up the method of isolation and culture of skin fibroblasts and RNA-Seq.\n\nValidation group For the set-up and validation of the skin fibroblast isolation and RNA-Seq procedure, ten adult patients with known diagnosis and with alterations in RNA levels and\u002For splicing will be recruited as positive controls.\n\nPatients who meet the requirements described above will be contacted by the doctors of the Daccò Center for an interview explaining the project. Those who agree to participate in the study will be asked to sign the informed consent before proceeding with the experimental part.\n\n\"Discovery\u002FExploration\" group The exploration cohort will be composed of 30 symptomatic undiagnosed patients with suspected genetic disease (children and adults with infantile onset) belonging to the Clinical Center of the Mario Negri Institute for Pharmacological Research and for whom WES investigations did not reveal causative genetic alterations.",[26,27,28,29],"Atypical Hemolytic Uremic Syndrome","Membranoproliferative Glomerulonephritis","Autosomal Dominant Polycystic Kidney","Healthy",[31,32,33,34,35],"Undiagnosed genetic rare diseases","Whole-exome sequencing","RNA-Sequencing","Molecular diagnosis","Skin-derived fibroblasts","RECRUITING","2026-03-19",{"date":39,"type":40},"2026-03-23","ACTUAL",{"date":42,"type":40},"2024-02-21",{"date":44,"type":20},"2026-06",{"name":46,"class":47},"Mario Negri Institute for Pharmacological Research","OTHER",1,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":54,"acronym":4,"eligibilityCriteria":55,"healthyVolunteers":11,"sex":17,"minAge":56,"maxAge":57,"enrollmentInfo":58,"targetDuration":4,"studyType":60,"phases":4,"briefSummary":61,"conditions":62,"keywords":66,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":71,"lastUpdatePostDateStruct":72,"startDateStruct":74,"completionDateStruct":76,"leadSponsor":78,"locationsCount":48},"100371079","a-prospective-observational-study-of-foam-sclerotherapy--100371079","NCT04111692","A Prospective Observational Study of Foam Sclerotherapy .","A Prospective Observational Study of Foam Sclerotherapy for the Treatment of Symptomatic Kidney or Liver Cysts in Patients With Autosomal Dominant Polycystic Kidney and Liver Disease.","Inclusion Criteria:\n\n* Age ≥18 years\n* Clinical diagnosis of ADPKD or ADPLD\n* 1-3 large, non-exophytic liver or kidney cyst\n* Compressive symptoms from dominant cyst\n\nExclusion Criteria:\n\n* Age \\\u003C18 years\n* Absence of ADPKD or ADPLD\n* Largest cyst \\\u003C4cm in all 3 dimensions or largest cyst volume \\\u003C400cc\n* \\>3 large, non-exophytic liver or kidney cyst(s) ≥4cm in all 3 dimensions (cyst volume ≥400cc)\n* Unwilling to comply with study follow-up protocol to 12 ± 1months post-FS\n* Lacking capacity to provide informed consent to FS of liver or kidney cysts\n* Pregnancy","18 Years","100 Years",{"count":59,"type":20},100,"OBSERVATIONAL","An observational prospective study to determine the impact of foam sclerotherapy of large, dominant kidney\u002Fliver cysts on quality of life outcomes and kidney\u002Fliver cyst volumes at up to 12 months of follow-up in patients with autosomal dominant polycystic kidney disease (ADPKD) and autosomal dominant polycystic liver disease (ADPLD).",[28,63,64,65],"Renal Cyst","Autosomal Dominant Polycystic Liver Disease","Hepatic Cyst",[67,68,69,70],"hepatic cyst","Kidney Cyst","Autosomal Polycystic Liver Disease","Autosomal Polycystic Kidney Disease","2026-01-22",{"date":73,"type":40},"2026-01-26",{"date":75,"type":40},"2017-11-06",{"date":77,"type":20},"2027-11",{"name":79,"class":47},"Mayo Clinic",{"id":81,"slug":82,"hasResults":11,"nctId":83,"briefTitle":84,"officialTitle":85,"acronym":4,"eligibilityCriteria":86,"healthyVolunteers":11,"sex":17,"minAge":56,"maxAge":87,"enrollmentInfo":88,"targetDuration":4,"studyType":21,"phases":90,"briefSummary":92,"conditions":93,"keywords":95,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":97,"lastUpdatePostDateStruct":98,"startDateStruct":100,"completionDateStruct":102,"leadSponsor":104,"locationsCount":48},"100560878","phase-2-glucagon-like-peptide-1-receptor-agonist-in-adpkd-100560878","NCT06582875","Glucagon-Like Peptide-1 Receptor Agonist in ADPKD","Advancing ADPKD Treatment With GLP-1RA: A Study of Glucagon-Like Peptide-1 Receptor Agonists' Efficacy, Safety, and Mechanism","Inclusion Criteria:\n\n* 18-65 years of age\n* ADPKD diagnosis based on the modified Pei-Ravine criteria\n* Body-mass index of ≥27 kg\u002Fm\\^2\n* Estimated glomerular filtration rate ≥ 30 mL\u002Fmin\u002F1.73m\\^2\n* Mayo Classification of C, D, or E, calculated from a previous kidney ultrasound or MRI performed within the last 12 months\n* Not currently participating in or planning to participate in any formal weight loss or physical activity program, or another interventional study\n* Ability to provide informed consent\n\nExclusion Criteria:\n\n* Diabetes mellitus\n* Tolvaptan usage or plans to initiate tolvaptan\n* History of hospitalization or major surgery within the last 3 months\n* Uncontrolled hypertension (systolic blood pressure \\> 160 or diastolic blood pressure \\>100 mm Hg)\n* Pregnancy, lactation, or unwillingness to use adequate birth control\n* Regular use of prescription or over-the-counter medications that may affect weight, appetite, food intake, or energy metabolism\n* History of clinically diagnosed eating disorder including: anorexia nervosa, bulimia, binge eating disorder\n* Weight change of \\>5% in the past 3 months for any reason except post-partum weight loss\n* Inability to cooperate with or clinical contraindication for MRI including: severe claustrophobia, implants, devices, or non-removable body piercings\n* Presence or personal history of malignant neoplasm within 5 years prior to the day of screening\n* Personal or family history of medullary thyroid carcinoma, thyroid nodule, or multiple endocrine neoplasia type 2\n* Prior history of pancreatitis\n* Weight ≥450 lb","65 Years",{"count":89,"type":20},126,[91],"PHASE2","The proposed clinical trial aims to assess if a year of treatment with a glucagon-like peptide 1 receptor agonist, a medication approved for weight management that also improves the body's response to glucose and insulin, can slow kidney growth in adults with autosomal dominant polycystic kidney disease who are overweight or obese. The study will also evaluate changes in abdominal fat and kidney metabolism using cutting-edge images techniques. Blood and urine samples will provide further insight into biological changes that may be linked to the benefits of the intervention, while ensuring careful monitoring of safety and tolerability.",[28,94],"Obesity",[96],"GLP1RA","2025-05-05",{"date":99,"type":40},"2025-05-06",{"date":101,"type":40},"2025-03-06",{"date":103,"type":20},"2029-06-30",{"name":105,"class":47},"University of Colorado, Denver",{"id":107,"slug":108,"hasResults":11,"nctId":109,"briefTitle":110,"officialTitle":110,"acronym":4,"eligibilityCriteria":111,"healthyVolunteers":11,"sex":17,"minAge":56,"maxAge":4,"enrollmentInfo":112,"targetDuration":4,"studyType":60,"phases":4,"briefSummary":114,"conditions":115,"keywords":117,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":118,"lastUpdatePostDateStruct":119,"startDateStruct":121,"completionDateStruct":123,"leadSponsor":125,"locationsCount":48},"100574427","analysis-of-patients-with-autosomal-dominant-polycystic-kidney-100574427","NCT06759142","Analysis of Patients With Autosomal Dominant Polycystic Kidney","Inclusion Criteria:\n\n* Age-matched subjects with a diagnosis of ADPKD defined on the basis of the Unified Criteria of Pei. Diagnosis in subjects with a positive family history is based on age-differentiated ultrasound criteria. The presence of a \"total of 3 or more cysts\" in subjects aged 18-39 years and \"2 or more cysts in each kidney\" in at-risk subjects aged 40-59 years are sufficient to make the diagnosis of ADPKD.In the absence of family history, the presence of more than 10 cysts per kidney on ultrasound is typically considered diagnostic. Where the picture appears unclear, and particularly where the diagnosis has a major fallout (related to family planning, renal donation, initiation of specific drug treatment), genetic confirmation is strongly recommended.\n* Obtaining Informed Written Consent.\n\nExclusion Criteria:\n\n* None.",{"count":113,"type":20},180,"The main objective of the study is to establish a database of clinical data and genetic data of patients diagnosed with ADPKD, with particular focus on those who have undertaken a specific therapy (Tolvaptan or Octreotide), afferent to the Integrated Renal Genetic Diseases Outpatient Clinic of the U.O. Nephrology, Dialysis and Transplantation of the Sant'Orsola-Malpighi Polyclinic directed by Prof. La Manna. In-depth analysis and comparison on clinical, laboratory and instrumental outcomes will be performed within this population.\n\nA thorough personal and family history will be obtained, and once informed consent is obtained, data will be entered and updated during subsequent outpatient monitoring.\n\nAttention is paid to the clinical course of the disease in relation to genetic variants (genotype-phenotype correlation) and treatments performed by patients, in order to monitor the progression of the disease to end-stage renal failure (ESRD) and the impact that specific therapy has on various parameters identified as indicating such progression. In particular, monitoring of the reduction in renal function, as assessed by creatinine, eGFR, 24-hour proteinuria, and urinary osmolarity values, with attention to comparing developmental trends toward ESDR between patients not receiving therapy and patients on specific therapy, and monitoring of the numerical and\u002For volumetric increase in renal cysts, as assessed by imaging comparison of the TKV value at the time of diagnosis of polycystic kidney disease and at subsequent re-evaluation, with attention to the extent of progression following the initiation of specific therapy, will be performed.",[28,116],"ADPKD",[116],"2024-12-30",{"date":120,"type":40},"2025-01-06",{"date":122,"type":40},"2021-02-20",{"date":124,"type":20},"2025-06-01",{"name":126,"class":47},"IRCCS Azienda Ospedaliero-Universitaria di Bologna",{"id":128,"slug":129,"hasResults":11,"nctId":130,"briefTitle":131,"officialTitle":131,"acronym":132,"eligibilityCriteria":133,"healthyVolunteers":11,"sex":134,"minAge":56,"maxAge":135,"enrollmentInfo":136,"targetDuration":4,"studyType":21,"phases":138,"briefSummary":139,"conditions":140,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":142,"lastUpdatePostDateStruct":143,"startDateStruct":145,"completionDateStruct":147,"leadSponsor":149,"locationsCount":151},"100475988","phase-2-a-gnrh-agonist-in-pre-menopausal-women-study-to-treat-severe-polycystic-liver-disease-100475988","NCT05478083","A GnRH Agonist IN Pre-menopausal Women STudy to Treat Severe Polycystic Liver Disease","AGAINST-PLD","Inclusion Criteria:\n\n* Female patients\n* Diagnosis of polycystic liver disease defined as the presence of more than 10 liver cysts\n* Age between 18 to 45 (inclusive) years;\n* Very large liver for age, defined as the upper 10% of liver volumes in specific age categories (based on a retrospective polycystic liver disease registry, n=1.600 patients)\n\n  * 18-30 yr; height adjusted TLV \\> 2.0 L\u002Fm\n  * 30-35 yr; height adjusted TLV \\> 2.2 L\u002Fm\n  * 35-40 yr; height adjusted TLV \\> 2.5 L\u002Fm\n  * 40-45 years; height adjusted TLV \\> 3.0 L\u002Fm\n* Availability of at least 1 historical MRI or CT scan made between 5 to 1 years before baseline visit of this study\n* Ongoing liver growth, defined as an increase in absolute total liver volume between the historical MRI or CT scan and the MRI at screening of this trial\n* Since somatostatin analogues are proven efficacious therapy for polycystic liver disease at this time it is required that:\n\n  * patients use a somatostatin analogue and still have confirmed liver growth; OR\n  * patient have a specific reason not to use this medication, .e.g. patient used a somatostatin analogue in the past, but had to stop it due to inefficacy or because he\u002Fshe did not tolerate it, patient has a contra-indication for using somatostatin analogues, no availability of somatostatin analogues\n* Voluntary written informed consent before performance of any study-related procedures not part of standard medical care, and able to read, comprehend, and respond to study questionnaires.\n\nExclusion Criteria:\n\nPost-menopausal status or (vasomotor) symptoms indicating upcoming menopause\n\n* Anti Mullerian Hormone (AMH) measurement at screening visit \\\u003C0.03 ng\u002Fml.\n* Active desire to have children, pregnancy or breast-feeding\n* Contra-indications for leuprorelin, such as history of cardiovascular disease, history of osteoporosis or osteoporosis determined by DEXA-scan at screening (T score ≤ - 2.5), or a known intolerance for leuprorelin\n* Liver transplantation or liver surgery expected within 1.5 years, to the discretion of the study doctor\n* Use of hormonal oral contra-conception containing estrogen and\u002For progesterone. In contrast, a hormone containing uterine device is not an exclusion criteria.\n* Contra-indications for MRI assessments (such as implants) or not able or willing to undergo MRI scan for other reasons (e.g. claustrophobia, profound obesity)\n* Kidney transplantation or chronic use of immunosuppressive agents (such as cyclosporine, mycophenolic acid, tacrolimus but not prednisolone) for other indications\n* Severe hypertension, defined as a systolic blood pressure \\>160 mmHg and\u002For diastolic blood pressure \\> 100 mm Hg.\n* Clinically significant, uncontrolled medical condition that, in the opinion of the investigator, would put the safety of the patient at risk through participation, or which would affect the efficacy of safety analysis if the condition exacerbated during the study, or that may significantly interfere with study compliance, such as, but not restricted to, recurrent cholangitis, recurrent ascites or hepato-venous outflow obstruction, (history of) depression\n* Participation in other interventional studies at the same time.","FEMALE","45 Years",{"count":137,"type":20},36,[91],"Multicenter trial on the effect of the GnRH analogue leuprorelin on the growth of total liver volume in pre-menopausal women with very severe polycystic liver disease who, despite available therapy, experience growth and are heading for liver transplantation.",[141,28],"Polycystic Liver Disease","2022-11-03",{"date":144,"type":40},"2022-11-04",{"date":146,"type":40},"2022-06-01",{"date":148,"type":20},"2027-10-01",{"name":150,"class":47},"University Medical Center Groningen",2]