[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"tuberous-sclerosis-complex\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:tuberous-sclerosis-complex":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,49,88,116,146],{"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":29,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":38,"lastUpdatePostDateStruct":39,"startDateStruct":42,"completionDateStruct":44,"leadSponsor":46,"locationsCount":4},"100645336","phase-2-a-phase-2-study-of-the-safety-and-efficacy-of-av078-in-participants-with-tuberous-sclerosis-complex-tsc-refractory-epilepsy-100645336",false,"NCT07680322","A Phase 2 Study of the Safety and Efficacy of AV078 in Participants With Tuberous Sclerosis Complex (TSC) Refractory Epilepsy","A Parallel-Group, Phase 2, Double-Blind, Placebo-Controlled, Randomized Study of the Safety and Efficacy of Oral AV078 in Participants With Tuberous Sclerosis Complex (TSC) Refractory Epilepsy","RESTOR-1","Key Inclusion Criteria:\n\n* Participants aged 12 years and above.\n* Diagnosis of TSC based on International TSC Consensus Group criteria.\n* History of failure to adequately control seizures despite having been treated by two or more regimens of anti-seizure medications (ASMs).\n* Receiving a stable dose of ASMs for at least 4 weeks at the start of the Screening Period and for the duration of the study.\n\nKey Exclusion Criteria:\n\n* History of any infection requiring use of antibiotics within the last four weeks.\n* Current or history of any clinically significant mental or physical illness or condition other than TSC that the Investigator believes would create significant risk for participation in the study.\n* Recent epilepsy surgery\u002Fmajor surgery or planned surgery during the study.\n* Treatment with medicines which act in a similar way.\n* Treatment with medicines that suppress the immune system.\n* Treatment with medicines that may significantly affect the way the body handles the study drug.","ALL","12 Years",{"count":20,"type":21},42,"ESTIMATED","INTERVENTIONAL",[24],"PHASE2","This Phase 2, randomized, double-blind, placebo-controlled study will evaluate the safety, tolerability, and efficacy of oral AV078 in participants with refractory epilepsy due to tuberous sclerosis complex (TSC). Approximately 42 participants will be randomized in a 5:1 ratio to receive AV078 or placebo.\n\nThe study will include a Screening Period collecting 4 weeks of pre-treatment Baseline data on seizure frequency, and progress to a 12-week Treatment Period, followed by an in person final follow-up visit approximately 2 weeks after the last dose.",[27,28],"Tuberous Sclerosis Complex","Epilepsy",[30,31,32,33,34,35,36],"Tuberous Sclerosis Complex (TSC)","Refractory Epilepsy","Drug-Resistant Epilepsy","Seizures","mTORC1 Inhibitor","AV078","mTOR Pathway","NOT_YET_RECRUITING","2026-06-25",{"date":40,"type":41},"2026-07-02","ACTUAL",{"date":43,"type":21},"2026-09-01",{"date":45,"type":21},"2027-12-21",{"name":47,"class":48},"Aeovian Pharmaceuticals, Inc.","INDUSTRY",{"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":22,"phases":60,"briefSummary":62,"conditions":63,"keywords":71,"overallStatus":76,"whyStopped":4,"lastUpdateSubmitDate":77,"lastUpdatePostDateStruct":78,"startDateStruct":80,"completionDateStruct":82,"leadSponsor":84,"locationsCount":87},"100636151","a-smart-phone-application-to-improve-adoption-of-the-2024-kidney-disease-improving-global-outcomes-kdigo-chronic-kidney-disease-ckd-guidelines-100636151","NCT07561957","A Smart Phone Application to Improve Adoption of the 2024 Kidney Disease Improving Global Outcomes (KDIGO) Chronic Kidney Disease (CKD) Guidelines","A Smart Phone Application to Improve Adoption of the 2024 KDIGO CKD Guidelines","Inclusion Criteria:\n\n* Adults aged ≥16 years.\n* Diagnosed with CKD stages 1-5.\n* Owns a smartphone and is capable of using mobile applications.\n* Provides informed consent.\n\nExclusion Criteria:\n\n* Inability to provide informed consent due to a neurocognitive impairment.\n* Age 30 years or older\n\nThe study will be conducted in the already established SJH Young Adult Clinic, with anticipated expansion coinciding with the co-location Children's Health Ireland (CHI) on site.","16 Years","30 Years",{"count":59,"type":21},80,[61],"NA","The goal of this study is to establish whether use of a digital intervention can improve adherence and alignment with the Kidney Disease: Improving Global Outcomes (KDIGO) Chronic Kidney Disease (CKD) 2024 Guidelines.\n\nA subset of the study will focus on whether the intervention improves outcomes for young adults living with CKD, in the context of the imminent co-location of Children's Health Ireland on the St. James's Hospital campus.\n\nYoung adults with CKD transitioning to adult services are recognised as a high-risk and vulnerable cohort, with many individuals unaware of increased cardiovascular risk and mortality¹². In response, and in the context of the co-location of Children's Health Ireland on the St. James's Hospital site, a young adult nephrology clinic has been established.\n\nThe KDIGO CKD 2024 Guidelines identify transition as a period of increased risk and include recommendations regarding cardiovascular risk factor targets and the use of therapies known to delay CKD progression³.\n\nElectronic communication is a preferred method for accessing health information among many young adults⁴⁵ and aligns with Sláintecare digital health strategies⁶. A recently established, award-winning St. James's Hospital renal smartphone application is currently used by over 3,000 individuals living with CKD.\n\nThe study aims to determine whether use of the application improves adherence to KDIGO guideline recommendations, with the objective of delaying CKD progression and associated complications. The application will support optimisation of care by signposting opportunities for evidence-based interventions (e.g., SGLT2 inhibitors, renin-angiotensin system inhibition) to healthcare providers. The application will also provide participants with tailored recommendations, reminders, educational materials, and collection of patient-reported outcome measures.\n\nDue to the diverse population and range of specialties at St. James's Hospital, the young adult clinic serves distinct subgroups, including individuals with sickle cell anaemia and survivors of cancer and haematological malignancies. These populations will be examined in the context of KDIGO guideline implementation, contributing to a limited international evidence base.\n\nThis research evaluates an intervention designed to improve care for adults living with chronic kidney disease.",[64,65,66,67,68,69,27,70],"Chronic Kidney Disease","Proteinuria","Blood Pressure Control","Congenital Anomalies of the Kidneys and Urinary Tract","Nephrotic Syndrome","Sickle-Cell Nephropathy","Cancer Survivors",[72,73,74,75],"Digital Interventions","Kidney Disease","Paediatric Nephrology","Transitional Nephrology","RECRUITING","2026-04-24",{"date":79,"type":41},"2026-05-01",{"date":81,"type":41},"2026-01-14",{"date":83,"type":21},"2027-06-01",{"name":85,"class":86},"St. James's Hospital, Ireland","OTHER",2,{"id":89,"slug":90,"hasResults":11,"nctId":91,"briefTitle":92,"officialTitle":93,"acronym":4,"eligibilityCriteria":94,"healthyVolunteers":11,"sex":95,"minAge":4,"maxAge":4,"enrollmentInfo":96,"targetDuration":98,"studyType":99,"phases":4,"briefSummary":100,"conditions":101,"keywords":103,"overallStatus":76,"whyStopped":4,"lastUpdateSubmitDate":106,"lastUpdatePostDateStruct":107,"startDateStruct":109,"completionDateStruct":111,"leadSponsor":113,"locationsCount":115},"100528403","tuberous-sclerosis-complex-and-lymphangioleiomyomatosis-pregnancy-registry-tsc-lam-registry-100528403","NCT06160310","Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)","Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry","Inclusion Criteria:\n\n* A pregnant woman with a clinical or genetic diagnosis of TSC as determined by the 2021 Consensus Guidelines (1)\n* A pregnant woman with a diagnosis of LAM\n* A pregnant woman with a variant of uncertain significance in TSC 1 or TSC 2\n* A pregnant woman who is pregnant and the fetus has a 50% chance of TSC as deemed by the PI or Sub-Is\n* A pregnant woman whose fetus is found to have concern for TSC secondary to rhabdomyomas, tubers, or congenital subependymal giant cell astrocytoma.\n* An infant born to an enrolled individual.\n\nExclusion Criteria:\n\n* A pregnant woman without TSC who has used preimplantation genetic testing for TSC unless qualifies under inclusion criteria #4.\n* Infants diagnosed with TSC whose birth mother was not enrolled.","FEMALE",{"count":97,"type":21},300,"5 Years","OBSERVATIONAL","This study is an observational registry designed to gather information about Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) in pregnant women and their child.",[27,102],"Lymphangioleiomyomatosis",[27,104,102,105],"TSC","LAM","2026-01-21",{"date":108,"type":41},"2026-01-23",{"date":110,"type":41},"2023-07-01",{"date":112,"type":21},"2029-07-01",{"name":114,"class":86},"David M. Ritter",1,{"id":117,"slug":118,"hasResults":11,"nctId":119,"briefTitle":120,"officialTitle":120,"acronym":121,"eligibilityCriteria":122,"healthyVolunteers":11,"sex":17,"minAge":123,"maxAge":124,"enrollmentInfo":125,"targetDuration":4,"studyType":22,"phases":127,"briefSummary":128,"conditions":129,"keywords":130,"overallStatus":76,"whyStopped":4,"lastUpdateSubmitDate":136,"lastUpdatePostDateStruct":137,"startDateStruct":139,"completionDateStruct":141,"leadSponsor":143,"locationsCount":145},"100447326","phase-2-stopping-tsc-onset-and-progression-2b-sirolimus-tsc-epilepsy-prevention-study-100447326","NCT05104983","Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study","TSC-STEPS","Inclusion Criteria:\n\n1. 0-6 months of age at the time of enrollment (subject must be \\\u003C7 months of chronological age at time of randomization and treatment initiation). Corrected age must be at least 39 weeks (calculated by subtracting the number of weeks born before 40 weeks gestation from the chronological age).\n2. Has a confirmed diagnosis of TSC based on established clinical or genetic criteria\n\nExclusion Criteria:\n\n1. Prior history of seizures (clinical or electrographic) at the time of enrollment or identified on baseline EEG.\n2. Has been treated in the past or is currently being treated at the time of enrollment with conventional anticonvulsant medications (AEDs), systemic (oral) mTOR inhibitors (such as rapamycin, sirolimus, or everolimus), ketogenic-related special diet, or another anti-seizure therapeutic agent, device, or procedure.\n3. Has taken any other investigational drug as part of another research study, within 30 days prior to the baseline screening visit.\n4. Has a significant illness or active infection at the time of the baseline screening visit\n5. Has a history of significant prematurity, defined as gestational age \\\u003C30 weeks at the time of delivery, or other significant medical complications at birth or during the neonatal period that other than TSC would convey additional risk of seizures or neurodevelopmental delay (i.e. HIE, severe neonatal infection, major surgery, prolonged ventilatory or other life-saving supportive care or procedures).\n6. Abnormal laboratory values at baseline (i.e., renal function, liver function, or bone marrow production) that are in the opinion of the investigator clinically significant and may jeopardize the safety of the study subject.\n7. Prior, planned or anticipated neurosurgery within 3 months of the baseline visit\n8. Has a TSC-associated condition for which mTOR treatment is clinically indicated (i.e. SEGA or AML).\n9. Subjects who are, in the opinion of the investigator, unable to comply with the requirements of the study.","1 Day","6 Months",{"count":126,"type":21},64,[24],"This trial is a Phase II randomized, double-blind, placebo controlled multi-site study to evaluate the safety and efficacy of early sirolimus to prevent or delay seizure onset in TSC infants.\n\nThis study is supported by research funding from the Office of Orphan Products Division (OOPD) of the US Food and Drug Administration (FDA).",[27,28],[27,104,131,132,133,134,135],"epilepsy","prevention","mTOR","sirolimus","infant","2026-01-20",{"date":138,"type":41},"2026-01-22",{"date":140,"type":41},"2021-10-13",{"date":142,"type":21},"2027-06-30",{"name":144,"class":86},"Darcy Krueger",11,{"id":147,"slug":148,"hasResults":11,"nctId":149,"briefTitle":150,"officialTitle":151,"acronym":152,"eligibilityCriteria":153,"healthyVolunteers":11,"sex":17,"minAge":154,"maxAge":155,"enrollmentInfo":156,"targetDuration":4,"studyType":22,"phases":158,"briefSummary":160,"conditions":161,"keywords":162,"overallStatus":76,"whyStopped":4,"lastUpdateSubmitDate":164,"lastUpdatePostDateStruct":165,"startDateStruct":167,"completionDateStruct":169,"leadSponsor":171,"locationsCount":87},"100480337","phase-3-placebo-controlled-study-to-assess-the-efficacy-and-safety-of-rapamycin-in-drug-resistant-epilepsy-associated-with-tuberous-sclerosis-complex-100480337","NCT05534672","Placebo Controlled Study to Assess the Efficacy and Safety of Rapamycin in Drug Resistant Epilepsy Associated With Tuberous Sclerosis Complex","Multicenter, Randomized, Double-blind, Placebo Controlled Study to Assess the Efficacy and Safety of Rapamycin in Drug Resistant Epilepsy Associated With TSC","RaRE-TS","Inclusion Criteria:\n\n* male or female aged from 3 months up to 50 years at the day of randomization\n* patients\u002Fparents\u002Fcaregivers are willing to and able to give informed consent form for the participation in the study\n* patients\u002Fparents\u002Fcaregivers are willing to and able to comply with all study requirements\n* definite diagnosis of TSC according to the Consensus criteria (Northrup, 2013)\n* drug-resistant epilepsy associated with TSC with at least 8 seizures during 4 weeks\n\nExclusion Criteria:\n\n* history of treatment with mTOR inhibitor in the three months prior to screening,\n* history of pseudo-epileptic seizures,\n* history of progressive CNS disease other than TSC\n* recent surgery within 2 weeks prior to the screening\n* severe infection within 2 weeks prior to the screening\n* use of the cannabis derivatives\n* contraindications for MRI or general anesthesia\n* occurrence of the serious comorbidities which, in the opinion of the investigator, may either put a patient at significant risk associated with the participation in the study or may influence the results of the study the investigator\n* pregnancy","3 Months","50 Years",{"count":157,"type":21},200,[159],"PHASE3","The purpose of the RaRE-TS study is to determine safety, tolerability and efficacy of rapamycin versus placebo in a drug resistant epilepsy associated with tuberous sclerosis complex (TSC).",[27],[163],"tuberous sclerosis complex, epilepsy, rapamycin, drug resistant epilepsy","2023-08-07",{"date":166,"type":41},"2023-08-08",{"date":168,"type":41},"2023-01-23",{"date":170,"type":21},"2027-06",{"name":172,"class":86},"Katarzyna Kotulska"]