[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"cdkl5-deficiency-disorder\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:cdkl5-deficiency-disorder":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,45,69],{"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":23,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":4},"100637265","efficacy-and-safety-of-daily-home-based-hyperthermic-baths-for-reducing-epileptic-seizures-in-cdkl5-deficiency-disorder-a-probe-clinical-trial-100637265",false,"NCT07602205","Efficacy and Safety of Daily Home-based Hyperthermic Baths for Reducing Epileptic Seizures in CDKL5 Deficiency Disorder: A PROBE Clinical Trial","Efficacy and Safety of Daily Home-based Hyperthermic Baths for Reducing Epileptic Seizures in CDKL5 Deficiency Disorder: A Prospective, Randomized, Parallel-Controlled, Open-Label, Blinded Endpoint (PROBE) Clinical Trial","Inclusion Criteria:\n\n1. A diagnosis of CDKL5 deficiency disorder, including molecular confirmation of a pathogenic CDKL5 variant and exhibiting epileptic seizures.\n2. Male or female participants aged 6 months to 14 years, inclusive.\n3. Patients presenting with drug-resistant epilepsy that seizures were uncontrolled despite the appropriate trial of at least two antiseizure medications (ASMs).\n4. At least 8 motor seizures during each 4 weeks in the 8-week historical seizure records preceding screening.\n5. Treatment regimens of 0-4 ASMs were required to be stable for at least 4 weeks before screening and throughout the intervention. Ongoing ketogenic diets were allowed if remain unchanged during screening and treatment.\n6. Subjects who have undergone surgical implantation of vagus nerve stimulation (VNS) will be eligible for inclusion in the study, provided they meet all of the following criteria:\n\n   1. The VNS device has been in place for at least one year prior to the screening visit;\n   2. The stimulation parameters remain unchanged throughout the duration of the trial.\n7. Parents or caregivers must be able and willing to maintain an accurate and comprehensive daily electronic seizure diary throughout the duration of the study.\n8. Participants' legal guardians willing to provide written informed consent.\n\nExclusion Criteria:\n\n1. Patients who had any history of previous brain disease (including trauma, encephalitis, etc.) that were likely to precipitate seizures; defined by MRI outcomes.\n2. Participants with skin ulceration or dermatologic conditions that make bathing unsuitable.\n3. Parents or guardians who, based on past experiences, determine that the child has an intolerance to thermal baths.\n4. A history of seizures induced by thermal baths, or an increase in seizure frequency after thermal baths.\n5. Patients who presented any clinical condition that in the opinion of the principal investigator made the patient not suitable to participate in the survey.","ALL","6 Months","14 Years",{"count":20,"type":21},34,"ESTIMATED","INTERVENTIONAL",[24],"NA","The primary objective of this research is to study the efficacy and safety of daily, home-based hyperthermic baths for reducing epileptic seizures in CDKL5 Deficiency Disorder.",[27],"CDKL5 Deficiency Disorder",[27,29,30,31,32],"fever","epilepsy","home-based hyperthermic baths","genotype-phenotype","NOT_YET_RECRUITING","2026-05-15",{"date":36,"type":37},"2026-05-22","ACTUAL",{"date":39,"type":21},"2026-08-01",{"date":41,"type":21},"2027-12-31",{"name":43,"class":44},"Xuanwu Hospital, Beijing","OTHER",{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":50,"acronym":4,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":52,"enrollmentInfo":53,"targetDuration":4,"studyType":22,"phases":55,"briefSummary":57,"conditions":58,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":59,"lastUpdatePostDateStruct":60,"startDateStruct":62,"completionDateStruct":64,"leadSponsor":66,"locationsCount":4},"100458433","phase-3-double-blind-randomized-placebo-controlled-trial-of-ganaxolone-in-cdkl5-deficiency-patients-6-months-to-less-than-2-years-old-100458433","NCT05249556","Double-blind, Randomized, Placebo-controlled Trial of Ganaxolone in CDKL5 Deficiency Patients 6 Months to Less Than 2 Years Old","Double-blind, Randomized, Placebo-controlled Trial of Adjunctive Ganaxolone in the Treatment of Seizures Associated With Genetically Confirmed Cyclin-dependent Kinase-like 5 (CDKL5) Deficiency Disorder (CDD) in Pediatric Patients From 6 Months to Less Than 2 Years of Age.","Inclusion Criteria:\n\n1. A diagnosis of CDD, including molecular confirmation of a pathogenic or likely pathogenic CDKL5 variant and refractory seizures (see Inclusion criterion 5).\n\n   1. The principal investigator (PI) must review the results of the genetic analysis and confirm that gene mutation is likely to be the cause of the epilepsy syndrome.\n   2. If the participant has a de novo variant of unknown significance (VUS) in the kinase domain of the CDKL5 gene, parental testing is negative and meets all other inclusion criteria, then the participant can be included.\n   3. Genetic mutations will be confirmed by the sponsor's chosen central laboratory. In France, genetic mutations may be confirmed by an approved French organization, in compliance with French legislation prior to Screening\u002FVisit 1.\n2. Male or female participants aged 6 months to less than 2 years.\n3. Parent(s) or LAR willing to give written informed consent, after being properly informed of the nature and risks of the study and prior to engaging in any study-related procedures.\n4. Failure to control seizures despite appropriate trial of 1 or more anti-seizure medications at therapeutic doses.\n5. Have a history of at least 8 countable seizures during the 28 days prior to screening. Countable seizures will be defined by the following:\n\n   1. Seizures with or without impairment of consciousness with a clear motor component, including generalized tonic-clonic, focal to bilateral tonic-clonic, atonic, bilateral clonic, bilateral tonic, focal motor seizures with or without impaired awareness, or infantile spasms. Clusters of infantile spasms\u002Ftonic seizures will be counted as a single seizure.\n   2. Excludes myoclonic, absence or focal aware seizures without a clear motor component.\n6. Participants should be on a stable regimen of anti-seizure medications for ≥ 2 weeks prior to the screening visit, without a foreseeable change in dosing for the duration of the DB phase.\n\n   1. Concurrent use of adrenocorticotropic hormone (ACTH), prednisone or other glucocorticoids or vigabatrin are permitted.\n   2. Vagus nerve stimulator (VNS) settings, ketogenic diet, or a modified Atkins diet should be unchanged for 1 month prior to screening and throughout the study (until the end of the DB phase).\n7. Use of dietary supplements or herbal preparations is permitted if the participant has been using them consistently for more than 1 month prior to screening and there is no plan on changing the dose for the duration of the DB phase.\n8. Parent\u002Fcaregiver is able and willing to maintain an accurate and complete daily seizure eDiary for the duration of the study.\n9. Able and willing to administer IP with food 3 times daily.\n\nExclusion Criteria:\n\n1. Have an active CNS infection, demyelinating disease, degenerative neurological disease, or CNS disease deemed progressive as evaluated by brain imaging (magnetic resonance imaging \\[MRI\\]).\n2. Have any disease or condition (medical or surgical; other than CDKL5 deficiency) at screening that might compromise the hematologic, cardiovascular, pulmonary, renal, gastrointestinal, or hepatic systems; or other conditions that might interfere with the absorption, distribution, metabolism, or excretion of the IP, or would place the participant at increased risk.\n3. Has a positive result for tetrahydrocannabinol (THC) test (via urine or plasma drug screen) at the screening visit. Concomitant Epidiolex\u002FEpidyolex (cannabidiol derivative \\[CBD\\]) use will be allowed in the DB phase provided the participant has been on a stable dose for at least 1 month prior to screening and is expected to remain on a stable dose without a foreseeable change for the duration of the DB phase.\n4. Use of a CBD preparation other than Epidiolex\u002FEpidyolex for 1 month prior to screening.\n5. An AST (aspartate aminotransferase\u002Fserum glutamic-oxaloacetic transaminase \\[SGOT\\]) or ALT (alanine aminotransferase\u002Fserum glutamic-pyruvic transaminase \\[SGPT\\]) \\> 3 times the upper limit of normal (ULN) at study entry. If AST or ALT increases \\> 3 X ULN during the study, the participant should be followed with weekly laboratory repeat testing and continue in study if levels trending down. The participant will be discontinued if levels do not decline to \\\u003C 3 X ULN.\n6. Total bilirubin levels greater than the ULN at study entry. In cases of a documented, stable medical condition (ie, Gilbert's Syndrome) resulting in levels of total bilirubin greater than the ULN, the medical monitor can determine if a protocol exception can be made. If total bilirubin increases to 1.5 x the ULN or more during study, the participant will be discontinued.\n7. Participants with significant renal insufficiency, with an estimated glomerular filtration rate (eGFR) \\\u003C 30 mL\u002Fmin (calculated using the Cockcroft-Gault formula or Pediatric GFR calculator or Bedside Schwartz).\n8. Using St. John's Wort.\n9. Have been exposed to any other investigational drug within 30 days or less than 5 half-lives prior to screening.\n10. Known allergic reaction or sensitivity to GNX or its excipients.\n11. Participating in any other study involving administration of an investigational medication or device.","2 Years",{"count":54,"type":21},20,[56],"PHASE3","This study will assess the efficacy, safety, and tolerability of ganaxolone (GNX) compared with placebo (PBO) as adjunctive therapy to the participant's standard anti-epileptic medication for the treatment of seizures in pediatric patients from 6 months to less than 2 years old with genetically confirmed CDD during a 12-week, DB phase. Pharmacokinetic (PK) assessments and population PK analyses will also be performed during this time. The DB phase will be followed by an optional long-term OL phase at which time all participants will receive GNX as an adjunct to their standard anti-seizure medication. Efficacy, safety and tolerability, and PK assessments will continue to be performed.",[27],"2025-11-21",{"date":61,"type":37},"2025-11-28",{"date":63,"type":21},"2026-06",{"date":65,"type":21},"2028-09",{"name":67,"class":68},"Immedica Pharma AB","INDUSTRY",{"id":70,"slug":71,"hasResults":11,"nctId":72,"briefTitle":73,"officialTitle":74,"acronym":75,"eligibilityCriteria":76,"healthyVolunteers":11,"sex":16,"minAge":77,"maxAge":78,"enrollmentInfo":79,"targetDuration":4,"studyType":81,"phases":4,"briefSummary":82,"conditions":83,"keywords":4,"overallStatus":86,"whyStopped":4,"lastUpdateSubmitDate":87,"lastUpdatePostDateStruct":88,"startDateStruct":90,"completionDateStruct":92,"leadSponsor":94,"locationsCount":96},"100482157","international-cdkl5-clinical-research-network-100482157","NCT05558371","International CDKL5 Clinical Research Network","Multi-Site Validation of Biomarkers and Core Clinical Outcome Measures for Clinical Trials Readiness in CDKL5 Deficiency Disorder","ICCRN","Inclusion Criteria:\n\n* All children diagnosed with CDD age 1-month to 100 years of age that are receiving care at one of the study institutions or are registered with the International CDKL5 Disorder Database will be considered for the study population.\n\nExclusion Criteria:\n\n* Individuals who do not meet study inclusion criteria.","1 Month","100 Years",{"count":80,"type":21},1000,"OBSERVATIONAL","Pathogenic variants in the Cyclin-dependent kinase like 5 (CDKL5) gene cause CDKL5 deficiency disorder (CDD, MIM 300672, 105830), a severe developmental and epileptic encephalopathy associated with cognitive and motor impairments and cortical visual impairment. While capability for disease modifying therapies is accelerating, there is a critical barrier for clinical trial readiness that may result in failure of these therapies, not due to lack of efficacy but due to lack of validated outcome measures and biomarkers. The measures and biomarkers validated here will be adaptable to other developmental and epileptic encephalopathies.",[84,27,85],"CDKL5","CDD","RECRUITING","2023-12-05",{"date":89,"type":37},"2023-12-06",{"date":91,"type":37},"2021-02-15",{"date":93,"type":21},"2027-02-15",{"name":95,"class":44},"University of Colorado, Denver",9]