[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"spironolactone\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:spironolactone":29},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"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":26,"conditions":27,"keywords":4,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":33,"startDateStruct":36,"completionDateStruct":38,"leadSponsor":40,"locationsCount":5},"100568243","phase-2-spironolactone-improved-children-with-gene-mutations-related-to-ncor-100568243",false,"NCT06678685","Spironolactone Improved Children With Gene Mutations Related to NCOR","An Exploratory Study of Spironolactone Tablets for the Treatment of Children With Gene Mutations Related to NCOR","Inclusion Criteria:\n\n1. ADOS-2 diagnostic criteria for autistic children\n2. Patients with NCOR related gene mutation detected by whole exon test;\n3. Age: 3-10 years old;\n4. The subject and (or) guardian sign the informed consent, agreeing that the researcher will cooperate with the clinical trial process and collect clinical data and peripheral blood and urine samples;\n\nExclusion Criteria:\n\n1. have other pathogenic mutations (confidence higher than the NCOR related mutation);\n2. Boys over 10 years old;\n3. Allergic to spironolactone, used spironolactone one month before enrollment;\n4. Hyperkalemia, serum potassium concentration \\> 5.5mmol\u002FL;\n5. Renal insufficiency;\n6. Used related drugs one month before enrollment: potassium supplement, angiotensin-converting enzyme inhibitor, angiotensin receptor blocker, digoxin, coletenamine, acetylsalicylic acid, abiraterone;\n7. Fever (body temperature above 37.3°);\n8. Clinically significant metabolic, hematological, liver, immune, urological, endocrine, neurological, pulmonary, psychiatric, skin, allergic, renal, or other major conditions in the determination of ASD that may affect the interpretation of study findings or patient safety.","ALL","3 Years","10 Years",{"count":20,"type":21},2,"ESTIMATED","INTERVENTIONAL",[24,25],"PHASE2","PHASE3","MECP2, a key transcriptional regulator, has been shown to interact with the NCOR1\u002F2 complex to modulate gene expression. Specifically, MECP2 recruits the NCOR complex to specific genomic loci, facilitating histone deacetylation and chromatin remodeling, which are essential for the proper regulation of genes involved in synaptic function and neuronal maturation. Disruptions in the MECP2-NCOR interaction have been implicated in neurodevelopmental disorders, including Rett syndrome and autism spectrum disorder (ASD), highlighting the collaborative role of MECP2 and the NCOR1\u002F2 complex in maintaining neuronal homeostasis.\n\nBuilding on this, NCOR1\u002F2 constitutes the NCOR complex,interacts with many different nuclear receptors to produce special physiological effects. The receptors further recruit epigenome-modifying enzymes that are involved in the transcription of multiple genes involved in neurotransmission and synaptic plasticity. Studies of mice with gene knockout and autistic with NCOR mutations have found that both exhibit clinical symptoms characteristic of ASD, such as deficits in social interaction, spatial learning, and impaired recognition memory. Further study revealed that the cause was the hyperexcitability of GABAergic neurons in the lateral hypothalamus (LH) due to the NCOR1\u002F2 defect, which impaired synaptic plasticity in the hippocampal CA3 region through the single synaptic LHGABA-CA3 neural projection, and thus exhibited learning\u002Fmemory impairment. Therefore, drugs that affect the NCOR receptor can improve learning\u002Fmemory impairment by affecting GABA neurons. Spironolactone is a widely used diuretic with good safety. Spironolactone is widely used in the treatment of hypertension, edema, and anti-androgen therapy in children. Spironolactone is currently under investigation as a potential treatment for children with NCOR gene mutations. Preclinical studies have demonstrated that spironolactone can ameliorate ASD-related symptoms in NCOR mutant mice, including reduced sensorimotor capacity, learning disability, and impaired working memory. Furthermore, the efficacy of related diuretics in the treatment of ASD has been demonstrated clinically. Therefore, spironolactone may represent a novel therapeutic target for patients with NCOR-related gene mutations in the future.",[28,29,30],"NCOR Gene Mutations","Spironolactone","ASD","RECRUITING","2026-05-14",{"date":34,"type":35},"2026-05-18","ACTUAL",{"date":37,"type":35},"2024-10-30",{"date":39,"type":21},"2027-12-30",{"name":41,"class":42},"Qilu Hospital of Shandong University","OTHER"]