[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"22q11-deletion-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:22q11-deletion-syndrome":124},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,42,84],{"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":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"100490306","using-transcranial-alternating-current-stimulation-to-improve-executive-function-in-22q112-deletion-syndrome-100490306",false,"NCT05664412","Using Transcranial Alternating Current Stimulation to Improve Executive Function in 22q11.2 Deletion Syndrome","Using Transcranial Alternating Current Stimulation With Starstim Home Device to Improve Executive Function in Youths With 22q11.2 Deletion Syndrome: A Randomized Double-blind Sham-controlled Study","Inclusion Criteria:\n\n* Confirmed genetic diagnosis of 22q11DS\n* Age between 14 and 25 years old\n* Willingness to participate\n* Informed Consent signed by the subject and\u002For the caregiver(s)\n\nExclusion Criteria:\n\n* Epilepsy\n* Deep brain stimulation electrodes\n* Traumatic brain injury\n* Facial metal implants","ALL","14 Years","25 Years",{"count":20,"type":21},40,"ESTIMATED","INTERVENTIONAL",[24],"NA","The purpose of this project is to explore the effects of transcranial alternating current stimulation (tACS) in children, adolescents and young adults with a 22q11.2 microdeletion. The main aim of the present research project is to investigate the effects of repeated, individually tuned high-density (HD) tACS on cognition (i.e., WM performance) and related neuroimaging markers in carriers of the 22q11DS. As cognitive deficits, most notably WM impairment, are among the earliest signs of psychotic disorders, interventions during adolescence aimed at reducing cognitive decline in at-risk individuals may prove effective in delaying or even preventing the later emergence of psychotic symptoms.",[27,28],"22Q11 Deletion Syndrome","tACS","RECRUITING","2025-12-01",{"date":32,"type":33},"2025-12-02","ACTUAL",{"date":35,"type":33},"2023-10-20",{"date":37,"type":21},"2026-12-31",{"name":39,"class":40},"Stephan Eliez","OTHER",1,{"id":43,"slug":44,"hasResults":11,"nctId":45,"briefTitle":46,"officialTitle":47,"acronym":48,"eligibilityCriteria":49,"healthyVolunteers":11,"sex":16,"minAge":50,"maxAge":51,"enrollmentInfo":52,"targetDuration":4,"studyType":22,"phases":54,"briefSummary":56,"conditions":57,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":74,"lastUpdatePostDateStruct":75,"startDateStruct":77,"completionDateStruct":79,"leadSponsor":81,"locationsCount":83},"100522340","phase-2-sertraline-vs-placebo-in-the-treatment-of-anxiety-in-children-and-adolescents-with-neurodevelopmental-disorders-100522340","NCT06081348","Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders","A Randomized Placebo-Controlled Trial of Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders","CALM","Inclusion Criteria:\n\n1. Outpatients 8-17 years of age, inclusive\n2. Females of child bearing potential who are sexually active and agree to use medically acceptable birth control throughout the study and at least one week post last dose of study drug.\n3. Meet Diagnostic and Statistical Manual of Mental Disorders - DSM-5 criteria for ASD, ADHD, Tic Disorders, or genetic diagnosis of Fragile X, tuberous sclerosis or 22q11 deletions.\n4. Meet DSM-5 criteria for one of the following anxiety disorders: Separation Anxiety Disorder, Social Anxiety Disorder, Agoraphobia, Generalized Anxiety Disorder, or Unspecified Anxiety Disorder, based on expert clinical interview, supported by the Kiddie Schedule for Affective Disorders and Schizophrenia (KSADS; Kaufman et al., 2016). Other specified anxiety disorder is included to account for youth with impairing anxiety symptoms who may not meet criteria for one of the other anxiety disorders.\n5. Have a Clinician's Global Impression-Severity for anxiety (CGI-S; Guy, 1976)) score ≥ 4 (moderately ill) (inter-rater reliability will be done prior to initiation of enrollment, using videotapes of interviews and vignettes)\n6. Have at least phrase speech, to allow for some self-report. So that results can be generalized to children and youth with NDD and various levels of ability, no IQ cut-off will be employed. Full-scale IQ (as measured by the Stanford-Binet) is measured to explore its effect on efficacy and safety\\*\n7. If already receiving interventions, must meet the following criteria:\n\n   1. If receiving concomitant medications affecting behaviour, must be on a stable dose during the month prior to screening and will not electively modify ongoing medications for study duration\n   2. If already receiving stable non-pharmacological behavioural interventions, have stable participation during 3 months prior to screening, and will not electively modify ongoing interventions\n8. Ability to complete assessments in English\u002FFrench\n\nExclusion Criteria:\n\n1. Receiving other SSRIs within four weeks of randomization (6 weeks for fluoxetine)\n2. Previous treatment with sertraline, at an adequate dose (at least 100mg for 6 weeks, or lower dose and duration if not well-tolerated), associated with no response or significant-to-the-participant side effects.\n3. Received more than 2 previous appropriate trials of SSRIs with no adequate response\n4. Pregnant females or sexually active females on inadequate contraception\n5. Serious medical condition that, based on Investigator judgment, might interfere with the conduct of the study, confound interpretation of the study results, or endanger participant. In addition diabetic patients on medications for glycemic control will be excluded as sertraline may interfere with glycemic control.\n6. Hypersensitivity to sertraline or any components of its formulation\n7. On Monoamine Oxidase Inhibitors or pimozide (as per product monograph)\n8. On concomitant medications known to significantly increase QT interval where this would result in unacceptable risk per Investigator judgment.\n9. Known congenital QT prolongation\n10. HIV, hepatitis B or C, hemophilia, abnormal blood pressure, substance abuse, immunity disorder, major depressive episode or psychosis (as required by Health Canada)\n11. Unable to tolerate venipuncture\n12. Unable to swallow capsules\n13. Enrolled in another intervention study","8 Years","17 Years",{"count":53,"type":21},130,[55],"PHASE2","There are currently no approved medications for the treatment of anxiety in children and youth with neurodevelopmental disorders (NDDs), both common and rare. Sertraline, a selective serotonin reuptake inhibitor, has extensive evidence to support its use in children's and youth with anxiety but not within NDDs. More research is needed to confirm whether or not sertraline could help improve anxiety in children and youth with common and rare neurodevelopmental conditions. This is a pilot study, in which we plan to estimate the effect size of reduction in anxiety of sertraline vs. placebo. across rare and common neurodevelopmental disorders, and determine the best measure(s) to be used as a primary transdiagnostic outcome measure of anxiety, as well as diagnosis specific measures in future, larger-scale clinical trials of anxiety in NDDs.",[58,59,60,61,62,27,63,64,65,66,67,68,69,70,71,72,73],"Neurodevelopmental Disorders","Autism","Autism Spectrum Disorder","Fragile X Syndrome","Tuberous Sclerosis","22Q11 Deletion","ADHD","Tic Disorders","Tourette Syndrome","Tourette Syndrome in Children","Tourette Syndrome in Adolescence","ADHD - Combined Type","ADHD Predominantly Inattentive Type","ADHD, Predominantly Hyperactive - Impulsive","Anxiety","Anxiety Disorders","2025-07-14",{"date":76,"type":33},"2025-07-16",{"date":78,"type":33},"2024-09-16",{"date":80,"type":21},"2026-09",{"name":82,"class":40},"Holland Bloorview Kids Rehabilitation Hospital",8,{"id":85,"slug":86,"hasResults":11,"nctId":87,"briefTitle":88,"officialTitle":89,"acronym":90,"eligibilityCriteria":91,"healthyVolunteers":11,"sex":16,"minAge":92,"maxAge":4,"enrollmentInfo":93,"targetDuration":4,"studyType":95,"phases":4,"briefSummary":96,"conditions":97,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":130,"lastUpdatePostDateStruct":131,"startDateStruct":133,"completionDateStruct":135,"leadSponsor":137,"locationsCount":41},"100398068","growing-up-with-rare-genetic-syndromes-100398068","NCT04463316","GROWing Up With Rare GENEtic Syndromes","GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age","GROW UR GENES","Inclusion Criteria:\n\n* Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center.\n\nExclusion Criteria:\n\n* None","18 Years",{"count":94,"type":21},600,"OBSERVATIONAL","Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.\n\nIncreased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.\n\nMedical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.\n\nThe aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:\n\n1. comorbidities\n2. medical and their impact on quality of life\n3. medication use\n4. the need for adaption of medication dose according to each syndrome\n\nMethods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.",[98,99,100,101,102,103,104,105,106,107,108,109,62,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129],"Prader-Willi Syndrome","PWS-like Syndrome","Silver Russel Syndrome","Congenital Hypopituitarism","Klinefelter (XXY-)Syndrome","Congenital Adrenal Hyperplasia","XXXXY Syndrome","XXYY Syndrome","XXXX Syndrome (Tetra-X Syndrome)","Disorders of Sex Development","Turner Syndrome","46, XY DSD","Neurofibromatosis","Albright Hereditaire Osteodystrofie","Cornelia de Lange Syndrome","Saethre-Chotzen Syndrome","17p- Deletiesyndrome","VCF Syndrome","POLR3A Mutatie","Ohdo Syndrome","Jacobsen Syndrome \u002F 11 q Syndrome","Myrhe Syndrome","CHARGE Syndrome","1q25-32 Deletie","Bardet Biedl Syndrome","Rett Syndrome","22q11 Deletion Syndrome","Allan-Herndon-Dudley Syndrome","Kallmann Syndrome","Rare Bone Disorders","Noonan Syndrome","Williams-Beuren Syndrome","2023-09-04",{"date":132,"type":33},"2023-09-06",{"date":134,"type":33},"2018-10-01",{"date":136,"type":21},"2030-01-01",{"name":138,"class":40},"dr. Laura C. G. de Graaff-Herder"]