[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"fragile-x-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:fragile-x-syndrome":29},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,14,0,[8,54,81,133,168,188,207,237,273,302,339,360,383,413],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":30,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":42,"lastUpdatePostDateStruct":43,"startDateStruct":46,"completionDateStruct":48,"leadSponsor":50,"locationsCount":53},"100641333","phase-2-safety-tolerability-and-preliminary-effectiveness-of-cth120-in-fragile-x-syndrome-100641333",false,"NCT07654114","Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome","Evaluation of the Safety, Tolerability, and Effectiveness of CTH120 in Adult Males With Fragile X Syndrome","FXS-CTH120-01","Inclusion Criteria:\n\n1. Adult male participants.\n2. Aged ≥ 18 and ≤ 45 years.\n3. Weight ≥ 50 kg and ≤ 100 kg.\n4. Body mass index (BMI) ≥ 18.5 and ≤ 32.\n5. Clinical and molecular diagnosis of Fragile X syndrome (\\> 200 CGG repeats in the promoter region of the FMR1 gene).\n6. Participants must have a parent, or other reliable caregiver, who agrees to accompany the participant to all study visits, provide information about the participant as required by the protocol, and ensure compliance with study tests.\n7. Legal representative understands and accepts the study procedures. If only one parent signs, he\u002Fshe should confirm that the other parent does not object to the patient's participation in the study.\n8. Participant assenting and\u002For willing to participate.\n9. Signed informed consent by legal representative prior to any study-mandated procedure.\n10. Participant with a CGI-S score ≥ 3 evaluated by a clinician with experience on Fragile X syndrome, independently mobile and having sufficient vision and hearing to participate in study evaluations. They must be able to be understood most of the time and must not depend upon other forms of communication, signs, symbol boards or devices as their primary form of communication.\n11. Participants are expected to complete all procedures scheduled during the study visits.\n12. VCI scaled score \\>4 on the WISC-V, based on mental age.\n\nExclusion Criteria:\n\n1. Personal history of infantile spasms\u002Fconvulsions\u002Fepilepsy, severe head trauma or CNS infections (e.g. meningitis), except for infantile febrile seizures.\n2. Participants with a current diagnosis of severe (Level 3) autism spectrum disorder or any primary psychiatric diagnosis according to DSM-5 (Diagnostic and Statistical Manual of Mental Disorders-DSM-5). Diagnoses that are secondary, such as attention deficit hyperactivity disorder, depressive disorders, anxiety disorders and conduct disorders are allowed if they are considered to not interfere with study conduct and are stable during the 8 weeks prior to screening. Related allowed treatments must be on stable dosing for the last 3 months.\n3. Substance use disorder according to the DSM-5 criteria.\n4. Epileptiform abnormalities on EEG (excluding isolated sharp waves and beyond those expected for age).\n5. Any life-threatening medical disease.\n6. Any other clinically relevant concomitant disease or condition or finding at screening that in the judgment of the investigator could interfere with the treatment, the conduct of the study and related procedures and\u002For might bias the study results interpretation or could jeopardize the participant's safety.\n7. Any clinically significant findings on physical examination including clinically significant vital sign abnormalities, from the perspective of the investigator.\n8. Any clinically significant laboratory or ECG abnormalities, from the perspective of the investigator, at Screening and\u002For prior to the initiation of the study medication.\n9. Known hypersensitivity or intolerance to any component of the investigational medicinal product or its excipients.\n10. Neuroleptic or antidepressant (SSRI) drugs within the 8 weeks prior to screening, except for sertraline at maximum 100 mg\u002Fday, and with no changes in the 8 weeks prior the initiation of the study.\n11. More than 3 psychotropic medications simultaneously in the 8 weeks prior to Screening and also during the study.\n12. Any new prescription or over the counter drug (except occasional use of paracetamol) in the last 2 weeks before Day 1.\n13. Participation in a clinical study with investigational treatments in the last 8 weeks prior to screening.\n14. Auditory or visual impairments that cannot be corrected.\n15. Positive EtG\u002FEtS test in urine.\n16. Positive drug test in urine.","MALE","18 Years","45 Years",{"count":21,"type":22},30,"ESTIMATED","INTERVENTIONAL",[25],"PHASE2","The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.",[28,29],"Fragile X Syndrome (FXS)","Fragile X Syndrome",[29,31,32,33,34,35,36,37,38,39,40],"FXS","Fragile X","Neureodevelopmental Disorders","Central Nervous System Diseases","Intellectual Disability","Neurobehavioral Manifestations","Genetic Diseases, X linked","Congenital Abnormalities","Orphan Diseases","Rare Diseases","RECRUITING","2026-06-12",{"date":44,"type":45},"2026-06-17","ACTUAL",{"date":47,"type":45},"2026-05-21",{"date":49,"type":22},"2027-05",{"name":51,"class":52},"Connecta Therapeutics, S.L.","INDUSTRY",2,{"id":55,"slug":56,"hasResults":11,"nctId":57,"briefTitle":58,"officialTitle":59,"acronym":4,"eligibilityCriteria":60,"healthyVolunteers":11,"sex":17,"minAge":61,"maxAge":19,"enrollmentInfo":62,"targetDuration":4,"studyType":23,"phases":64,"briefSummary":65,"conditions":66,"keywords":67,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":71,"lastUpdatePostDateStruct":72,"startDateStruct":74,"completionDateStruct":76,"leadSponsor":78,"locationsCount":80},"100609046","phase-2-study-of-mrm-3379-in-male-participants-with-fragile-x-syndrome-bloom-100609046","NCT07209462","Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM)","Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study of MRM-3379 in Male Participants With Fragile X Syndrome","Inclusion Criteria:\n\n* Willing and able to provide signed informed consent\u002Fassent. Where local regulations permit inclusion of participants deemed unable to provide informed consent, a legally authorized representative must provide informed consent on the participant's behalf, and the participant must provide assent if applicable.\n* Male, 13-45 years of age (inclusive)\n* Weight ≥30 kg and BMI between 18 and 36 kg\u002Fm2 (inclusive) at the screening visit\n* Diagnosis of FXS with a molecular genetic ≥200 CGG repetitions .\n* Able to perform the PVT and ORRT of the NIH-TCB\n* Have a consistent caregiver(s) who is willing and able to be present regularly and reliably with the participant\n* Able to swallow tablets or capsules\n\nExclusion Criteria:\n\nHistory of or current medical condition other than FXS and related issues that would place the participant at higher risk from study participation","13 Years",{"count":63,"type":22},60,[25],"This study is a multicenter, double-blind, randomized, placebo-controlled study to assess the safety and tolerability of 3 doses of MRM-3379 in male participants with Fragile X Syndrome ages 16 to 45 (inclusive). In addition, a parallel cohort of participants ages 13 to \\\u003C16 will receive open-label MRM-3379. All participants will participate for 12 weeks of treatment. The study is also intended as a proof-of-concept investigation to evaluate whether MRM-3379 can improve FXS symptoms",[29],[29,31,68,69,70],"FMR","Phosphodiesterase 4","PDE4","2026-06-11",{"date":73,"type":45},"2026-06-15",{"date":75,"type":45},"2025-11-22",{"date":77,"type":22},"2027-10",{"name":79,"class":52},"Mirum Pharmaceuticals, Inc.",15,{"id":82,"slug":83,"hasResults":11,"nctId":84,"briefTitle":85,"officialTitle":86,"acronym":87,"eligibilityCriteria":88,"healthyVolunteers":11,"sex":89,"minAge":18,"maxAge":4,"enrollmentInfo":90,"targetDuration":4,"studyType":92,"phases":4,"briefSummary":93,"conditions":94,"keywords":109,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":123,"lastUpdatePostDateStruct":124,"startDateStruct":126,"completionDateStruct":128,"leadSponsor":129,"locationsCount":132},"100527411","development-of-non-invasive-prenatal-diagnosis-for-single-gene-disorders-100527411","NCT06147414","Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders","Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders","DANNIgene","Inclusion Criteria:\n\n* pregnant woman with 9 weeks of amenorrhea or more\n* singleton pregnancy\n* undergoing invasive PND in a context of family history of SGD involving the following genes : HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1, or undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK\n* germinal pathogenic paternal and\u002For maternal mutations previously identified\n* age 18 years old or over\n* signing an informed consent\n\nExclusion Criteria:\n\n* at risk of SGD involving a de novo pathogenic mutation in a previous child\n* woman under legal protection","FEMALE",{"count":91,"type":22},550,"OBSERVATIONAL","Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting.\n\nThe present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.",[95,96,97,29,98,99,100,101,102,103,104,105,106,107,108],"Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including","Sickle Cell Disease","Cystic Fibrosis","Proximal Spinal Muscular Atrophy","Myotonic Dystrophy","Muscular Dystrophy, Duchenne","Muscular Dystrophy, Becker","Neurofibromatosis-Noonan Syndrome","Huntington Disease","Hemophilia A","Hemophilia B","MODY2 Diabetes","X-Linked Hydrocephalus","Autosomal Recessive Polycystic Kidney Disease",[110,111,112,113,114,115,116,117,118,119,120,121,122],"Gene HBB","Gene CFTR","Gene FMR1","Gene SMN1","Gene DMPK","Gene DMD","Gene NF1","Gene HTT","Gene F8","Gene F9","Gene GCK","Gene L1CAM","Gene PKHD1","2026-04-20",{"date":125,"type":45},"2026-04-23",{"date":127,"type":45},"2024-10-23",{"date":49,"type":22},{"name":130,"class":131},"Assistance Publique - Hôpitaux de Paris","OTHER",1,{"id":134,"slug":135,"hasResults":11,"nctId":136,"briefTitle":137,"officialTitle":138,"acronym":139,"eligibilityCriteria":140,"healthyVolunteers":141,"sex":142,"minAge":143,"maxAge":144,"enrollmentInfo":145,"targetDuration":4,"studyType":23,"phases":147,"briefSummary":149,"conditions":150,"keywords":154,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":159,"lastUpdatePostDateStruct":160,"startDateStruct":162,"completionDateStruct":164,"leadSponsor":166,"locationsCount":132},"100533589","alpha-auditory-entrainment-for-cognitive-enhancement-and-sensory-hypersensitivity-in-youth-with-developmental-disorders-100533589","NCT06227780","Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders","FX ENTRAIN: Perturbation of Neurodynamics Underlying Sensory Hyperarousal and Statistical Learning in Youth With FXS","ENTRAIN","Inclusion Criteria:\n\n* FXS Cohort: 1) Aged 5-10 years, inclusive; 2) Patient has full FMR1 mutation confirmed by genetic testing.\n* ASD Cohort: 1) Aged 5-10 years, inclusive; 2) Have no known genetic mutation; 3) Have documentation of ASD diagnosis; 4) Score ≤ 15 on SCQ screen; 5) Be in good health per investigator.\n* TDC Cohort: 1) Aged 5-10 years, inclusive; 2) Have no known genetic mutation; 3) Have documentation of ASD diagnosis; 4) Score ≤ 15 on SCQ screen; 5) Be in good health per investigator; 6) Patient has met normal developmental milestones; Patient has no family history of heritable neuropsychiatric disorders; 7) Patient has an IQ greater than 85 on the Stanford-Binet; 8) Score ≤8 on an SCQ screen.\n\nExclusion Criteria:\n\n* All subjects: 1) Patient has auditory or visual impairments that cannot be corrected; 2) History of substance abuse or dependence within the past 6 months",true,"ALL","5 Years","10 Years",{"count":146,"type":22},180,[148],"NA","Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder caused by a mutation on the X chromosome. Scientists have investigated FXS extensively in both humans and animals. Thus far, phenotypic rescue in animal models has not resulted in treatment breakthroughs in humans, though some important discoveries have been made. Research has shown that individuals with FXS process sounds differently than those in the typical population, and they also show baseline differences in brain activity, including high gamma activity, increased theta activity, and decreased alpha activity. The investigators' central hypothesis is that these alterations in brain activity (specifically alpha and gamma activity) impair the brain's ability to process new information, thereby impeding cognitive functioning and increasing sensory sensitivity. The investigators propose that auditory entrainment, a technique that involves playing special sounds through headphones, will normalize brain activity in individuals with FXS and lead to increased cognitive function and decreased sensory hypersensitivity.",[29,151,152,153],"Autism Spectrum Disorder","Autistic Disorder","Asperger Syndrome",[155,152,151,29,32,31,156,157,158],"Neurodevelopmental Disorders","ASD","Asperger","Autism","2026-03-25",{"date":161,"type":45},"2026-03-30",{"date":163,"type":45},"2023-05-24",{"date":165,"type":22},"2028-05-24",{"name":167,"class":131},"Children's Hospital Medical Center, Cincinnati",{"id":169,"slug":170,"hasResults":11,"nctId":171,"briefTitle":172,"officialTitle":172,"acronym":4,"eligibilityCriteria":173,"healthyVolunteers":141,"sex":142,"minAge":174,"maxAge":175,"enrollmentInfo":176,"targetDuration":4,"studyType":23,"phases":177,"briefSummary":178,"conditions":179,"keywords":4,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":180,"lastUpdatePostDateStruct":181,"startDateStruct":183,"completionDateStruct":185,"leadSponsor":187,"locationsCount":132},"100559139","tracking-early-emergence-of-sound-perception-impairments-in-fxs-with-multimodal-fnirseeg--infant-100559139","NCT06560242","Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS\u002FEEG- Infant","Inclusion Criteria:\n\n* Diagnoses of Fragile X Syndrome, Typical Development, or History of Premature Birth\n* able to sit independently\n* English is spoken at home\n\nExclusion Criteria:\n\n* For all participants: no seizures in the past 6 months\n* For typical development group and Fragile X group: not born prior to 32 weeks gestation","6 Months","26 Months",{"count":21,"type":22},[148],"Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well. In addition, they experience other auditory symptoms, including being very sensitive to certain sounds as well as being more sensitive than others to loud sounds. The underlying brain activity for sound perception and speech learning in Fragile X is not well understood, especially in the infant and toddler years. This study uses behavioral assessment of speech and language abilities, neuroimaging, and hearing tests to understand how speech and hearing are different in children with Fragile X Syndrome.",[29],"2026-03-17",{"date":182,"type":45},"2026-03-19",{"date":184,"type":45},"2022-10-31",{"date":186,"type":22},"2026-10-31",{"name":167,"class":131},{"id":189,"slug":190,"hasResults":11,"nctId":191,"briefTitle":192,"officialTitle":193,"acronym":4,"eligibilityCriteria":194,"healthyVolunteers":141,"sex":142,"minAge":195,"maxAge":196,"enrollmentInfo":197,"targetDuration":4,"studyType":23,"phases":198,"briefSummary":199,"conditions":200,"keywords":4,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":180,"lastUpdatePostDateStruct":201,"startDateStruct":202,"completionDateStruct":204,"leadSponsor":206,"locationsCount":132},"100522897","speech-in-noise-perception-in-autism-and-fragile-x-100522897","NCT06088589","Speech-in-noise Perception in Autism and Fragile X","Cortical Mechanisms of Speech in Noise Perception in Autism and Fragile X Syndrome","Inclusion Criteria:\n\n1. normal audiograms (PTA ≤ 20 dB HL)\n2. corrected 20\u002F20 vision (Snellen chart)\n3. no history of premature birth (prior to 36 weeks gestation)\n4. no medications known to affect EEG signal\n5. English as the first language\n\nInclusion for the Autism group requires the following:\n\n1\\) diagnosis of Autism Spectrum Disorder either based on previous ADOS administration and developmental history, or confirmed via ADOS and developmental history\n\nInclusion for the Autism + FXS group requires the following:\n\n1. Documented PCR\u002FSouthern Blot genetic testing confirming full mutation FXS\n2. Diagnosis of Autism Spectrum Disorder, per Autism group.\n\nInclusion for the Typically Developing group requires the following:\n\n1. no siblings or parents with an Autism Spectrum Disorder or Fragile X Syndrome\n2. no current neurological or psychiatric diagnoses\n3. IQ over 75\n\nExclusion Criteria:\n\n* Hearing loss or uncorrected vision loss\n* history of premature birth (prior to 36 weeks gestation)","15 Years","35 Years",{"count":63,"type":22},[148],"The goal of this study is to identify which brain regions are active during speech-in-noise perception, as well as how those regions interact. The investigators are studying brain activation during speech-in-noise in autism and controls as well as individuals with Fragile X Syndrome. The main question\\[s\\] it aims to answer are: 1) How does the brain's response to background noise affect a person's ability to understand speech? 2) Can visual cues improve hearing in background noise?\n\nParticipants will complete the following:\n\n* hearing tests\n* cognitive and behavioral measures\n* questionnaires about their symptoms\n* both passive and active hearing tasks while brain activity is recorded with a neuroimaging cap Results will be compared between individuals with autism with and without Fragile X Syndrome as well as individuals without autism.",[151,29],{"date":182,"type":45},{"date":203,"type":45},"2023-11-10",{"date":205,"type":22},"2026-04-30",{"name":167,"class":131},{"id":208,"slug":209,"hasResults":11,"nctId":210,"briefTitle":211,"officialTitle":212,"acronym":213,"eligibilityCriteria":214,"healthyVolunteers":11,"sex":142,"minAge":4,"maxAge":4,"enrollmentInfo":215,"targetDuration":4,"studyType":23,"phases":217,"briefSummary":219,"conditions":220,"keywords":223,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":180,"lastUpdatePostDateStruct":229,"startDateStruct":231,"completionDateStruct":233,"leadSponsor":235,"locationsCount":132},"100115485","phase-4-the-psychiatric-and-cognitive-phenotypes-in-velocardiofacial-syndrome-100115485","NCT00768820","The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome","The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors","VCFS","Inclusion Criteria:\n\n* chromosomal deletion proven by FISH examination\n\nExclusion Criteria:",{"count":216,"type":22},400,[218],"PHASE4","The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors",[221,222,29],"Velocardiofacial Syndrome","Williams Syndrome",[224,225,226,227,228],"Velocardiofacial syndrome","Williams syndrome","fragile X syndrome","cognitive phenotype","psychiatric phenotype",{"date":230,"type":45},"2026-03-18",{"date":232,"type":4},"2001-05",{"date":234,"type":22},"2027-08",{"name":236,"class":131},"The Chaim Sheba Medical Center",{"id":238,"slug":239,"hasResults":11,"nctId":240,"briefTitle":241,"officialTitle":242,"acronym":243,"eligibilityCriteria":244,"healthyVolunteers":141,"sex":142,"minAge":18,"maxAge":4,"enrollmentInfo":245,"targetDuration":4,"studyType":23,"phases":247,"briefSummary":248,"conditions":249,"keywords":258,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":264,"lastUpdatePostDateStruct":265,"startDateStruct":267,"completionDateStruct":269,"leadSponsor":271,"locationsCount":53},"100572968","physical-activity-and-community-empowerment-project-100572968","NCT06740162","Physical Activity and Community EmPOWERment Project","A Stage 1 Pilot Test for Feasibility and Efficacy of a Multi-Level Intervention to Increase Physical Activity in Adults With Intellectual Disability: Physical Activity and Community EmPOWERment (PACE)","PACE","Inclusion criteria for adults with ID will include:\n\n* ages 18 and older with a prior clinical diagnosis of ID, confirmed by scores \\\u003C 70 and + 90% on the Leiter-3 International Performance Scales and\u002For an adaptive behavior measure using the Vineland Adaptive Behavior Scales,\n* Medical clearance to participate in moderate-to-vigorous physical activity as determined by the American College of Sports Medicine (ACSM) preparticipation algorithm,\n* Adult does not show clinically elevated symptoms of Alzheimer's Disease (AD)\u002F Alzheimer's Disease and Related Dementias (ADRD) as indicated by a score of \\\u003C 20 on the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities.\n* One caregiver\u002Fguardian is able and willing to participate.\n* must tolerate at least 8 hours of daily wear-time of Actigraph device during initial assessment period (4 of 7 days),\n* must average 20 minutes or less of moderate to vigorous physical activity (MVPA) minutes per day (140 MVPA minutes or less across 7-day period measured during the initial assessment period, and\n* must reside in North Carolina or Arkansas.\n\nExclusion Criteria for adults with ID:\n\n• Diagnosis of AD, dementia, or related disorders. Participants will not be excluded based on gender, race, or ethnicity. There will be no upper age limit due to the heterogeneity of onset of AD\u002FADRD in individuals with ID.\n\nInclusion criteria for coach will include:\n\n* access to the internet and a mobile device,\n* has weekly contact with the adult participant with ID,\n* can converse and read in English to comprehend intervention materials and website content, and\n* must reside in North Carolina or Arkansas\n\nInclusion criteria for caregiver will include:\n\n* ability to converse and read in English to comprehend and answer interview questions, (2) must care for an adult with ID who is willing to participate in the study,\n* must reside in North Carolina or Arkansas, and\n* must attend all study visits with adult with ID.",{"count":246,"type":22},376,[148],"Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease (AD)\u002Fage-related dementias (ARD).\n\nParticipants: Participants include 120 adults with ID, their caregivers, and their coaches (up to 360 individual participants, grouped as triads), recruited through the University of North Carolina at Chapel Hill and the University of Arkansas. Participants also include 16 exercise professionals.\n\nProcedures (methods): Each cohort will include 20 triads who are randomly assigned to the PACE program or the waitlist control group.",[35,155,151,250,29,251,252,253,254,255,256,257,222],"Down Syndrome","Cri-du-Chat Syndrome","De Lange Syndrome","Mental Retardation, X-Linked","Prader-Willi Syndrome","Rubinstein-Taybi Syndrome","Trisomy 13 Syndrome","WAGR Syndrome",[259,260,261,262,263],"physical activity","intellectual disability","age-associated memory impairment","aging","Alzheimer Disease prevention","2026-02-19",{"date":266,"type":45},"2026-02-23",{"date":268,"type":45},"2025-01-10",{"date":270,"type":22},"2028-06",{"name":272,"class":131},"University of North Carolina, Chapel Hill",{"id":274,"slug":4,"hasResults":11,"nctId":275,"briefTitle":276,"officialTitle":277,"acronym":4,"eligibilityCriteria":278,"healthyVolunteers":11,"sex":142,"minAge":279,"maxAge":280,"enrollmentInfo":281,"targetDuration":4,"studyType":23,"phases":283,"briefSummary":284,"conditions":285,"keywords":4,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":293,"lastUpdatePostDateStruct":294,"startDateStruct":296,"completionDateStruct":298,"leadSponsor":300,"locationsCount":132},"100526778","NCT06139172","Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)","Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities","Inclusion Criteria:\n\n* Age(s) 2-12 years old at time of enrollment\n* Existing genetic syndrome based on clinical or genetic diagnosis and confirmed by medical records\n* Documented diagnosis of global developmental delay (GDD) or intellectual disability (ID)\n* estimated ID in all ranges\n* Disruptive behavior challenges determined to be clinically appropriate for remote, parent-implemented coaching based on clinician determination of acuity of problem behaviors\n* Caregiver who is able to consent in English.\n* Parent\u002Fcaregiver available for weekly intervention sessions\n* Stable psychosocial and psychiatric treatments 3 months prior to baseline visit.\n\nExclusion Criteria:\n\n* High levels of aggression that mitigate remote or outpatient treatment as defined by clinician judgement and\u002For ABC Irritability scores above 20 (i.e., higher level of care needed than provided by study procedures)\n* Medical or psychiatric instability that may limit study participation\n* Meaningful change in medication or psychosocial interventions 3 months prior to baseline visit\n* Limitations in technology access that may hinder participation in remote trial (e.g., declining support provided by study participation)","2 Years","12 Years",{"count":282,"type":22},92,[148],"The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals with syndromic intellectual and developmental disorders.\n\nParticipants will be asked to complete virtual study assessments at intake and then on a monthly basis for the duration of 3-6 months. In addition, participants will attend weekly or biweekly virtual intervention visits with a study therapist.",[286,287,288,29,289,290,291,292],"Telomeric 22Q13 Monosomy Syndrome","Tuberous Sclerosis","Hamartoma Syndrome, Multiple","Angelman Syndrome","Rett Syndrome","Chromosome 15Q, Partial Deletion","Creatine Deficiency, X-linked","2026-01-21",{"date":295,"type":45},"2026-01-23",{"date":297,"type":45},"2023-09-15",{"date":299,"type":22},"2026-12",{"name":301,"class":131},"Rush University Medical Center",{"id":303,"slug":304,"hasResults":11,"nctId":305,"briefTitle":306,"officialTitle":307,"acronym":308,"eligibilityCriteria":309,"healthyVolunteers":11,"sex":142,"minAge":310,"maxAge":311,"enrollmentInfo":312,"targetDuration":4,"studyType":23,"phases":314,"briefSummary":315,"conditions":316,"keywords":4,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":329,"lastUpdatePostDateStruct":330,"startDateStruct":332,"completionDateStruct":334,"leadSponsor":336,"locationsCount":338},"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":313,"type":22},130,[25],"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.",[155,158,151,29,287,317,318,319,320,321,322,323,324,325,326,327,328],"22Q11 Deletion Syndrome","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":331,"type":45},"2025-07-16",{"date":333,"type":45},"2024-09-16",{"date":335,"type":22},"2026-09",{"name":337,"class":131},"Holland Bloorview Kids Rehabilitation Hospital",8,{"id":340,"slug":341,"hasResults":11,"nctId":342,"briefTitle":343,"officialTitle":344,"acronym":4,"eligibilityCriteria":173,"healthyVolunteers":141,"sex":142,"minAge":345,"maxAge":346,"enrollmentInfo":347,"targetDuration":4,"studyType":23,"phases":349,"briefSummary":350,"conditions":351,"keywords":4,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":352,"lastUpdatePostDateStruct":353,"startDateStruct":355,"completionDateStruct":357,"leadSponsor":359,"locationsCount":132},"100512830","tracking-early-emergence-of-sound-perception-impairments-in-fxs-with-multimodal-fnirseeg-preschool-age-100512830","NCT05957549","Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS\u002FEEG-Preschool Age","Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS\u002FEEG- Preschool Age","24 Months","4 Years",{"count":348,"type":22},90,[148],"Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well. In addition, they experience other auditory symptoms, including being very sensitive to certain sounds as well as being more sensitive than others to loud sounds. The underlying brain activity for sound perception and speech learning in Fragile X is not well understood, especially in the infant, toddler, and preschool years. This study uses behavioral assessment of speech and language abilities, neuroimaging, and hearing tests to understand how speech and hearing are different in children with Fragile X Syndrome.",[29],"2025-07-06",{"date":354,"type":45},"2025-07-10",{"date":356,"type":45},"2022-10-04",{"date":358,"type":22},"2027-03-01",{"name":167,"class":131},{"id":361,"slug":362,"hasResults":11,"nctId":363,"briefTitle":364,"officialTitle":365,"acronym":4,"eligibilityCriteria":366,"healthyVolunteers":11,"sex":142,"minAge":279,"maxAge":367,"enrollmentInfo":368,"targetDuration":4,"studyType":23,"phases":370,"briefSummary":371,"conditions":372,"keywords":4,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":374,"lastUpdatePostDateStruct":375,"startDateStruct":377,"completionDateStruct":379,"leadSponsor":381,"locationsCount":132},"100448519","phase-4-metformin-in-children-with-fragile-x-syndrome-100448519","NCT05120505","Metformin in Children With Fragile X Syndrome","Efficacy and Safety of Metformin in the Treatment of Fragile X Syndrome","Inclusion Criteria:\n\n* Genetic testing confirms the diagnosis of FXS\n* Participate in the study with the informed consent of the guardian\n* BMI\\>the 3rd percentile\n* Not taking more than 2 therapeutic drugs\n* Able to receive regular follow-up visits\n\nExclusion Criteria:\n\n* Malnutrition\n* Primary heart disease\n* Severe infection or acute clinical illness\n* Gastrointestinal, renal, or hepatic disease\n* Previous history of lactic acidosis\n* previous use of metformin intolerant\n* Use of angiotensin converting enzyme inhibitors, use of anticoagulants, vitamin B12 deficiency, alcohol consumption\n* Unstable systemic diseases other than FXS\n* Changes in clinical medication","16 Years",{"count":369,"type":22},20,[218],"This study is a controlled trial of metformin in children with fragile X syndrome(FXS). The age of FXS children range from 2 to 16 years old. Participants will be randomized in a double-blind design to either drug or placebo for 6-month period. The primary objectives are to assess metformin in treatment of behavior problems, cognitive and language with fragile X syndrome.",[29,373],"Metformin","2025-02-16",{"date":376,"type":45},"2025-02-18",{"date":378,"type":45},"2021-12-29",{"date":380,"type":22},"2025-12-30",{"name":382,"class":131},"Children's Hospital of Fudan University",{"id":384,"slug":385,"hasResults":11,"nctId":386,"briefTitle":387,"officialTitle":388,"acronym":4,"eligibilityCriteria":389,"healthyVolunteers":141,"sex":142,"minAge":390,"maxAge":391,"enrollmentInfo":392,"targetDuration":4,"studyType":23,"phases":394,"briefSummary":395,"conditions":396,"keywords":397,"overallStatus":403,"whyStopped":4,"lastUpdateSubmitDate":404,"lastUpdatePostDateStruct":405,"startDateStruct":407,"completionDateStruct":409,"leadSponsor":411,"locationsCount":4},"100536178","phase-2-effect-of-cbd-on-the-brain-100536178","NCT06261450","Effect of CBD on the Brain","Effect of CBD on the GABAergic System in Patients with Fragile X Syndrome.","Inclusion Criteria:\n\nEligibility criteria for FXS participants will include:\n\n* age between 7 and 55 years, molecular diagnosis of FXS,\n* intelligence quotient (IQ) \\\u003C70,\n* aberrant behavior questionnaire score (ABC-C) \\> 20,\n* \\\u003C3 psychoactive drugs, drug stable for \\> 3 months.\n\nEligibility criteria for the control group:\n\n* 18 and 55 years old,\n* be in good general health, with no history of neurological or psychiatric disorders.\n\nEligibility Criteria for all Participants:\n\n* A minimum weight of 60 kg;\n* no history of liver problems (A complete blood profile to measure liver enzyme levels (bilirubin, aspartate aminotransferase (AST), argininosuccinate lyase (ASL), alanine transaminase (ALT), alkaline phosphatase (ALP), gamma-glutamyl transferase (GGT)) will be obtained before randomization for all participants).\n\nExclusion Criteria:\n\n* The presence of an absolute contraindication to the use of TMS and MRI \u002F MRS (ie presence of metal in the head).\n* Individuals with ALT \u002F ASL levels greater than 3 times the upper normal baseline, or if bilirubin exceeds 2 times the upper baseline,","7 Years","55 Years",{"count":393,"type":22},50,[25],"This proposal focuses on the therapeutic relevance of the endocannabinoid (eCB) system for the treatment of Fragile-X syndrome (FXS), the primary hereditary cause of autism spectrum disorder (ASD). Although most individuals with FXS have moderate to severe intellectual disability (ID), caregivers are mainly concerned about aggressive behavior and anxiety problems, hallmark features of the condition. Concurrent lines of evidence suggest that targeting the endocannabinoid (eCB) system by administration of cannabidiol (CBD) could upregulate GABAergic functions and correct inhibitory deficits presumed responsible for the neuropsychiatric phenotype of FXS. However, the eCB system and its effect on the brain remains unexplored in FXS patients. This clinical trial aims to define the therapeutic relevance of the eCB system for FXS using a multimodal neuroimaging approach to finely characterize the acute effects of oral CBD on the principal inhibitory neurotransmitter system (GABA) in a large cohort of FXS patients.",[29],[398,399,400,31,401,402],"MRI","Cannabidiol","GABA","MRS","TMS","NOT_YET_RECRUITING","2025-02-13",{"date":406,"type":45},"2025-02-17",{"date":408,"type":22},"2025-05-01",{"date":410,"type":22},"2027-12-15",{"name":412,"class":131},"Université de Sherbrooke",{"id":414,"slug":415,"hasResults":11,"nctId":416,"briefTitle":417,"officialTitle":417,"acronym":418,"eligibilityCriteria":419,"healthyVolunteers":11,"sex":142,"minAge":390,"maxAge":420,"enrollmentInfo":421,"targetDuration":4,"studyType":23,"phases":423,"briefSummary":424,"conditions":425,"keywords":426,"overallStatus":403,"whyStopped":4,"lastUpdateSubmitDate":404,"lastUpdatePostDateStruct":429,"startDateStruct":430,"completionDateStruct":431,"leadSponsor":433,"locationsCount":4},"100536182","phase-2-effect-of-cannabidiol-on-anxiety-and-gabaergic-function-in-individuals-with-fragile-x-syndrome-100536182","NCT06261502","Effect of CANnabidiol on Anxiety and GABAergic Function in Individuals with Fragile-X Syndrome","CANAX","Inclusion Criteria:\n\n* Molecular diagnosis of FXS\n* Age 7 to 40 inclusively\n* Overall ABC-C score \\> 20\n* Taking up to 3 psychoactive drugs\n* No therapeutic change for the last 3 months\n\nExclusion Criteria:\n\n* Taking valproic acid\n* Taking clobazam\n* History of liver problems\n* aspartate aminotransferase (AST) or alanine transaminase (ALT), \\> 3 times the reference values\n* Bilirubin \\> 2 times the reference values\n* Absolute contraindication to the use of TMS and MRI (e.g. presence of metal in the body), will also be considered as an exclusion criterion.","40 Years",{"count":422,"type":22},40,[25],"This study focuses on the therapeutic relevance of the endocannabinoid (eCB) system for the treatment of Fragile-X syndrome (FXS), the primary hereditary cause of autism spectrum disorder (ASD). Most individuals with FXS have moderate to severe intellectual disability (ID), and caregivers are mainly concerned about aggressive behavior and anxiety problems. Since FXS individuals have a normal lifespan, the overall lifetime cost for the Canadian society of a single case is estimated at $1.2 to $4.7 millions reaching $18 billions for all FXS cases. There is no cure for FXS, as all clinical trials so far have been unsuccessful.FXS is caused by transcriptional silencing of the Fragile X mental retardation protein (FMR1) gene, making FXS a simple model to study ASD and ID pathophysiological mechanisms. Of those, neuronal hyperexcitability is largely recognized as a core deficit in FXS, and a critical therapeutic target for the disorder. Using transcranial magnetic stimulation (TMS) in FXS patients, our team provided the first direct evidence of Gamma-aminobutyric acid (GABA) receptor a (GABAa) dysfunctions in humans with this disorder and showed that this inhibitory deficit is linked with cortical hyperexcitability (PMID: 31748507). Concurrent lines of evidence suggest that stimulation of the endocannabinoid (eCB) system with the administration of Cannabidiol (CBD) could upregulate GABAergic function and correct inhibitory deficits presumed responsible for the neuropsychiatric phenotype of FXS. CBD has been shown to increase GABA concentration levels in the brains of healthy individuals, an effect that could help correct the hyperexcitability typically found in FXS. Thus, this trial aims to define the therapeutic potential of the eCB system for FXS, by measuring the impacts of oral CBD administration on the principal inhibitory neurotransmitter system of FXS patients, and the severity of the clinical phenotype.",[29],[31,427,402,398,428],"CBD","eCB",{"date":406,"type":45},{"date":408,"type":22},{"date":432,"type":22},"2027-12-01",{"name":412,"class":131}]