[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"fragile-x-syndrome-fxs\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:fragile-x-syndrome-fxs":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,6,0,[8,54,91,162,187,214],{"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":60,"eligibilityCriteria":61,"healthyVolunteers":62,"sex":63,"minAge":64,"maxAge":65,"enrollmentInfo":66,"targetDuration":4,"studyType":23,"phases":68,"briefSummary":70,"conditions":71,"keywords":73,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":80,"lastUpdatePostDateStruct":81,"startDateStruct":83,"completionDateStruct":85,"leadSponsor":87,"locationsCount":90},"100582874","optical-imaging-in-x-linked-disorders-100582874","NCT06868979","Optical Imaging in X-linked Disorders.","Optical Imaging as a Diagnostic Tool for Monitoring Brain Function in X-linked Rare Disorders","IMAGINER","Inclusion Criteria :\n\nCTD male patients :\n\n* male\n* having a confirmed mutation in the SLC6A8 gene\n* ≥ 5 to ≤ 35 years old\n* whose maternal language is French,\n* having signed the informed consent and\u002For for whom parents (for children)\u002Flegal guardian (for protected adults) have signed the informed consent.\n* affiliated to national Health Insurance system (sécurité sociale) or parents\u002Flegal guardian affiliated to national health insurance system\n\nCTD female patients :\n\n* female CTD patients having a confirmed mutation in the SLC6A8 gene,\n* aged \\> 5 to \\\u003C 60 years,\n* whose maternal language is French (for the patients included in France),\n* having signed the informed consent and\u002For for whom parents (for children)\u002Flegal guardian (for protected adults) have signed the informed consent.\n* affiliated to national Health Insurance system (sécurité sociale) or parents\u002Flegal guardian affiliated to national health insurance system\n\nFXS patients :\n\n* male\n* having a confirmed full mutation in the FMR1 gene (\\>200 GCC repeats)\n* ≥ 5 to ≤ 35 years old\n* whose maternal language is French,\n* having signed the informed consent and\u002For for whom parents (for children)\u002Flegal guardian (for protected adults) have signed the informed consent.\n* affiliated to national Health Insurance system (sécurité sociale) or parents\u002Flegal guardian affiliated to national health insurance system\n\nSex- and chronological age-matched male controls :\n\n* male\n* ≥ 5 to ≤ 35 years old\n* whose maternal language is French,\n* having signed the informed consent and\u002For for whom parents have signed the informed consent.\n* affiliated to national Health Insurance system (sécurité sociale) or parents\u002Flegal guardian affiliated to national health insurance system\n\nSex- and chronological age-matched female controls :\n\n* female,\n* aged \\> 5 to \\\u003C 60 years\n* whose maternal language is French (for the patients included in France),\n* having signed the informed consent and\u002For for whom parents\u002Flegal guardian have signed the informed consent.\n* affiliated to national Health Insurance system (sécurité sociale) or parents\u002Flegal guardian affiliated to national health insurance system.\n\nEach CTD patient will be matched to a sex- and chronological age-matched control.\n\nExclusion Criteria:\n\nCTD male and female patients :\n\n* Refusal of the subject and\u002For the subject's parents\u002Flegal guardian to sign the informed consent\n* Refusal of the subject and\u002For the subject's parents\u002Flegal guardian to be informed of possible abnormalities detected during the neuropsychological assessment.\n\nFXS patients :\n\n* Refusal of the subject and\u002For the subject's parents\u002Flegal guardian to sign the informed consent\n* Refusal of the subject and\u002For the subject's parents\u002Flegal guardian to be informed of possible abnormalities detected during the neuropsychological assessment.\n\nSex- and chronological age-matched male and female controls :\n\n* Refusal of the subject and\u002For the subject's parents\u002Flegal guardian to sign the informed consent\n* Refusal of the subject and\u002For the subject's parents\u002Flegal guardian to be informed of possible abnormalities detected during the neuropsychological assessment.\n* History of neurological or psychiatric disorder,\n* Repetition of a grade,\n* Learning disability requiring rehabilitation (speech therapy, psychomotor or oculomotor therapy).",true,"ALL","5 Years","60 Years",{"count":67,"type":22},118,[69],"NA","Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability. FXS and CTD affect hemizygous males and with highly variable severity heterozygous females. Both these neurodevelopmental disorders (NDDs) have a dramatic impact on the family quality of life and the health-care system. These disorders share common clinical traits, including intellectual disability, autistic-like features, behavioural and mood alterations and seizures. Brain anatomy appears largely normal, suggesting that functional deficits result from subtle changes in synaptic connectivity. Moreover, common physiological mechanisms related to brain energetics might concur to the pathophysiology of FXS and CTD. Indeed, FMR1 and SLC6A8 are directly involved in the regulation of metabolism and the loss-of-function of both genes leads to a disruption of the mitochondrial network.\n\nThere is no cure for these disorders and the efficacy study of potential treatments is hindered by the scarcity of unbiased, quantitative, non-invasive biomarkers for monitoring brain function.\n\nThis is a critical problem, since the often-used phenotypic observation of behavioural endpoints to score NDDs such as FXS and CTD is highly prone to subjective bias. For successful clinical trials, the availability of objective readouts is crucial to evaluate the therapeutic response to new drugs. There are multiple techniques to visualize neural circuit activity in the living brain. Interestingly, FXS and CTD are the only two NDDs that at preclinical level show an abnormally large hemodynamic response to sensory stimulation in functional imaging studies of intrinsic optical signals.\n\nThe objective of this project is to exploit optical imaging techniques to devise a measurable and non-invasive biomarker of brain function in FXS and CTD. Since a disruption of brain energy metabolism is a major disease mechanism linking these disorders, we hypothesized that the assessment of the cerebral blood flow and oxygen consumption represents a sensitive readout for quantifying functional alterations of neural circuits.\n\nFunctional near-infrared spectroscopy (fNIRS), allows quantifying changes of hemoglobin species and local blood flow in the cerebral cortex of humans, providing an indirect measure of neuronal activity. In the clinical framework, this blood-oxygen-level-dependent signal is similar to that detected with functional MRI (fMRI). However, fNIRS has the advantage of being completely non-invasive, low-cost, portable, noiseless, endowed with high experimental flexibility and easy to implement in both laboratory and clinical settings. Moreover, fNIRS is more tolerant to motion artifacts than fMRI, and robust methods for motion detection\u002Fcorrection allow to image very young children without sedation. These methodological strengths make fNIRS as an outstanding choice for investigating neural circuits in clinically relevant populations at the very-low cost. Although introduced into the clinical care almost 40 years ago, fNIRS gained much popularity in the study of brain development and NDDs only recently. To date, however, fNIRS has been used primarily to investigate the typical maturation of speech perception and language, sensory and motor functions, social communication and interaction, object and action processing in toddlers and children.\n\nIn this proposal, the investigators hypothesize that by combining the above-mentioned strengths of fNIRS to the clinical study of several cognitive and motor parameters, the investigators can define unique \"fNIRS signatures\" for FXS and CTD as brain biomarkers for the diagnosis and the assessment of treatment outcomes. Since the measurement of visual responses has been introduced as a quantitative method to assess brain function in NDDs, the investigators will test the value of visually-evoked fNIRS signals in classifying patients and predicting symptom severity in the FXS and CTD clinical population. Preliminary data in the mouse models of CTD and FXS strongly suggest that visual hemodynamic responses (vHDR) are markedly altered in the occipital cortex of mutant animals. Morever, the investigators will use a standardized procedure with high entertaining value to measure vHDR in the occipital cortex of children.",[28,72],"Creatine Transporter Deficiency",[74,75,76,77,78,79],"Fragile X syndrome","Optical imaging","brain function","Creatine transporter","cognitive function","reasoning tasks","2026-05-13",{"date":82,"type":45},"2026-05-15",{"date":84,"type":45},"2026-03-30",{"date":86,"type":22},"2029-03",{"name":88,"class":89},"Hospices Civils de Lyon","OTHER",1,{"id":92,"slug":93,"hasResults":11,"nctId":94,"briefTitle":95,"officialTitle":96,"acronym":97,"eligibilityCriteria":98,"healthyVolunteers":11,"sex":63,"minAge":99,"maxAge":100,"enrollmentInfo":101,"targetDuration":4,"studyType":103,"phases":4,"briefSummary":104,"conditions":105,"keywords":128,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":153,"lastUpdatePostDateStruct":154,"startDateStruct":156,"completionDateStruct":158,"leadSponsor":160,"locationsCount":90},"100630855","intensive-multimodal-neurorehabilitation-targeting-neuroplasticity-in-pediatric-neurodevelopmental-and-chromosomal-disorders-100630855","NCT07493096","Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders","Functional and Neurodevelopmental Outcomes Following Intensive Multimodal Neurorehabilitation in Pediatric Patients With Neurodevelopmental Disorders, Including Chromosomal Abnormalities","GEN-HOPE","Inclusion Criteria:\n\n* Pediatric participants between approximately 4 and 12 years of age at the time of enrollment.\n* Diagnosed with or presenting with neurodevelopmental, neurologic, or genetic conditions, including but not limited to:\n\n  * cerebral palsy\n  * autism spectrum disorder\n  * developmental delay\n  * hypoxic ischemic encephalopathy (HIE)\n  * traumatic brain injury\n  * sensory processing disorder\n  * chromosomal or genetic abnormalities\n  * Demonstrate functional impairments in one or more neurodevelopmental domains, including:\n* motor coordination or motor planning\n* sensory processing\n* attention or executive functioning\n* oculomotor or visual processing\n* communication\n* emotional or behavioral regulation\n* activities of daily living\n* Enrolled in and able to participate in a two-week intensive therapy program consisting of approximately 2.5 hours per day\u002F 5 days per week\n\n  * Able to complete baseline and post-program clinical assessment using clinician-observed or caregiver-reported measures.\n  * Parent or legal guardian able to provide informed consent and participate in reporting functional outcomes when applicable.\n\nExclusion Criteria:\n\n* Medical instability or acute medical condition that would prevent safe participation in an intensive therapy program.\n* Severe uncontrolled seizure activity or other neurologic condition that would interfere with participation in structured therapeutic activities, as determined by the treating clinician.\n* Behavioral or psychological conditions that would prevent safe engagement in the therapy environment despite appropriate support.\n* Inability to attend or complete the full two-week intensive program.\n* Lack of sufficient baseline or post-intervention data to assess change in functional performance.\n* Concurrent participation in another structured intervention or clinical study that would confound interpretation of functional outcomes, at the discretion of the investigator.","4 Years","12 Years",{"count":102,"type":22},100,"OBSERVATIONAL","This observational study evaluates functional and developmental outcomes in pediatric participants undergoing a two week intensive multimodal neurorehabilitation program. The program is designed for children with neurodevelopmental disorders, including but not limited to cerebral palsy, autism spectrum disorder, developmental delay, hypoxic ischemic encephalopathy (HIE), and chromosomal or genetic abnormalities.\n\nParticipants receive individualized therapy sessions for approximately 2.5 hours per day over a two week period. The intervention is not standardized but is tailored to each child's specific needs and may include components such as sensory integration, motor planning, reflex integration, oculomotor training, executive functioning activities, communication support, and other brain based therapeutic approaches.\n\nThe purpose of this study is to observe changes in functional abilities, including attention, motor coordination, emotional regulation, communication, and activities of daily living. Outcomes are assessed using clinician observation and parent reported changes before and after the intensive program, with limited follow-up when available.\n\nThis study does not assign participants to a specific treatment as part of a research protocol. Instead, it collects real world data from children already participating in a clinical therapy program to better understand potential benefits of intensive, individualized neurorehabilitation approaches.",[106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,28,124,125,126,127],"Neurodevelopmental Disorders","Neurodevelopmental Disorders (NDD)","Neurodevelopmental Disorders and Developmental Abnormalities","Developmental Delay (Disorder)","Cerebral Palsy (CP)","Cerebral Palsy Hemiparetic Cerebral Palsy Spasticity Gait Disorders, Neurologic Postural Balance Impairment","Cerebral Palsy Infantile","Cerebral Palsy Spastic Hemiplegic","Cerebral Palsy, Dyskinetic","Autism Spectrum Disorder","Autism Spectrum Disorder (ASD","Hypoxic Ischemic Encephalopathy","Hypoxic Ischemic Encephalopathy (HIE)","Traumatic Brain Injury (TBI)","Sensory Processing Disorder","Chromosomal Abnormalities","Genetic Disorders","Down Syndrome (Trisomy 21)","RETT Syndrome With Proven MECP2 Mutation","Williams Syndrome","22q11.2 Deletion Syndrome","Sensorimotor Integration",[129,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,106,147,148,149,150,151,152],"Photobiomodulation","Low-Level Laser Therapy","Vibration Therapy","Tactile Stimulation","Cognitive Training","Behavioral Therapy","Intensive Therapy","Pediatric Neurorehabilitation","Multimodal Therapy","Neuroplasticity","Sensory Integration","Reflex Integration","Motor Planning","Executive Function","Emotional Regulation","Functional Outcomes","Activities of Daily Living","High Frequency Therapy","Rehabilitation","Child Development Disorders","Occupational Therapy","Physical Therapy Modalities","Early Intervention","Cognitive Therapy","2026-03-19",{"date":155,"type":45},"2026-03-25",{"date":157,"type":45},"2026-03-01",{"date":159,"type":22},"2036-12-30",{"name":161,"class":89},"Healing Hope International",{"id":163,"slug":164,"hasResults":11,"nctId":165,"briefTitle":166,"officialTitle":167,"acronym":4,"eligibilityCriteria":168,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":169,"targetDuration":4,"studyType":23,"phases":171,"briefSummary":173,"conditions":174,"keywords":175,"overallStatus":178,"whyStopped":4,"lastUpdateSubmitDate":179,"lastUpdatePostDateStruct":180,"startDateStruct":182,"completionDateStruct":183,"leadSponsor":185,"locationsCount":4},"100626736","phase-2-a-study-to-investigate-the-effects-and-safety-of-spg601-for-the-treatment-of-fragile-x-syndrome-in-male-participants-100626736","NCT07439510","A Study to Investigate the Effects and Safety of SPG601 for the Treatment of Fragile X Syndrome in Male Participants","A Phase 2b\u002F3, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of SPG601 in Male Participants With Fragile X Syndrome","Inclusion Criteria:\n\n* Adult males aged 18 to 45 years, inclusive\n* Diagnosis of Fragile X as confirmed with genetic testing\n* Patient must have caregiver\n* Must be in good health with no significant medical history\n\nExclusion Criteria:\n\n* Any physical or psychological condition that prohibits study completion\n* Uncontrolled seizures or history of epilepsy with a seizure in the past 6 months.\n* Auditory or visual impairments that cannot be corrected\n* History of suicidal behavior or suicidal ideation\n* Screening vital signs that are abnormal per protocol specification\n* ECG that are clinically significant abnormal\n* History of substance abuse or dependence within 6 months\n* Other investigational products within 30 days\n* Unable to swallow capsules",{"count":170,"type":22},248,[25,172],"PHASE3","This Phase 2b\u002F3, randomized, double-blind, placebo-controlled, 2-part study will evaluate the efficacy, safety and tolerability of different dose regimens of SPG601 in adult male participants with Fragile X syndrome.",[28],[29,176,177],"Fragile X Chromosome","cognitive outcomes","NOT_YET_RECRUITING","2026-02-24",{"date":181,"type":45},"2026-02-27",{"date":157,"type":22},{"date":184,"type":22},"2030-06-30",{"name":186,"class":52},"Spinogenix",{"id":188,"slug":189,"hasResults":11,"nctId":190,"briefTitle":191,"officialTitle":192,"acronym":193,"eligibilityCriteria":194,"healthyVolunteers":62,"sex":63,"minAge":195,"maxAge":196,"enrollmentInfo":197,"targetDuration":4,"studyType":103,"phases":4,"briefSummary":199,"conditions":200,"keywords":201,"overallStatus":178,"whyStopped":4,"lastUpdateSubmitDate":179,"lastUpdatePostDateStruct":207,"startDateStruct":209,"completionDateStruct":211,"leadSponsor":213,"locationsCount":90},"100626315","the-neurocognitive-bases-of-trust-in-intellectual-disability-100626315","NCT07434037","The Neurocognitive Bases of Trust in Intellectual Disability","The Neurocognitive Bases of Trust in Intellectual Disability: Affective Evaluation, Trait Attribution, and Epistemic Vigilance","BNConfDI","Inclusion Criteria :\n\nGroup of Down Syndrom patients\n\n* Complete chromosomal trisomy of the 21st chromosome confirmed by karyotype analysis\n* Aged 13 to 29 (chronological age)\n* French as their native language\n* Having signed an informed consent form and\u002For whose legal guardians\u002Fpatient representatives have signed the informed consent form\n* Affiliated with the French health insurance system (social security) or whose legal guardians are affiliated with the French health insurance system\n\nGroup of X-Fragile Syndrome\n\n* Complete mutation of the FMR1 gene by molecular analysis (more than 200 CGG triplet repeats)\n* Aged between 13 and 29 (chronological age)\n* Native French speakers\n* Having signed an informed consent form and\u002For whose legal guardians\u002Fpatient representatives have signed the informed consent form\n* Affiliated with the French health insurance system (social security) or whose legal guardians are affiliated with the French health insurance system\n\nGroup of chronological age-matched control\n\n* Aged between 13 and 29\n* Native French speakers.\n* Having signed an informed consent form and\u002For whose legal guardians\u002Fpatient representatives have signed the informed consent form\n* Affiliated with the French health insurance system (social security) or whose legal guardians are affiliated with the French health insurance system\n\nGroup of mental age-matched control\n\n* Aged between 3 and 9\n* Native French speakers.\n* Whose legal guardians\u002Fpatient representatives have signed the informed consent form\n* Affiliated with the French health insurance system (social security) or whose legal guardians are affiliated with the French health insurance system\n\nExclusion Criteria:\n\nGroups of Down Syndrom and X-Fragiles patients\n\n* Inability to understand tasks\n* Significant brain malformation\n* Uncontrolled epilepsy\n* Significant hearing impairment\n* Uncorrected visual impairment\n* Refusal of the subject and\u002For legal guardians\u002Frepresentative of the subject to be informed of any abnormalities detected during the neuropsychological assessment.\n* Subject participating in another interventional study with an exclusion period still ongoing at the time of pre-inclusion.\n\nRegarding the neuroimaging (MRI) study:\n\n* Having a contraindication to MRI examination (people using a pacemaker or insulin pump, people with metal prostheses or intracerebral clips, people with metal fragments in their eyes, as well as claustrophobic subjects). A comprehensive list of contraindications is provided in Appendix 5.\n* Inability to perform the MRI without anaesthesia.\n* Refusal by the subject and\u002For those exercising parental authority\u002Fthe subject's representative to be informed of any abnormalities detected during the MRI.\n\nGroups of typical development persons (chronological age-matched and mental age-matched)\n\n* Known acquired neurological disorders, including epilepsy.\n* History of head trauma requiring hospitalisation.\n* Known psychiatric disorders.\n* Birth complications requiring admission to a neonatal intensive care unit or prematurity of less than 35 weeks.\n* Ongoing treatment with drugs affecting the central nervous system.\n* Significant hearing impairment\n* Uncorrected visual impairment\n* Repeating a school year\n* Learning disorders requiring rehabilitation (speech therapy, psychomotor therapy or orthoptics) for more than one year.\n* Refusal of the subject and\u002For legal guardians\u002Frepresentative of the subject to be informed of any abnormalities detected during the neuropsychological assessment.\n* Subject participating in another interventional study with an exclusion period still ongoing at the time of pre-inclusion.\n\nRegarding the neuroimaging (MRI) study (only for chronological age-matched group):\n\n* Having a contraindication to MRI examination (people using a pacemaker or insulin pump, people with metal prostheses or intracerebral clips, people with metal fragments in their eyes, as well as claustrophobic subjects). A comprehensive list of contraindications is provided in Appendix 5.\n* Inability to perform the MRI without anaesthesia.\n* Refusal by the subject and\u002For those exercising parental authority\u002Fthe subject's representative to be informed of any abnormalities detected during the MRI.","3 Years","29 Years",{"count":198,"type":22},112,"This project studies the neurocognitive basis of trust adjustment in intellectual disability (ID), a source of significant vulnerability for these patients, focusing on two target populations chosen for their specific social characteristics: people with Down syndrome, who are often described as being hypersocial, and people with Fragile X syndrome, who are often characterized by a completely opposite social behaviour profile, with a withdrawn attitude and significant social anxiety.\n\nThe three different types of mechanisms that contribute to the adjustment of interpersonal trust: affective evaluation, trait attribution, and epistemic evaluation of informants, will be studied. Affective evaluation processes recruit subcortical structures such as the amygdala and assess potential social threats in the environment. The second mechanism for selecting whom to trust consists of forming a representation of a person's dispositions, such as benevolence and competence (also known as traits), and using it to predict that person's future behaviour. Trait attribution processes recruit a cortico-cerebellar network comprising the mPFC, CRUS I and posterior lobule VI. The third mechanism, called epistemic vigilance, allows to adjust our trust in what others communicate to us. This mechanism involves linking the assessment of the reliability of individuals who communicate (based on their benevolence and competence) with the reliability of the communicated information. Epistemic assessment involves frontal areas and areas associated with the representation of mental states in order to enable the evaluation of the truthfulness of the communicated information. All of these mechanisms become functional very early on, before a child's sixth birthday. There are reasons to expect that several of these central mechanisms supporting selective trust will behave atypically in intellectual disability.",[123,28],[202,203,204,205,206,74],"Trust","Intellectual disability","Eyetracking analysis","Neuroimaging","Down syndrome",{"date":208,"type":45},"2026-02-25",{"date":210,"type":22},"2026-02",{"date":212,"type":22},"2029-12",{"name":88,"class":89},{"id":215,"slug":216,"hasResults":11,"nctId":217,"briefTitle":218,"officialTitle":219,"acronym":4,"eligibilityCriteria":220,"healthyVolunteers":11,"sex":63,"minAge":221,"maxAge":222,"enrollmentInfo":223,"targetDuration":4,"studyType":23,"phases":225,"briefSummary":226,"conditions":227,"keywords":228,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":238,"lastUpdatePostDateStruct":239,"startDateStruct":241,"completionDateStruct":243,"leadSponsor":245,"locationsCount":90},"100568180","group-cbt-in-adolescents-with-fragile-x-syndrome-and-in-adolescents-with-autism-spectrum-disorder-100568180","NCT06677866","Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder","Effectiveness of Cooperative Group Therapy in Adolescents With Fragile X Syndrome (FXS) and in Adolescents With Autism Spectrum Disorder (ASD)","FXS group:\n\nInclusion Criteria\n\n* Clinical diagnosis of FXS confirmed by genetic testing.\n* Age between 13 and 19 years.\n* Language skills compatible with group intervention (verbal language at sentence level).\n* Impairment in adaptive functioning measured by VABS II \\\u003C 70.\n* Informed consent for participation and data processing provided by parents. Exclusion Criteria\n* Severe visual or hearing impairments.\n* Diagnosis of epilepsy or a history of seizures requiring medication.\n* Participation in other non-pharmacological treatments.\n* Changes in pharmacological therapy within the last 3 months.\n* Presence of medical problems or behaviors that could interfere with group activities, as measured by the Autism Behavior Checklist (ABC) (ABC Irritability Scale \\\u003C 18).\n* IQ \\\u003C 40 measured by the Leiter third edition (Leiter 3)\n* Severe adaptive functioning, measured by VABS II \\\u003C 20.\n\nASD group:\n\nInclusion Criteria\n\n* Clinical diagnosis of Autism Spectrum Disorder (ASD) confirmed by ADOS-2 and ADI-R interviews.\n* Age between 13 and 19 years.\n* Language skills compatible with group intervention (verbal language at sentence level).\n* Impairment in adaptive functioning measured by VABS II \\\u003C 70.\n* Informed consent for participation and data processing provided by parents.\n\nExclusion Criteria\n\n* Severe visual or hearing impairments.\n* Identification of specific genetic abnormalities or presence of known genetic syndromes associated with ASD (e.g., TSC, FXS, 22q11, 16p11.2, Rett Syndrome).\n* Diagnosis of epilepsy or a history of seizures requiring medication.\n* Participation in other non-pharmacological treatments.\n* Changes in pharmacological therapy within the last 3 months.\n* Presence of medical problems or behaviors that could interfere with group activities, as measured by the Autism Behavior Checklist (ABC) (ABC Irritability Scale \\\u003C 18).\n* IQ \\\u003C 40 measured by the Leiter third edition (Leiter 3)\n* Severe adaptive functioning, measured by VABS II \\\u003C 20.","13 Years","19 Years",{"count":224,"type":22},20,[69],"Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism Spectrum Disorder (ASD) due to a single gene-mutation. Many individuals with FXS exhibit symptoms overlapping with those of ASD, including difficulties in social-communication skills, challenges in peer relationships, restricted and repetitive behaviors\u002Finterests and deficits in adaptive functioning. Both in ASD and FXS, individuals with greater deficits in executive functions, socio-pragmatic, and socio-relational skills also demonstrate lower adaptive functioning and, consequently, reduced autonomy\u002Findependence throughout the life course and greater severity of the disorder.\n\nAmong empirically validated treatments recommended by National and International Guidelines for the treatment of ASD, cognitive-behavioral and psychosocial interventions have been shown to improve some aspects of ASD, such as core symptoms, emotional-behavioral disturbances, adaptive skills, and quality of life. Currently, it appears that cognitive-behavioral therapies, which include psychoeducation programs, are particularly appropriate for ASD, with greater efficacy for group interventions compared to individual ones. Regarding FXS, despite the well-established knowledge of the cognitive-behavioral phenotype and the clear need for scientifically validated programs, research on intervention strategies remains quite limited.\n\nConsidering the similarities between ASD and FXS and the need for standardized interventions, the present research project aims to conduct an RCT to evaluate the feasibility of Cooperative Group Therapy (CGT) in two different groups of adolescents with ASD and FXS. The decision to target the intervention to adolescents is due to the few clinical studies on this age group, which is a crucial target since, in FXS, there is often a plateau or reversal of intellectual and adaptive development after the age of 10, and in adolescents with ASD, the development and complexity of social, pragmatic skills, and executive functions are crucial for good adaptive functioning and a basic quality of life. Te main hypothesis is that CGT could contribute to the reduction of severity illness and in the enhancement of socio-communicative skills.",[28,115],[229,230,231,232,233,234,235,236,237],"intellectual disability","adaptive functioning","quality of life","rare genetic syndrome","Cognitive Behavioral Therapy","CBT","fragile x syndrome","autism spectrum disorder","neuropsychology","2024-11-07",{"date":240,"type":45},"2024-11-08",{"date":242,"type":45},"2022-09-01",{"date":244,"type":22},"2025-12-31",{"name":246,"class":89},"Bambino Gesù Hospital and Research Institute"]