[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"rett-syndrome-with-proven-mecp2-mutation\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:rett-syndrome-with-proven-mecp2-mutation":45},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,87,123],{"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":4,"briefSummary":24,"conditions":25,"keywords":49,"overallStatus":74,"whyStopped":4,"lastUpdateSubmitDate":75,"lastUpdatePostDateStruct":76,"startDateStruct":79,"completionDateStruct":81,"leadSponsor":83,"locationsCount":86},"100630855","intensive-multimodal-neurorehabilitation-targeting-neuroplasticity-in-pediatric-neurodevelopmental-and-chromosomal-disorders-100630855",false,"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.","ALL","4 Years","12 Years",{"count":21,"type":22},100,"ESTIMATED","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.",[26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48],"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)","Fragile X Syndrome (FXS)","RETT Syndrome With Proven MECP2 Mutation","Williams Syndrome","22q11.2 Deletion Syndrome","Sensorimotor Integration",[50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,26,68,69,70,71,72,73],"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","RECRUITING","2026-03-19",{"date":77,"type":78},"2026-03-25","ACTUAL",{"date":80,"type":78},"2026-03-01",{"date":82,"type":22},"2036-12-30",{"name":84,"class":85},"Healing Hope International","OTHER",1,{"id":88,"slug":89,"hasResults":11,"nctId":90,"briefTitle":91,"officialTitle":92,"acronym":93,"eligibilityCriteria":94,"healthyVolunteers":11,"sex":95,"minAge":96,"maxAge":97,"enrollmentInfo":98,"targetDuration":4,"studyType":100,"phases":101,"briefSummary":103,"conditions":104,"keywords":105,"overallStatus":74,"whyStopped":4,"lastUpdateSubmitDate":113,"lastUpdatePostDateStruct":114,"startDateStruct":116,"completionDateStruct":118,"leadSponsor":120,"locationsCount":122},"100626008","phase-2-repurposing-mirtazapine-in-rett-syndrome-100626008","NCT07430046","Repurposing Mirtazapine in Rett Syndrome","Repurposing Mirtazapine in Rett Syndrome: a Multicentric Open Label Phase II Study","MirtaRett","INCLUSION CRITERIA\n\n* 1\\. Female aged 5 to 39 years inclusive, at the time of signing the informed consent.\n* 2\\. Girls of childbearing age negative to pregnancy test;\n* 3\\. Body weight \\> 10 kg. and within the expected range for RTT, based on age and height.\n* 4\\. Diagnosis of RTT based on consensus clinical criteria (Neul, 2010) and a confirmed mutation in MECP2 gene.\n* 5\\. Breathing dysfunction (at least one of the following): period apnoea, intermittent hyperventilation, breath holding spells, air swallowing, forced expulsion of air and \u002For saliva.\n* 6\\. Ten episodes or more\u002Fday of breathing dysfunction during wakefulness in the week prior to the screening visit (parents report).\n\n  7\\. Stable medication regimen for 4 weeks prior to beginning the study (if receiving services - physical, occupational, or speech therapy - subjects must be on a stable regimen of these services for 3 months prior to beginning the study).\n* 8\\. Female patients of childbearing potential must use a highly effective contraceptive method such as combined hormonal contraception (containing estrogen and progestin) associated with ovulation suppression (oral, intravaginal, transdermal); progestin-only hormonal contraception associated with ovulation suppression (oral, injectable, implantable); intrauterine device; hormone-releasing intrauterine system. Sexual abstinence is considered a highly effective contraceptive method if it aligns with the individual's usual lifestyle. Female patients of childbearing potential are to use adequate contraception as recommended by their Health Care Provider.\n* 9\\. Written consent signed by parent\u002Flegal guardian\u002Frepresentative prior to screening visit\n* 10\\. Patient is cooperative, willing to complete the study, and capable of doing so with assistance of a caregiver.\n* 11\\. Caregiver is able to understand the instructions and fully participate.\n\nEXCLUSION CRITERIA\n\nParticipants are excluded from the study if any of the following criteria apply:\n\n* Patient is participating to another investigational clinical trial.\n* Hypersensitivity to MTZ or any of the other ingredients of Mirtapil®.\n* Clinically significant (as determined by the investigator) cardiovascular, respiratory, gastrointestinal, renal, hepatic, haematological pathologies or other pathologies, in addition to those directly related to RTT. In particular, patients with the following parameters will be excluded: leucocyte count is \\\u003C 4000\u002Fmm2; neutrophil count is \\\u003C 2000\u002Fmm3; hyponatremia (\\\u003C 125 mmol\u002FL); renal dysfunction (creatinine \\> 2 X ULN), hepatic dysfunction (AST, ALT, bilirubin \\> 2 X ULN); or if severe diabetes mellitus is present.\n* QTcF interval on the ECG greater than 450 msec\n* Surgery planned during the study.\n* Severe diabetes mellitus (hyperglycaemia with values above 250\u002F300 mg\u002FdL);\n* Pregnancy, breastfeeding.\n* Evidence of clinically significant malnutrition with BMI (or BMI) (kg\u002Fm2) \\\u003C\n* Patients who manifested prior suicidal ideation.","FEMALE","5 Years","40 Years",{"count":99,"type":22},54,"INTERVENTIONAL",[102],"PHASE2","Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by an MECP2 gene mutation on the X chromosome, primarily affecting females. It causes progressive motor and cognitive decline, loss of speech, repetitive hand movements, breathing issues, seizures, and sleep problems. Given RTT's association with reduced monoamine levels, antidepressants like mirtazapine (MTZ) may help.Preclinical studies in MeCP2-mutant mice and early adult RTT trials showed that MTZ improved respiratory, motor, and neurological function, sleep, and mood, prompting this pediatric and young adult study. The MirtaRett trial is a multicenter, open-label, single-arm, phase II study enrolling 54 female RTT patients (ages 5-40), divided into groups of 18 (5-10, 11-17, 18-40 years). It aims to evaluate MTZ's safety and efficacy for mood, sleep, and motor symptoms, particularly hand control. Other ares of investigation include autonomic function, behavior, caregiver burden, clinical severity, and neuronal plasticity and metabolic biomarkers. Patients will receive escalating doses of MTZ oral solution: initial low doses (3.75-15 mg\u002Fday) for two weeks, followed by optimal doses (7.5-30 mg\u002Fday) for six months. Safety, tolerability, and symptoms will be monitored over 10 months (3-month screening, 6-month treatment, 1-month follow-up). The study is conducted at four Italian RTT-specialized hospitals, led by the University of Trieste. Partner sites are in Italy, specifically at the hospitals in Milan, Genova, Siena, and Messina.",[45],[106,107,108,109,110,111,112],"antidepressant","mirtazapine","motor dysfunction","cognitive impairment","sleep disorder","cognitive disability","parent stress","2026-02-17",{"date":115,"type":78},"2026-02-24",{"date":117,"type":78},"2025-07-09",{"date":119,"type":22},"2026-12-31",{"name":121,"class":85},"University of Trieste",4,{"id":124,"slug":125,"hasResults":11,"nctId":126,"briefTitle":127,"officialTitle":128,"acronym":129,"eligibilityCriteria":130,"healthyVolunteers":11,"sex":95,"minAge":18,"maxAge":131,"enrollmentInfo":132,"targetDuration":4,"studyType":100,"phases":134,"briefSummary":136,"conditions":137,"keywords":139,"overallStatus":144,"whyStopped":4,"lastUpdateSubmitDate":145,"lastUpdatePostDateStruct":146,"startDateStruct":148,"completionDateStruct":150,"leadSponsor":152,"locationsCount":86},"100612776","phase-2-efficacy-and-safety-of-nti164-in-children-and-young-adults-with-rett-syndrome-100612776","NCT07257978","Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome","A Phase II\u002FIII Double-blind, Randomised, Placebo-controlled, Crossover Study Investigating the Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome","TRANSCEND","Inclusion Criteria:\n\n1. Females aged 4-25 years of age\n2. Weight ≥12 kg\n3. Classical\u002Ftypical RTT as confirmed with a documented pathogenic variant in the MECP2 gene\n4. At least 6 months post-regression at screening (i.e. no loss or degradation in ambulation, hand function, speech, non-verbal communication, or social skills within 6 months of screening)\n5. Rett Syndrome Clinical Severity Scale rating of 10-36\n6. Clinical Global Impression - Severity of Illness score ≥4\n7. Stable pattern of seizures or has had no seizures within 8 weeks of screening, as determined by the participant's primary physician\n8. Other patient medications must be stable (i.e. no dose adjustments) for at least 8 weeks prior to screening, including steroids, anti-inflammatories, anxiolytics etc\n\nExclusion Criteria:\n\n1. Current clinically significant cardiovascular, endocrine (such as hypo- or hyperthyroidism, type 1 diabetes, or uncontrolled type 2 diabetes), renal, hepatic, respiratory, or gastrointestinal disease (such as coeliac disease or inflammatory bowel disease), or major surgery planned\n2. Known history or symptoms of long QT syndrome\n3. QTcF interval \\>450 milliseconds, history of risk factor for torsades de pointes or clinically significant QT prolongation deemed to increase risk\n4. Currently receiving treatment with DAYBUE™ (Trofinetide)\n5. Currently using other unregistered drugs for the treatment of Rett syndrome, such as Anavex®\n6. Currently using or has used recreational or medicinal cannabis or cannabinoid-based medications, including Sativex® or Epidiolex®, within the 12 weeks prior to screening and is unwilling to abstain for the duration of the trial\n7. A known or suspected hypersensitivity to cannabinoids or any of the excipients\n8. Moderate-severe impairment in hepatic function at screening, defined as serum alanine aminotransferase (ALT) or aspartate aminotransferase (AST) \\> 2 x upper limit of normal (ULN), or total bilirubin (TBL) \\> 2 x ULN. This criterion can only be confirmed once laboratory results are available, participants enrolled into the trial who are later found to meet this criterion will be screen-failed.\n9. Participant is enrolled in another clinical trial within 14 days of screening or becomes enrolled in another clinical trial throughout the duration of this study\n10. Infection and\u002For antibiotic use in the 2 weeks prior to screening (participants can be recruited following 2 weeks without infection and\u002For antibiotic use)","25 Years",{"count":133,"type":22},40,[102,135],"PHASE3","The FENRTT2 study will investigate the efficacy and safety of a medicinal cannabis plant extract with extremely low THC (delta-9-tetrahydrocannabinol), NTI164, on Rett syndrome (RTT) in a crossover design. RTT is a devastating rare genetic condition affecting females and involves debilitating physical and intellectual symptoms. NTI164 is an oil which has demonstrated efficacy in reducing symptoms in several paediatric neurological conditions, including RTT, autism spectrum disorder (ASD), and paediatric acute-onset neuropsychicatric syndrome (PANS). A Phase I\u002FII clinical trial of NTI164 in RTT (FENRTT1\u002FNTIRTT1) showed NTI164 is safe in this population and significantly improved overall clinical severity of illness, as well as core RTT symptoms, including anxiety, mental alertness, communication skills, socialisation\u002Feye contact, and attentiveness. The FENRTT2 study will investigate NTI164 in a larger number of patients, and compare NTI164 to a placebo control. Research tests on patient blood will also be included to further investigate how NTI164 works in the body.",[45,138],"Rett Syndrome",[140,141,142,143],"Rett syndrome","Rett","cannabis","NTI164","NOT_YET_RECRUITING","2025-11-26",{"date":147,"type":78},"2025-12-02",{"date":149,"type":22},"2026-07-01",{"date":151,"type":22},"2028-10-01",{"name":153,"class":154},"Fenix Innovation Group","INDUSTRY"]