[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"prader-willi-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:prader-willi-syndrome":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,18,0,[8,48,75,111,138,165,208,240,291,321,342,363,392,419,442,480,498,550],{"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":29,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":36,"lastUpdatePostDateStruct":37,"startDateStruct":40,"completionDateStruct":42,"leadSponsor":44,"locationsCount":47},"100638258","regulating-together-for-prader-willi-syndrome-a-group-behavioral-therapy-for-emotion-dysregulation-100638258",false,"NCT07607730","Regulating Together for Prader-Willi Syndrome: A Group Behavioral Therapy for Emotion Dysregulation","Adapting a Group Intervention for Emotion Dysregulation in Prader-Willi Syndrome","RT-PWS","Child Participant Inclusion Criteria:\n\n* Ages 13-17.5 years\n* Confirmed genetic diagnosis of Prader-Willi Syndrome\n* Fluent in spoken English\n* Adolescent's use of flexible phrase speech or greater\n* Meeting clinically significant emotional dysregulation criteria\n* Willing to participate in weekly 90-minute group sessions\n* Family is willing to keep prescribed psychiatric medication and outside behavioral interventions stable\n* Parent, guardian, or legally authorized representative must provide written permission on behalf of the participant\n\nChild Participant Exclusion Criteria:\n\n* Initiation of new psychosocial intervention within 30 days prior to first day of treatment\n* Presence of physical aggression in the adolescent directed towards a peer outside the home that resulted in injury within 30 days prior to screening\n* Presence of comorbid major neuropsychiatric illness warranting other treatment approaches\n* Presence of any major sensory impairment that would limit participating in the material including blindness or uncorrected hearing loss\n\nCaregiver Inclusion Criteria:\n\n* Age ≥ 18 years\n* Lives and cares for their child with PWS for \\> 50% of the year\n* Fluent in spoken English\n* Willing to participate in twice weekly 90-minute sessions, including one virtual session weekly\n\nCaregiver Exclusion Criteria:\n\n-Presence of any major sensory impairment that would limit participating in the material including blindness or uncorrected hearing loss","ALL","13 Years","17 Years",{"count":21,"type":22},10,"ESTIMATED","INTERVENTIONAL",[25],"NA","The goal of this study is to help teens with Prader-Willi Syndrome (PWS) and their families learn practical strategies for managing issues like irritability, meltdowns, and anxiety. The main objective of the study is:\n\nTo adapt current Regulating Together materials to create an outpatient group program for emotion dysregulation in Prader-Willi Syndrome (PWS) that will improve psychosocial outcomes for youth with PWS.",[28],"Prader-Willi Syndrome",[28,30,31,32,33,34],"Emotion dysregulation","aggression","anxiety","depression","hyperphagia","RECRUITING","2026-05-26",{"date":38,"type":39},"2026-05-28","ACTUAL",{"date":41,"type":22},"2026-08",{"date":43,"type":22},"2027-11",{"name":45,"class":46},"Children's Mercy Hospital Kansas City","OTHER",1,{"id":49,"slug":50,"hasResults":11,"nctId":51,"briefTitle":52,"officialTitle":53,"acronym":4,"eligibilityCriteria":54,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":55,"enrollmentInfo":56,"targetDuration":4,"studyType":23,"phases":58,"briefSummary":60,"conditions":61,"keywords":62,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":66,"startDateStruct":68,"completionDateStruct":70,"leadSponsor":72,"locationsCount":47},"100619744","phase-2-a-study-of-csti-500-in-patients-with-prader-willi-syndrome-100619744","NCT07348601","A Study of CSTI-500 in Patients With Prader-Willi Syndrome","A Proof-of-Concept Open-Label Clinical Trial to Evaluate the Safety, Tolerability, and Efficacy of CSTI-500 in Participants With Prader-Willi Syndrome","Inclusion Criteria:\n\n1. Generally healthy male and female individuals between the ages of 13 and 50, inclusive\n2. Documented medical record history of PWS confirmed by genetic testing and PWS Nutritional Phase 3\n3. CGI-S score ≥4 at Screening and Baseline (behavioral)\n4. Screening HQ CT total scores ≥ 13\n5. Participants must not be taking SSRI, SNRI, DNRI (bupropion), tricyclic antidepressants, stimulants, antipsychotic medications, and MAO inhibitors within 30 days of screening and willing to not start taking these medications while on the study. Fluoxetine is exclusionary unless treatment has been discontinued \\>6 months prior to Screening.\n6. Caregiver\u002Fparent must agree to bring the subject to the site for the visits, remain with the subject during visit times when allowed and respond to any questions.\n7. Caregiver\u002Fparent is willing to provide informed consent and agrees to adhere to required study procedures including telemedicine visits, visit duration requirements, and offer consistent care.\n8. Caregivers must agree to complete all study required assessments.\n9. Participants who cannot consent for themselves and are able will provide assent.\n10. Female participants must not be pregnant or lactating. Nonpregnancy will be confirmed for all females by a urine pregnancy test conducted at Screening and at the Baseline Visit prior to enrollment into the study. If of childbearing potential, the subject\u002Fcaregiver agrees to the use of one of the accepted contraceptive regimens from Screening to the first administration of the study medication, during the study, and for at least 30 days after the last dose of the study medication. An acceptable method of contraception includes one of the following:\n\n    1. Hormonal contraceptives (birth control pills, injectable\u002Fimplant\u002Finsertable hormonal birth control products, transdermal patch)\n    2. Intrauterine device (with or without hormones)\n    3. OR agrees to use a double barrier method (e.g., condom and spermicide) during the study and for at least 30 days after the last dose of the study medication.\n    4. The investigator can use their judgement and familiarity with the participant's preferred and usual lifestyle to understand which form of birth control would be the best and also to determine if abstinence is an option that would achieve 100% effectiveness.\n11. If the female is of non-childbearing potential -surgically sterile (i.e., has undergone complete hysterectomy, bilateral oophorectomy, or tubal ligation) or is postmenopausal (at least 1 year without menses) as confirmed by follicle-stimulating hormone (FSH) levels of ≥ 40 mIU\u002FmL. No contraceptive use is required.\n12. Unless, sterile, a male study subject\u002Fcaregiver must agree to use a double barrier method (e.g., condom and spermicide).\n13. For adults, supine systolic blood pressure must be ≤140 mmHg and ≥100 mmHg; diastolic blood pressure must be ≤80 mmHg and ≥60 mmHg at Screening. Heart rate must be ≥50 bpm and ≤100 bpm. Heart rate increase on standing must be within acceptable range (see exclusion criterion 10).\n\n    For adolescents, a systolic and diastolic BP that is between the 5th and 90th percentile for age and sex.\n\n    a. Two repeat measurements within 10 minutes of the first reading are permitted at the discretion of the Investigator. If this option is used, the last obtained reading will be used for determination of eligibility. Averages will not be used.\n14. All concomitant medications including blood pressure medications and type 2 diabetic medications must be stable for ≥3 months prior to screening (≤10% change) and there must be no medication changes (dose change, initiation, discontinuation) intentionally planned during the study. Supplements and vitamins are not considered concomitant medications for eligibility purposes.\n15. Stated willingness to comply with all study procedures including visits, restrictions, and availability for the duration of the study.\n\nExclusion Criteria:\n\n1. Participation in any clinical study with an investigational drug\u002Fdevice within 3 months prior to screening or during the study\n2. PWS diagnosis of UPD (maternal uniparental disomy).\n3. Current use of DCCR or if used previously, must be off at least 4 weeks before screening.\n4. Recent use (within 3 months) of weight loss agents including prescription, herbal medications, and weight loss supplements. Ozempic, for diabetes, would be exclusionary due to its effect on weight loss.\n5. History of bariatric surgery or major surgery within 6 months of screening or planned during the study.\n6. Any malignancy in the 2 years prior to screening (excluding basal cell carcinoma or squamous cell carcinoma of the skin or cervical carcinoma in situ that have been successfully treated).\n7. Current liver, pulmonary, cardiac, or GI disease that would be expected to adversely affect study participation. Stable disease, e.g., asthma or controlled hypertension is not excluded. Liver disease or liver injury as indicated by abnormal liver function tests, ALT, AST, alkaline phosphatase, or serum bilirubin (≥3X ULN for any of these tests).\n\n   a. Participants with impaired liver function (Child-Pugh Scores A, B, C)\n8. Unexplained history or presence of combination of unexplained symptoms e.g., dizziness, syncope, fatigue, palpitations\u002Ftachycardia, headaches, or exercise intolerance.\n9. Prohibited Medications include SSRI, SNRI, DNRI (bupropion), tricyclic antidepressants, stimulants, antipsychotics, MAO inhibitors, fluoxetine, mood stabilizers, and GLP-1 agonists\n10. Presence of postural orthostatic tachycardia syndrome (POTS) for any reason, defined as:\n\n    1. For participants aged 19 or older, sustained heart rate increase of \\>30 bpm or an increase to 120 bpm or greater within 3 minutes of standing.\n    2. For participants aged 13-19, a sustained heart rate increase of \\>40 bpm or an increase to 120 bpm or greater within 3 minutes of standing.\n    3. Associated with related symptoms that are worse with upright posture and that improve with recumbence.\n11. A clinically significant abnormal finding on 12-lead electrocardiogram (ECG) at Screening. Note QT corrected according to Fridericia's formula (QTcF) interval of ≥450 msec will be exclusionary \\[QTc = QT\u002F(RR\\^0.33)\\]. The ECG may be repeated once for confirmatory purposes if initial values obtained exceed the limits specified.\n12. Any clinically significant cardiac arrhythmia (e.g., atrial fibrillation, Adams-Stokes's disease, Wolff-Parkinson-White syndrome, atrioventricular block 2nd or 3rd degree).\n13. Heart failure classified per the New York Heart Association (NYHA) as level II or greater.\n14. Myocardial infarction, stroke, or confirmed TIA within the last 5 years.\n15. Estimated glomerular filtration rate (eGFR) ≤ 90 mL\u002Fmin\u002F1.73m² for ages 13 to \\\u003C18 years of age. For adults ≥18 years of age, body-surface area corrected eGFR and exclusion with eGFR \\\u003C90 mL\u002Fmin.\n16. Uncontrolled Type 2 diabetes as defined by HbA1c ≥ 9% at Screening.\n17. Insulin-dependent Type 1 diabetes.\n18. Positive screen for hepatitis B surface antigen (HBsAg), hepatitis C virus (HCV) antibodies with detected circulating ribonucleic acid (RNA), or HIV 1 and 2 antibodies.\n19. Uncontrolled thyroid disease.\n20. Known hypersensitivity to any component of investigational product.\n21. History or active psychotic symptoms, or medical conditions which the investigator believes will interfere significantly with study compliance. Participants with a history of other severe psychiatric disorders, e.g., schizophrenia, major depressive disorder, bipolar disorder, or other DSM-V disorders.\n22. History of any suicidal behavior.\n23. Known alcohol or substance abuse.\n24. Moderate to strong inhibitors\u002Finducers of CYP2D6, CYP3A4 and CYP2C9, including grapefruit juice. Substrates of CYP1A2 and CYP2B6.\n25. Any other medical, physical, or personal issues which, in the opinion of the investigator, would interfere with the subject's ability to complete the trial per protocol.\n26. Inability to swallow the oral capsules whole with water.","50 Years",{"count":57,"type":22},12,[59],"PHASE2","This is a proof-of-concept, open-label, dose-escalation study to evaluate the safety, tolerability, pharmacokinetics, and efficacy of CSTI-500 in participants with genetically confirmed Prader-Willi Syndrome (PWS) who are 13 to 50 years of age. Participants will receive increasing doses of CSTI-500, and blood levels will be measured to guide individualized dosing.",[28],[63,28,64],"PWS","CSTI-500","2026-05-13",{"date":67,"type":39},"2026-05-15",{"date":69,"type":22},"2026-05",{"date":71,"type":22},"2027-06",{"name":73,"class":74},"ConSynance Therapeutics","INDUSTRY",{"id":76,"slug":77,"hasResults":11,"nctId":78,"briefTitle":79,"officialTitle":80,"acronym":81,"eligibilityCriteria":82,"healthyVolunteers":11,"sex":17,"minAge":83,"maxAge":84,"enrollmentInfo":85,"targetDuration":4,"studyType":23,"phases":87,"briefSummary":88,"conditions":89,"keywords":95,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":104,"startDateStruct":105,"completionDateStruct":107,"leadSponsor":109,"locationsCount":47},"100511439","impact-of-bright-light-therapy-on-prader-willi-syndrome-100511439","NCT05939453","Impact of Bright Light Therapy on Prader-Willi Syndrome","A Randomized, Double-Blind, Controlled Trial of Bright Light Therapy on All-Cause Excessive Daytime Sleepiness in Prader-Willi Syndrome","PWS-LT","Inclusion Criteria:\n\n* Diagnosis of PWS confirmed by genetic testing\n* Score of 12 or above on the Epworth Sleepiness Scale (ESS).\n\nExclusion Criteria:\n\n* Subjects with an eye condition that could be negatively affected by bright light such as patients with a history of retinal damage or patients needing photosensitizing medications\n* A history of previous treatment with LT\n* Patients presenting with active psychosis or mania","6 Years","88 Years",{"count":86,"type":22},50,[25],"This is a placebo controlled clinical trial to assess the utility of light therapy as a sufficient treatment for excessive daytime sleepiness in patients with Prader-Willi Syndrome",[28,90,91,92,93,94],"Excessive Daytime Sleepiness","Hyperphagia","Body Weight","Mood","Behavior",[96,97,98,99,100,101,102,103],"Light Therapy","Aberrant Behavior Checklist","Clinical Global Impression- Improvement","Fitbit","Actigraphy reports","Epworth Sleepiness Scale","Hyperphagia Questionnaire (HQCT)","Modified Overt Aggression Scale (MOAS)",{"date":67,"type":39},{"date":106,"type":39},"2023-10-01",{"date":108,"type":22},"2026-12",{"name":110,"class":46},"Maimonides Medical Center",{"id":112,"slug":113,"hasResults":11,"nctId":114,"briefTitle":115,"officialTitle":116,"acronym":4,"eligibilityCriteria":117,"healthyVolunteers":11,"sex":17,"minAge":118,"maxAge":119,"enrollmentInfo":120,"targetDuration":4,"studyType":23,"phases":122,"briefSummary":123,"conditions":124,"keywords":125,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":129,"lastUpdatePostDateStruct":130,"startDateStruct":132,"completionDateStruct":134,"leadSponsor":136,"locationsCount":47},"100500080","the-intervention-of-obesity-in-children-with-prader-willi-syndrome-using-prebiotics-and-probiotics-100500080","NCT05791604","The Intervention of Obesity in Children With Prader-Willi Syndrome Using Prebiotics and Probiotics","The Safety and Effectiveness Study of Prebiotics and Probiotics in the Intervention of Obesity in Children With Prader-Willi Syndrome","Inclusion Criteria:\n\n* Pre-adolescent children with Prader Willi syndrome which were definitely diagnosed by gene testing.\n* Consistent with the diagnostic criteria for obesity.\n* Not participate in other research projects at present or three months before the research;\n* Agree to participate in the test and obtain the consent of their parents; voluntarily be the subjects and sign the informed consent form.\n\nExclusion Criteria:\n\n* Losing weight in ways other than the intervention measures of this project, such as taking weight loss drugs or known drugs that cause weight change;\n* Use antibiotics within 1 month before the study and lasted for 3 days or more;\n* Use probiotics within 1 month before the study and lasted for 3 days or more;\n* Complicated with liver and renal insufficiency (alanine aminotransferase and serum creatinine indexes exceed 2 times the upper limit of the normal value set by the hospital);\n* Have gastrointestinal diseases affecting food digestion and absorption (such as severe diarrhea, constipation, severe gastrointestinal inflammation, active gastrointestinal ulcer, acute cholecystitis, etc.); severe diarrhea refers to watery stool 3 or more times a day and lasts for 3 or more days. severe constipation refers to defecation 2 or less times a week with difficulty in defecation;\n* Surgery was performed within 1 year before the study (except for appendicitis and hernia surgery);\n* Have hepatitis B, active tuberculosis, AIDS and other infectious diseases;\n* Those who are suffering from mental illness and are taking psychotropic drugs such as antidepressants.","3 Years","10 Years",{"count":121,"type":22},60,[25],"Prader-Willi syndrome (PWS) is a rare genetic disease, with hyperappetite and severe obesity. At present, there is no effective drugs and interventions to help control the appetite of PWS patients. More and more evidence has shown that gut microbiota is closely related to obesity. Probiotics and prebiotics can improve the structure of gut microbiota, thus improve blood lipid levels and other biochemical indicators of obese people. Therefore, this study intends to explore the effectiveness and safety of probiotics and prebiotics in controlling appetite and weight gain of PWS children.",[28],[126,127,128],"Prader-Willi syndrome","Probiotics","Prebiotics","2026-03-24",{"date":131,"type":39},"2026-03-27",{"date":133,"type":39},"2023-04-01",{"date":135,"type":22},"2026-07-31",{"name":137,"class":46},"Children's Hospital of Fudan University",{"id":139,"slug":140,"hasResults":11,"nctId":141,"briefTitle":142,"officialTitle":143,"acronym":4,"eligibilityCriteria":144,"healthyVolunteers":11,"sex":17,"minAge":83,"maxAge":4,"enrollmentInfo":145,"targetDuration":4,"studyType":23,"phases":147,"briefSummary":149,"conditions":150,"keywords":151,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":155,"lastUpdatePostDateStruct":156,"startDateStruct":158,"completionDateStruct":160,"leadSponsor":162,"locationsCount":164},"100544252","phase-3-a-study-of-pitolisant-in-patients-with-prader-willi-syndrome-100544252","NCT06366464","A Study of Pitolisant in Patients With Prader-Willi Syndrome","A Phase 3, Randomized, Double-Blind, Placebo-controlled, Efficacy and Safety Study of Pitolisant Followed by an Open-Label Extension in Patients With Prader-Willi Syndrome","Inclusion Criteria:\n\n* Genetically confirmed diagnosis of PWS\n* Excessive daytime sleepiness\n* Has a consistent parent\u002Fcaregiver (preferably the same person throughout the study) who is willing and able to complete the required study assessments.\n* In the opinion of the Investigator, the patient\u002Fparent(s)\u002Fcaregiver(s)\u002Flegal guardian(s) are capable of understanding and complying with the requirements of the protocol and administration of oral study drug.\n\nExclusion Criteria:\n\n* Has a diagnosis of sleep apnea (OSA, CSA) that is not adequately controlled\n* Has a diagnosis of hypersomnia due to another sleep\u002Fmedical disorder\n* Participation in an interventional research study involving another investigational medication, device, or behavioral treatment within 30 days or 5 half-lives (whichever is longer) of the investigational medication prior to Screening",{"count":146,"type":22},134,[148],"PHASE3","This is a Phase 3, randomized, double-blind, placebo-controlled, multicenter, global clinical study to assess the efficacy and safety of pitolisant in patients living with Prader-Willi syndrome.\n\nThe primary objective of this study is to evaluate the efficacy of pitolisant in treating excessive daytime sleepiness (EDS) in patients ≥6 years of age with Prader-Willi syndrome.\n\nSecondary objectives include assessing the impact of pitolisant on:\n\nIrritable and disruptive behaviors Hyperphagia Other behavioral problems including social withdrawal, stereotypic behavior, hyperactivity\u002Fnoncompliance, and inappropriate speech",[28],[152,153,154,126],"pitolisant","excessive daytime sleepiness","irritable and disruptive behaviors","2026-03-13",{"date":157,"type":39},"2026-03-17",{"date":159,"type":39},"2024-05-28",{"date":161,"type":22},"2027-07",{"name":163,"class":74},"Harmony Biosciences Management, Inc.",54,{"id":166,"slug":167,"hasResults":11,"nctId":168,"briefTitle":169,"officialTitle":170,"acronym":171,"eligibilityCriteria":172,"healthyVolunteers":173,"sex":17,"minAge":174,"maxAge":4,"enrollmentInfo":175,"targetDuration":4,"studyType":23,"phases":177,"briefSummary":178,"conditions":179,"keywords":192,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":198,"lastUpdatePostDateStruct":199,"startDateStruct":201,"completionDateStruct":203,"leadSponsor":205,"locationsCount":207},"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.",true,"18 Years",{"count":176,"type":22},376,[25],"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.",[180,181,182,183,184,185,186,187,28,188,189,190,191],"Intellectual Disability","Neurodevelopmental Disorders","Autism Spectrum Disorder","Down Syndrome","Fragile X Syndrome","Cri-du-Chat Syndrome","De Lange Syndrome","Mental Retardation, X-Linked","Rubinstein-Taybi Syndrome","Trisomy 13 Syndrome","WAGR Syndrome","Williams Syndrome",[193,194,195,196,197],"physical activity","intellectual disability","age-associated memory impairment","aging","Alzheimer Disease prevention","2026-02-19",{"date":200,"type":39},"2026-02-23",{"date":202,"type":39},"2025-01-10",{"date":204,"type":22},"2028-06",{"name":206,"class":46},"University of North Carolina, Chapel Hill",2,{"id":209,"slug":210,"hasResults":11,"nctId":211,"briefTitle":212,"officialTitle":213,"acronym":214,"eligibilityCriteria":215,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":216,"targetDuration":4,"studyType":218,"phases":4,"briefSummary":219,"conditions":220,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":229,"lastUpdatePostDateStruct":230,"startDateStruct":232,"completionDateStruct":234,"leadSponsor":236,"locationsCount":239},"100511909","idmet-radico-cohort-radico-idmet-100511909","NCT05945576","IDMet (RaDiCo Cohort) (RaDiCo-IDMet)","National Cohort on Imprinting Disorders and Their Metabolic Consequences","IDMet","Inclusion Criteria:\n\n* Patients (adults and children) affected with an ID regardless of the severity of the disease\n* A confirmed diagnosis of ID (based on molecular diagnosis)\n* A signed informed consent for adults or signed informed consent of parents\u002Fguardians of minors\u002F protected adult.\n\nNon-Inclusion Criteria:\n\nThere are no non-inclusion criteria.",{"count":217,"type":22},2000,"OBSERVATIONAL","The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center.\n\nThe main questions it aims to answer are:\n\n* Can we identify common metabolic profiles for all imprinted diseases?\n* Which imprinting disorders have an impact on the metabolic profiles of IDs?\n* Which are the metabolic risks associated to IDs?\n* Can we use the metabolic profiles for the clinical classification and prognosis of IDs?\n* Are there common therapeutic approaches for all IDs?",[221,222,223,224,28,225,226,227,228],"Silver Russell Syndrome","Beckwith-Wiedemann Syndrome","Transient Neonatal Diabetes Mellitus","Angelman Syndrome","Temple Syndrome","Kagami-Ogata Syndrome","Pseudohypoparathyroidism","Familial Precocious Puberty","2026-02-10",{"date":231,"type":39},"2026-02-12",{"date":233,"type":39},"2017-03-10",{"date":235,"type":22},"2028-03",{"name":237,"class":238},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",20,{"id":241,"slug":242,"hasResults":11,"nctId":243,"briefTitle":244,"officialTitle":245,"acronym":4,"eligibilityCriteria":246,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":247,"targetDuration":119,"studyType":218,"phases":4,"briefSummary":249,"conditions":250,"keywords":276,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":282,"lastUpdatePostDateStruct":283,"startDateStruct":285,"completionDateStruct":287,"leadSponsor":289,"locationsCount":47},"100560175","institutional-registry-of-rare-diseases-100560175","NCT06573723","Institutional Registry of Rare Diseases","Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)","Inclusion Criteria:\n\n* Clinical and\u002For molecular diagnosis of any of the following rare diseases: Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia, Inflammatory Bowel Diseases, Prader-Willi Syndrome, Hirschsprung Disease, or Cushing Syndrome.\n* Must be followed at Hospital Italiano de Buenos Aires.\n\nExclusion Criteria:\n\n\\- Refusal to participate in the study or in the informed consent process.",{"count":248,"type":22},380,"The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).\n\nMoreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.",[251,252,253,254,255,256,257,258,259,260,261,262,263,264,265,266,267,268,269,270,271,28,272,273,274,275],"Rare Diseases","Amyloidosis","Sarcoidosis","Phacomatosis","Pheochromocytoma","Paraganglioma","Von Hippel-Lindau Disease","Immunoglobulin G4-Related Disease","Demyelinating Diseases","Inborn Errors of Metabolism","Eosinophilic Gastrointestinal Disorders","Hypertrophic Cardiomyopathy","Gaucher Disease","Congenital Adrenal Hyperplasia","Hereditary Angioedema","Pulmonary Hypertension","Wilson Disease","Vascular Anomalies","Mastocytosis","Multiple Endocrine Neoplasia","Inflammatory Bowel Diseases","Hirschsprung Disease","Cushing Syndrome","HHT","Hemorrhagic Hereditary Telangiectasia",[277,278,279,254,280,281,257,258,259,260,261,262,263,264,265,266,267,268,269,270,271,28,272,273,275],"rare diseases","amyloidosis","sarcoidosis","pheochromocytoma","paraganglioma","2026-01-12",{"date":284,"type":39},"2026-01-14",{"date":286,"type":39},"2024-07-01",{"date":288,"type":22},"2034-12-31",{"name":290,"class":46},"Hospital Italiano de Buenos Aires",{"id":292,"slug":293,"hasResults":11,"nctId":294,"briefTitle":295,"officialTitle":296,"acronym":4,"eligibilityCriteria":297,"healthyVolunteers":173,"sex":17,"minAge":298,"maxAge":299,"enrollmentInfo":300,"targetDuration":4,"studyType":23,"phases":302,"briefSummary":304,"conditions":305,"keywords":307,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":311,"lastUpdatePostDateStruct":312,"startDateStruct":314,"completionDateStruct":316,"leadSponsor":318,"locationsCount":320},"100534460","phase-1-a-study-of-rm-718-in-healthy-subjects-and-patients-with-mc4r-pathway-impairment-100534460","NCT06239116","A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment","A Study of RM-718 Weekly Formulation in Healthy Subjects With Obesity and in Patients With Obesity Due to MC4R Impairment","Key Inclusion Criteria:\n\nParts A and B:\n\n* Male and female subjects in good health aged 18-55 years of age at Screening.\n* Body mass index (BMI) ≥30 kg\u002Fm2.\n* Subjects who are medically healthy with normal or clinically insignificant screening results.\n* Subjects must use a highly effective form of contraception and follow the study contraception requirements.\n* Ability to communicate well with the Investigator, understand and comply with the requirements of the trial, and understand English and sign the written informed consent.\n\nPart C:\n\n* Male and female patients with HO, aged 12-65 years of age at Screening.\n* Patient has documented evidence of acquired HO defined as:\n\n  * Diagnosis of craniopharyngioma or other brain lesion affecting the hypothalamic region and has undergone surgery, or chemotherapy, or radiation therapy involving the hypothalamus at least 6 months before Screening, OR\n  * Documented injury to the hypothalamus at least 6 months before Screening for which surgery\u002Fradiation is not indicated.\n* Weight gain associated with the hypothalamic injury either before or following therapy (surgery and\u002For following chemotherapy or radiotherapy), and a BMI of ≥30 kg\u002Fm2 for patients ≥18 years of age or BMI ≥95th percentile for age and sex for patients 12 to \\\u003C18 years of age.\n* Patients must use a highly effective form of contraception and follow the study contraception requirements.\n* Ability to communicate with the Investigator, understand and comply with the requirements of the trial, and understand and sign the written informed consent and assent (for patients aged \\\u003C18 years), and informed consent for a parent or guardian of any patient \\\u003C18.\n\nPart D:\n\n* Confirmed diagnosis of PWS as determined by the Investigator at the time of Screening.\n* Age ≥12 to 65, inclusive, at the time of signing Informed Consent and\u002For Assent.\n* BMI ≥30 kg\u002Fm2 for patients ≥18 years of age or BMI ≥95th Percentile for age and sex for patients \\\u003C18 years of age based on the US CDC criteria.\n* Able to meet contraception requirements.\n\nKey Exclusion Criteria:\n\nParts A and B\n\n* Any clinically significant abnormalities on screening laboratories or physical examination as determined by the Investigator.\n* Active or history of any significant medical condition such as and including renal, hepatic, pulmonary, gastrointestinal, cardiovascular, genitourinary, endocrine, immunologic, metabolic, neurologic or hematological disease.\n* Obesity due to genetic, syndromic, or endocrine etiologies.\n* History of renal transplant, end stage renal disease.\n* Diagnosis of severe psychiatric disorders.\n* Current, clinically significant pulmonary, cardiac, metabolic, or oncologic disease considered severe enough to interfere with the trial and\u002For confound the results.\n* Cigarette smoking or dependence on caffeine, alcohol or drugs; unable or unwilling to abstain completely from caffeine, alcohol and related substances for 24 hours prior to and after study visits.\n* History of recent surgery (within 60 days of Screening).\n* Participation in any clinical trial with an investigational drug\u002Fdevice within 3 months or 5 half-lives, whichever is longer, prior to the first trial dose.\n* Pregnant and\u002For breastfeeding or desiring to become pregnant during this trial.\n\nPart C\n\n* Diagnosis of Prader-Willi syndrome (PWS) or Rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, neuroendocrine tumor syndrome (ROHHADNET).\n* Weight loss \\>2% in the previous 3 months for patients aged ≥18 years or \\>2% reduction in BMI for patients aged 12 to \\\u003C18 years and\u002For anti-obesity medications for the treatment of obesity.\n* Bariatric surgery or procedure within the last 2 years.\n* Diagnosis of severe psychiatric disorders; any suicidal ideation, attempt or behavior.\n* Current, clinically significant pulmonary, cardiac, metabolic, or oncologic disease considered severe enough to interfere with the trial and\u002For confound the results.\n* History of renal transplant, end stage renal disease.\n* Participation in any clinical trial with an investigational drug\u002Fdevice within 3 months or 5 half-lives, whichever is longer, prior to the first trial dose, or previous participation in a trial with setmelanotide.\n* Pregnant and\u002For breastfeeding or desiring to become pregnant during this trial.\n* Obesity attributable to other genetic or syndromic conditions (eg, PPL \\[pro-opiomelanocortin (POMC), proprotein convertase subtilisin\u002Fkexin type 1 (PCSK1), leptin receptor (LEPR), collectively\\], Bardet-Biedl syndrome \\[BBS\\]) prior to the hypothalamic injury.\n\nPart D\n\n* Weight loss \\>2% in the previous 3 months for patients aged ≥18 years or \\>2% reduction in BMI for patients aged 12 to \\\u003C18 years or therapies for the treatment of obesity or hyperphagia.\n* Metabolic and bariatric surgery (MBS) or procedure within last 6 months.\n* Diagnosis of severe psychiatric disorders; any suicidal ideation, attempt or behavior.\n* Current, clinically significant pulmonary, cardiac, metabolic, or oncologic disease considered severe enough to interfere with the trial and\u002For confound the results.\n* Pregnant and\u002For breastfeeding or desiring to become pregnant during this trial.\n\nOther protocol defined Inclusion\u002FExclusion criteria may apply.","12 Years","65 Years",{"count":301,"type":22},150,[303,59],"PHASE1","The purpose of this study is to evaluate the safety, tolerability, and PK of RM-718 in healthy subjects with obesity and in patients with MC4R Pathway Impairment",[306,28,63],"Hypothalamic Obesity",[308,309,310],"melanocortin 4 receptor (MC4R)","MC4R agonism","obesity","2025-12-18",{"date":313,"type":39},"2025-12-22",{"date":315,"type":39},"2024-03-05",{"date":317,"type":22},"2028-11-01",{"name":319,"class":74},"Rhythm Pharmaceuticals, Inc.",7,{"id":322,"slug":323,"hasResults":11,"nctId":324,"briefTitle":325,"officialTitle":326,"acronym":4,"eligibilityCriteria":327,"healthyVolunteers":11,"sex":17,"minAge":174,"maxAge":328,"enrollmentInfo":329,"targetDuration":4,"studyType":23,"phases":330,"briefSummary":331,"conditions":332,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":333,"lastUpdatePostDateStruct":334,"startDateStruct":336,"completionDateStruct":338,"leadSponsor":340,"locationsCount":47},"100511369","cerebellar-tms-and-satiety-in-prader-willi-syndrome-100511369","NCT05938543","Cerebellar TMS and Satiety in Prader-Willi Syndrome","Noninvasive Neuromodulation of a Novel Cerebellar Satiety Circuit in Prader-Willi Syndrome","Inclusion Criteria:\n\n* Diagnosis of Prader-Willi syndrome\n\nExclusion Criteria:\n\n* contraindications for TMS or MRI including :\n* history of neurological disorder\n* history of head trauma resulting in loss of consciousness\n* history of seizures or diagnosis of epilepsy or first degree relative family history of epilepsy\n* metal in brain or skull\n* implanted devices such as a pacemaker, medication pump, nerve stimulator or ventriculoperitoneal shunt claustrophobic in MRI","64 Years",{"count":239,"type":22},[25],"This study uses a noninvasive technique called transcranial magnetic stimulation (TMS) to study hyperphagia and satiety in Prader-Willi syndrome.\n\nTMS is a noninvasive way of stimulating the brain, using a magnetic field to change activity in the brain. The magnetic field is produced by a coil that is held next to the scalp. In this study, the investigators will be stimulating the brain to learn more about how TMS might improve hyperphagia in Prader-Willi syndrome.",[28],"2025-12-01",{"date":335,"type":39},"2025-12-05",{"date":337,"type":39},"2023-09-01",{"date":339,"type":22},"2026-10",{"name":341,"class":46},"Brigham and Women's Hospital",{"id":343,"slug":344,"hasResults":11,"nctId":345,"briefTitle":346,"officialTitle":347,"acronym":4,"eligibilityCriteria":348,"healthyVolunteers":11,"sex":17,"minAge":174,"maxAge":299,"enrollmentInfo":349,"targetDuration":4,"studyType":23,"phases":351,"briefSummary":352,"conditions":353,"keywords":4,"overallStatus":354,"whyStopped":4,"lastUpdateSubmitDate":355,"lastUpdatePostDateStruct":356,"startDateStruct":357,"completionDateStruct":359,"leadSponsor":361,"locationsCount":207},"100613417","phase-2-a-2-part-study-to-assess-efficacy-safety-and-tolerability-of-bmb-101-for-the-treatment-of-patients-with-prader-willi-syndrome-100613417","NCT07266324","A 2-Part Study to Assess Efficacy, Safety and Tolerability of BMB-101 for the Treatment of Patients With Prader-Willi Syndrome.","A Randomized, Double-Blind, Placebo-Controlled Phase 2 Study to Assess Efficacy, Safety and Tolerability of BMB-101 Oral Solution for the Treatment of Patients With Prader-Willi Syndrome (PWS)","Inclusion Criteria:\n\n* Participant must be aged 18-65 years (both inclusive).\n* Genetically confirmed diagnosis of Prader Willi Syndrome via standard DNA testing or other commonly approved methods.\n* Willing and able to provide voluntary written informed consent, or have a Legally Authorized Representative who is able to provide consent.\n* Moderate to severe hyperphagia as defined by a HQ-CT score ≥ 13 at time of randomization (Visit 3).\n* If participant is receiving growth hormone, the subject must be on the same medication and stable dose for at least 90 days prior to Visit 1.\n* Female participant of childbearing potential must have a negative urine pregnancy test at baseline. Participants of childbearing or child-fathering potential must be willing to use medically acceptable forms of birth control, which includes abstinence, while in this study and for 90 days after the last dose of study drug.\n* Participant and\u002For caregiver has the ability to be compliant with study requirements, including visit schedule, diary completion and study drug accountability.\n* If a caregiver assists in completion of questionnaires, the same caregiver is available to complete the questionnaires throughout the duration of the study.\n\nExclusion Criteria:\n\n* Participant has used metabolic agents known to affect appetite within 3 months of Visit 1.\n* Participant use of psychotropic medications including SSRIs\u002FSNRIs, monoamine-oxidase inhibitors, tricyclic antidepressants, other serotonergic agonists or antagonists (antipsychotics), and other agents which have known Serotonin Syndrome risk (e.g. mirtazapine) within 1 month of Visit 1.\n* Participant has implementation of new food restrictions or new environmental restrictions within 1 month of Visit 1.\n* Participant has participated in an interventional clinical trial of any Prader-Willi Syndrome agent within 3 months of Visit 1 or any other investigational agent within 1 month of Visit 1.\n* Participant has current or past history of cardiovascular or cerebrovascular disease, such as cardiac valvulopathy, pulmonary hypertension, myocardial infarction or stroke, or clinically significant structural cardiac abnormality.\n* Participant has moderate or severe hepatic impairment. Asymptomatic participants with mild hepatic impairment (elevated liver enzymes \\\u003C 3x upper limit of normal (ULN) and\u002For elevated bilirubin \\\u003C2x ULN) may be entered into the study after review and approval by the Medical Monitor in conjunction with the sponsor, in consideration of comorbidities and concomitant medications.\n* Participant has severe renal impairment (estimated glomerular filtration rate \\\u003C30mL\u002Fmin\u002F1.73m2).\n* Participant has clinically significant ECG abnormality such as QTcF \\>450 msec (males) or \\>470 msec (females).\n* Participant has a history of drug or alcohol abuse within the last 12 months or a positive urine drug screen.\n* A current C-SSRS score of 4 or 5 at Visit 1 or history of suicide attempt at any time during the past year.\n* Participant has a clinically significant condition or has had clinically relevant symptoms or a clinically significant illness in the 4 weeks prior to Visit 1, other than PWS, that would negatively impact study participation, collection of study data, evaluation of study endpoints or pose a risk to the participant, in the opinion of the Investigator.\n* Participant is pregnant (determined by a positive urine pregnancy test) or lactating female.\n* Any condition that is thought to be a degenerative neurological disease.",{"count":350,"type":22},16,[59],"The goal of this clinical trial is to evaluate the safety and effects of a new drug called BMB-101 in people with Prader-Willi Syndrome (PWS). This study is designed as a multi-centre, double-blind, randomized, placebo controlled 2-part study with a blinded main phase followed up an open label extension phase.",[28],"NOT_YET_RECRUITING","2025-11-24",{"date":335,"type":39},{"date":358,"type":22},"2026-01",{"date":360,"type":22},"2027-03",{"name":362,"class":74},"Bright Minds Biosciences Pty Ltd",{"id":364,"slug":365,"hasResults":11,"nctId":366,"briefTitle":367,"officialTitle":368,"acronym":4,"eligibilityCriteria":369,"healthyVolunteers":11,"sex":17,"minAge":174,"maxAge":370,"enrollmentInfo":371,"targetDuration":4,"studyType":23,"phases":373,"briefSummary":375,"conditions":376,"keywords":378,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":383,"lastUpdatePostDateStruct":384,"startDateStruct":386,"completionDateStruct":388,"leadSponsor":389,"locationsCount":391},"100585352","phase-4-tirzepatide-in-pws-ho-and-gnso-100585352","NCT06901245","Tirzepatide in PWS, HO and GNSO","The Effects of Tirzepatide in Young Adults With Prader-Willi Syndrome, Hypothalamic Obesity and General Non-Syndromic Obesity","Inclusion Criteria:\n\n* Individuals 18-26 years with a BMI in the obesity range (BMI ≥95th percentile for age and sex or ≥30 kg\u002Fm2) with either 1) genetically confirmed diagnosis of PWS, 2) hypothalamic obesity as defined by damage to the medial hypothalamic region resulting in dysregulation of satiety and energy balance as diagnosed by a physician, 3) general obesity unrelated to a genetic syndrome or underlying medical condition\n* In a stable care setting at least 6 months prior to enrollment\n* Able and willing to participate in study visits including tolerating blood draws, urine samples and tolerate DXA scan.\n* Ability to take weekly subcutaneous tirzepatide\n* Consistent caregiver if they are not independent\n* Stable diet and exercise regimen for at least 6 months prior to enrollment\n* Able to use contraceptive methods if able to conceive offspring in order to prevent unintentional pregnancy during the study\n\nExclusion Criteria:\n\n* Current or recent (within 3 months of start of study drug initiation) use of weight loss medications\n* Current use of insulin or sulfonylurea or other medication affecting insulin secretion or GLP1 clearance\n* Current or prior use of any GLP1A or DPP4 inhibitor during the 6 months before screening\n* Any medications that may affect the study endpoints\n* Significant weight change (\\>3% weight gain or loss) in the last 2 months prior to enrollment\n* Change in dose of chronic endocrine medications (testosterone, estrogen, levothyroxine, or growth hormone medications) \\>10%\u002Fkg\u002Fday for at least 3 months prior to study\n* Current pregnancy or desire to become pregnant within study period, current lactation\n* History of recurrent pancreatitis, CKD, gastroparesis\n* Chronic\u002Facute heart, kidney, or liver disease\n* Personal or family history of medullary thyroid carcinoma or MEN syndrome type 2\n* Uncontrolled diabetes (A1C \\>8.5%)\n* DVT\n* Cancer within the previous 5 years\n* Current participation in an interventional clinical study\n* Previous or planned surgical treatment for obesity\n* Individuals with current substance abuse equivalnt to moderate or severe based on DSM 5 criteria (Hasin DS, 2013)\n* Any suicidal ideation in the past year\n* Unable to perform any of the procedures for the study\n* Have a body weight, height, and\u002For width that that prohibits the ability to obtain accurate measurements according to the DXA manufacturer's specification\n* Any condition that would prevent successful participation in the study.","26 Years",{"count":372,"type":22},36,[374],"PHASE4","This research study is comparing the effectiveness of a weight loss medication called Tirzepatide in young adults with Prader-Willi Syndrome and\u002For hypothalamic obesity, as compared to young adults with obesity that is unrelated to a genetic syndrome or underlying medical cause. These groups will be given medication for 1 year to see how weight and other health factors are effected by the medication.",[28,306,377],"Obesity\u002FTherapy",[379,380,381,28,306,382],"Tirzepatide","GLP1 Agonist","Obesity","General Obesity","2025-09-12",{"date":385,"type":39},"2025-09-16",{"date":387,"type":39},"2025-05-01",{"date":108,"type":22},{"name":390,"class":46},"Grace Kim",3,{"id":393,"slug":394,"hasResults":11,"nctId":395,"briefTitle":396,"officialTitle":397,"acronym":398,"eligibilityCriteria":399,"healthyVolunteers":11,"sex":17,"minAge":400,"maxAge":401,"enrollmentInfo":402,"targetDuration":4,"studyType":23,"phases":404,"briefSummary":405,"conditions":406,"keywords":407,"overallStatus":354,"whyStopped":4,"lastUpdateSubmitDate":410,"lastUpdatePostDateStruct":411,"startDateStruct":413,"completionDateStruct":415,"leadSponsor":417,"locationsCount":47},"100593420","brain-olfactory-pathways-in-prader-willi-syndrome-100593420","NCT07006207","Brain Olfactory Pathways in Prader-Willi Syndrome","Deciphering Brain Olfactory Pathways in Prader-Willi Syndrome","PRADOL","Inclusion Criteria:\n\n* child with a genetically confirmed diagnosis of PWS and for whom the genetic subtype (deletion or non deletion) has been identified\n* Child aged between 5 and 7 years\n* Child with a planned hospitalization at the Toulouse reference center for PWS\n\nExclusion Criteria:\n\n* Presence of a contraindication to MRI\n* Allergy to any of the fragrances used in the olfactory test\n* Presence of an ENT infection such as rhinitis or sinusitis on the day of inclusion\n* Reported anosmia\n* Administrative problems.","5 Years","7 Years",{"count":403,"type":22},30,[25],"Studying the cerebral activity of children with Prader-Willi Syndrom (PWS) when the study propose to them nasal activations.",[28],[408,409],"cerebral activity","Olfactory activation","2025-05-27",{"date":412,"type":39},"2025-06-05",{"date":414,"type":22},"2025-06-23",{"date":416,"type":22},"2025-12",{"name":418,"class":46},"University Hospital, Toulouse",{"id":420,"slug":421,"hasResults":11,"nctId":422,"briefTitle":423,"officialTitle":423,"acronym":424,"eligibilityCriteria":425,"healthyVolunteers":11,"sex":17,"minAge":118,"maxAge":426,"enrollmentInfo":427,"targetDuration":4,"studyType":218,"phases":4,"briefSummary":429,"conditions":430,"keywords":431,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":434,"lastUpdatePostDateStruct":435,"startDateStruct":437,"completionDateStruct":439,"leadSponsor":441,"locationsCount":47},"100583545","autistic-symptomatology-and-sensory-profile-in-children-with-prader-willi-syndrome-100583545","NCT06877715","Autistic Symptomatology and Sensory Profile in Children With Prader-Willi Syndrome","CASSPER","Inclusion Criteria:\n\n* Child with genetically confirmed PWS and identification of genetic subtype;\n* Child aged between 3 and 16 years;\n* Hospitalisation or multidisciplinary consultation planned for the child's routine follow-up at one of the investigating centres;\n* No parental\u002Flegal guardian objection.\n\nExclusion Criteria:\n\n* Change in psychotropic treatment (start, change in dose or discontinuation) in the past 3 months;\n* Inability to provide clear information to parents\u002Flegal guardian;\n* Not covered by social security.","16 Years",{"count":428,"type":22},75,"Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder stemming from genetic damage in the 15q11-q13 region, leading to hypothalamic dysfunction. Individuals with PWS often exhibit social interaction challenges, intellectual deficits, significant eating disorders, mood disturbances, and sensory-related autistic features. Although PWS is recognized by DSM-5 as a genetic cause of Autism Spectrum Disorder (ASD), ASD diagnosis in PWS remains rare in France. The CASSPER study aims to investigate the distinct autistic and sensory profiles in children with PWS, also analyzing the potential impact of early oxytocin treatment on these manifestations, in line with recommendations for early and tailored intervention.",[28],[126,182,432,433],"Autistic Symptomatology","Sensory profile","2025-05-05",{"date":436,"type":39},"2025-05-08",{"date":438,"type":39},"2025-04-07",{"date":440,"type":22},"2026-10-30",{"name":418,"class":46},{"id":443,"slug":444,"hasResults":11,"nctId":445,"briefTitle":446,"officialTitle":447,"acronym":448,"eligibilityCriteria":449,"healthyVolunteers":11,"sex":17,"minAge":174,"maxAge":4,"enrollmentInfo":450,"targetDuration":4,"studyType":23,"phases":452,"briefSummary":453,"conditions":454,"keywords":455,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":470,"lastUpdatePostDateStruct":471,"startDateStruct":473,"completionDateStruct":475,"leadSponsor":477,"locationsCount":479},"100571462","effects-of-transcutaneous-vagus-nerve-stimulation-on-emotion-regulation-and-executive-functioning-in-prader-willi-syndrome-100571462","NCT06720571","Effects of Transcutaneous Vagus Nerve Stimulation on Emotion Regulation and Executive Functioning in Prader-Willi Syndrome","Auricular Vagal Neuromodulation Therapy (aVNT) for Enhancing Emotion Regulation, Executive Functions, Hyperphagia, and Quality of Life in Prader-Willi Syndrome: A Multicenter Randomized Controlled Trial","STIM-PRADER","Inclusion Criteria:\n\n* Participant with PWS: Age : ≥ 18 years old; Diagnosis of Prader-Willi syndrome with identified genotype; Intellectual Quotient ≥ 55 measured by WAIS-IV (abbreviated version); Pathological or threshold score on at least one of the BRIEF-A subscales; Adults volunteering and able to comply with study procedures; Signature of informed consent form; Beneficiary of a social security regime\n* Caregivers: Caregivers involved in the participant's family, medical or institutional environment; Caregiver who has signed the informed consent form.\n\nExclusion Criteria:\n\n* Participant with PWS: Untreated and unstabilized psychiatric and\u002For behavioral disorders (psychological decompensation within the last year); Severe visual or hearing impairment; Untreated sleep apnea syndrome; Epileptic seizures; Previous significative ECG abnormality; Adults with pacemakers or defibrillators; Metal or electronic devices implanted in the head; Participation in other research involving an exclusion period still in progress at inclusion; Score ≥ 30 indicating severe depression (BDI-II self-report questionnaire); Pregnant or breast-feeding women.",{"count":451,"type":22},24,[25],"The STIM-PRADER study aims to assess the effectiveness of auricular vagal neuromodulation therapy (aVNT) on emotional, behavioral, and cognitive domains impaired in Prader-Willi Syndrome (PWS). Currently, no treatment exists that addresses the multiple alterations associated with this rare neurodevelopmental disorder that significantly impact patients and their families. We will investigate the effects of daily, four-hour aVNT stimulation over a nine-month period on (a) emotion regulation, including assessing the persistence of effects following stimulation; (b) executive functions, including inhibition, flexibility, planning, and updating information in memory; (c) hyperphagia; (d) depression; (e) quality of life; (e) and the threshold at which effects on these dimensions can be observed.\n\nWe will conduct a longitudinal multicenter parallel randomized controlled single-blind exploratory trial. Twenty-four adults with PWS and 24 caregivers will be randomly assigned to receive either active or sham stimulation under identical conditions (four hours per day, seven days per week over nine months). The primary outcome, focusing on emotional control, will be assessed every two weeks for both participants and caregivers. Secondary outcomes (executive functions, hyperphagia, depression, and quality of life) will be measured at four time points: pre-intervention, at three months, six months, and at nine months.\n\nAs this is the first multicenter randomized controlled trial investigating the effects of aVNT as a treatment in PWS patients, we anticipate witnessing improved emotional regulation and reduced eating disorders, along with enhancements in executive functions and quality of life in the active stimulation group. The findings from this project could support the development of broader therapeutic approaches for other conditions in which behavioral disorders and emotional processing deficits affect patients and their caregivers.",[28],[28,456,457,458,459,460,461,462,463,464,465,94,91,466,467,468,469],"Vagus nerve stimulation","aVNT","t-VNS","Cognition","Executive functions","Inhibition","Flexibility","Planning","Updating","Emotion regulation","Quality of life","Depression","Multicenter randomized controlled trial","Caregivers","2024-12-02",{"date":472,"type":39},"2024-12-06",{"date":474,"type":39},"2023-11-22",{"date":476,"type":22},"2026-03-30",{"name":478,"class":46},"University of Bordeaux",4,{"id":481,"slug":482,"hasResults":11,"nctId":483,"briefTitle":484,"officialTitle":485,"acronym":4,"eligibilityCriteria":486,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":487,"targetDuration":4,"studyType":218,"phases":4,"briefSummary":489,"conditions":490,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":491,"lastUpdatePostDateStruct":492,"startDateStruct":494,"completionDateStruct":496,"leadSponsor":497,"locationsCount":47},"100272708","register-of-patients-with-prader-willi-syndrome-100272708","NCT02829684","Register of Patients With Prader-Willi Syndrome","Implementation of a National Register of Children and Adults Presenting Prader-Willi Syndrome","Inclusion Criteria:\n\n* all subjects with a Prader-Willi Syndrome\n\nExclusion Criteria:\n\n\\-",{"count":488,"type":22},500,"Prader-Willi Syndrome (PWS) is a rare syndrome with a prevalence of 15 to 20 000 at birth. PWS represents a large fraction of mental retardation syndromes due to a genetic cause and the most frequent cause of genetic obesity. The majority of the patients are seen by paediatricians. This syndrome is responsible for severe physical, psychological and social impairments.\n\nThe diversity and the severity of the manifestations of this disease explain the requirement of multidisciplinary care which deserve specific evaluation. Today the follow-up and management of a great proportion of these patients are greatly insufficient if not absent.\n\nTeams strongly lack information on the natural history of this severe disease and on the factors involved in its evolution and the outcome of these patients throughout life. The present project is to implement a register in the whole country for children and adult patients",[28],"2024-02-16",{"date":493,"type":39},"2024-02-20",{"date":495,"type":39},"2009-03",{"date":108,"type":22},{"name":418,"class":46},{"id":499,"slug":500,"hasResults":11,"nctId":501,"briefTitle":502,"officialTitle":503,"acronym":504,"eligibilityCriteria":505,"healthyVolunteers":11,"sex":17,"minAge":174,"maxAge":4,"enrollmentInfo":506,"targetDuration":4,"studyType":218,"phases":4,"briefSummary":508,"conditions":509,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":541,"lastUpdatePostDateStruct":542,"startDateStruct":544,"completionDateStruct":546,"leadSponsor":548,"locationsCount":47},"100398068","growing-up-with-rare-genetic-syndromes-100398068","NCT04463316","GROWing Up With Rare GENEtic Syndromes","GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age","GROW UR GENES","Inclusion Criteria:\n\n* Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center.\n\nExclusion Criteria:\n\n* None",{"count":507,"type":22},600,"Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.\n\nIncreased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.\n\nMedical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.\n\nThe aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:\n\n1. comorbidities\n2. medical and their impact on quality of life\n3. medication use\n4. the need for adaption of medication dose according to each syndrome\n\nMethods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.",[28,510,511,512,513,264,514,515,516,517,518,519,520,521,522,523,524,525,526,527,528,529,530,531,532,533,534,535,536,537,538,539,540],"PWS-like Syndrome","Silver Russel Syndrome","Congenital Hypopituitarism","Klinefelter (XXY-)Syndrome","XXXXY Syndrome","XXYY Syndrome","XXXX Syndrome (Tetra-X Syndrome)","Disorders of Sex Development","Turner Syndrome","46, XY DSD","Tuberous Sclerosis","Neurofibromatosis","Albright Hereditaire Osteodystrofie","Cornelia de Lange Syndrome","Saethre-Chotzen Syndrome","17p- Deletiesyndrome","VCF Syndrome","POLR3A Mutatie","Ohdo Syndrome","Jacobsen Syndrome \u002F 11 q Syndrome","Myrhe Syndrome","CHARGE Syndrome","1q25-32 Deletie","Bardet Biedl Syndrome","Rett Syndrome","22q11 Deletion Syndrome","Allan-Herndon-Dudley Syndrome","Kallmann Syndrome","Rare Bone Disorders","Noonan Syndrome","Williams-Beuren Syndrome","2023-09-04",{"date":543,"type":39},"2023-09-06",{"date":545,"type":39},"2018-10-01",{"date":547,"type":22},"2030-01-01",{"name":549,"class":46},"dr. Laura C. G. de Graaff-Herder",{"id":551,"slug":552,"hasResults":11,"nctId":553,"briefTitle":554,"officialTitle":555,"acronym":556,"eligibilityCriteria":557,"healthyVolunteers":11,"sex":17,"minAge":174,"maxAge":4,"enrollmentInfo":558,"targetDuration":4,"studyType":218,"phases":4,"briefSummary":560,"conditions":561,"keywords":562,"overallStatus":354,"whyStopped":4,"lastUpdateSubmitDate":566,"lastUpdatePostDateStruct":567,"startDateStruct":569,"completionDateStruct":571,"leadSponsor":573,"locationsCount":47},"100399655","growth-hormone-study-in-adults-with-prader-willi-syndrome-100399655","NCT04484051","Growth Hormone Study in Adults With Prader-Willi Syndrome","Growth Hormone Study in Adults With Prader-Willi Syndroom","GAP","Inclusion Criteria:\n\n* The patient is diagnosed with Prader-Willi syndrome (genetically confirmed)\n\nExclusion Criteria:\n\n* Non cooperative behaviour\n* Pregnancy\n* Known malignancies\n* Poorly controlled diabetes (HbA1c \\> 64 mmol\u002Fmol (8%))\n* Untreated obstructive sleep apnea (apnea-hypopnea index \\> 5)\n* Body mass index above 40 kg\u002Fm2\n* Upper-airway obstruction of any cause",{"count":559,"type":22},25,"The overall objective of this study is to measure the effect of growth hormone (GH) treatment on physical and psychosocial health in adults with Prader-Willi syndrome. Adults with PWS who have not been treated with GH during the past three years and who will start with GH treatment as part of regular patient care will be asked for informed consent to participate in this open-label prospective cohort study. We hypothesize that growth hormone treatment will improve the physical and psychosocial health.",[28],[126,563,564,565],"Growth hormone","Body composition","Cardiovascular disease","2023-02-15",{"date":568,"type":39},"2023-02-16",{"date":570,"type":22},"2023-03-24",{"date":572,"type":22},"2026-10-01",{"name":574,"class":46},"Erasmus Medical Center"]