[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"angelman-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:angelman-syndrome":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,13,0,[8,43,68,90,116,140,171,200,223,238,263,283,307],{"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":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100605033","phase-2-a-safety-and-efficacy-study-of-gtx-102-in-subjects-with-deletion--or-nondeletion-type-angelman-syndrome-as-100605033",false,"NCT07157254","A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)","A Phase 2, Open-label, Basket Study Investigating the Safety and Efficacy of GTX-102 in Adult and Pediatric Subjects With Deletion- or Nondeletion-type Angelman Syndrome","Aurora","Inclusion Criteria:\n\n1. Signed informed consent from parent(s) or legal guardian(s)\n2. Males and females of the following ages and genotypes at time of informed consent:\n\n   1. Subprotocol A: ≥ 1 to \\\u003C 4 years of age with a genetically confirmed diagnosis of deletion-type Angelman syndrome\n   2. Subprotocol B: ≥ 4 to \\\u003C 18 years of age with a genetically confirmed diagnosis of UPD\u002FICD Angelman syndrome\n   3. Subprotocol C: ≥ 18 to \\\u003C 65 years of age with a genetically confirmed diagnosis of Angelman syndrome, any genotype\n   4. Subprotocol D: ≥ 4 to \\\u003C 18 years of age with a genetically confirmed diagnosis of mutation-type Angelman syndrome\n3. Weight ≥ 8 kg at Screening Visit\n4. Platelet count, prothrombin time \u002F international normalized ratio, and partial thromboplastin time \\\u003C 1.5x the upper limit of normal and platelets \\> 75,000 cells\u002Fmm3 at the Screening Visit\n5. Willing and able to comply with scheduled visits, drug administration plan, laboratory tests, and all study procedures, including lumbar puncture (LP) procedure, magnetic resonance imaging (MRI) and tolerating anesthesia without intubation\n6. From the time of informed consent through to at least 6 months after the final dose of GTX-102, females of childbearing potential who are sexually active must use highly effective contraception or abstinence. Males are able to participate if they agree to remain abstinent (refrain from heterosexual intercourse) or use acceptable contraceptive methods during the study and for at least 3 months after the final dose of GTX-102\n\nExclusion Criteria:\n\n1. Any change in medications or diet\u002Fsupplements intended to treat symptoms of Angelman Syndrome (eg, sleeping aids, antiseizure medications, supplements, dietary change including ketogenic or low-glycemic index diet, other) within the month prior to the Screening Visit (excluding weight-based adjustments)\n2. Any condition that creates an increased risk of unsuccessful lumbar puncture\n3. Current or expected concomitant use of drugs that increase the risk of bleeding (eg, heparin, low molecular weight heparin, platelet inhibitors)\n4. Known hypersensitivity to GTX-102 or its excipients or required premedication that, in the judgment of the Investigator, places the subject at increased risk for adverse effects\n5. Presence or history of any condition, lab abnormality, or infection that, in the judgment of the Investigator, would interfere with study participation, pose undue safety risk, or would confound interpretation of results\n6. Pregnant or breastfeeding or planning to become pregnant (self or partner) at any time during the study\n7. Use of any investigational product or investigational medical device within 6 months or 5 half-lives prior to the Screening Visit, or any prior use of gene therapy or an ASO regardless of length of time since last use\n8. Concurrent participation in any interventional study","ALL","1 Year","64 Years",{"count":21,"type":22},60,"ESTIMATED","INTERVENTIONAL",[25],"PHASE2","The main goal of the study is to evaluate the safety and efficacy of GTX-102 in participants with Angelman syndrome.",[28],"Angelman Syndrome",[28],"RECRUITING","2026-06-22",{"date":33,"type":34},"2026-06-23","ACTUAL",{"date":36,"type":34},"2025-10-13",{"date":38,"type":22},"2030-01",{"name":40,"class":41},"Ultragenyx Pharmaceutical Inc","INDUSTRY",21,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":48,"acronym":4,"eligibilityCriteria":49,"healthyVolunteers":11,"sex":17,"minAge":50,"maxAge":51,"enrollmentInfo":52,"targetDuration":4,"studyType":23,"phases":54,"briefSummary":56,"conditions":57,"keywords":58,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":60,"startDateStruct":61,"completionDateStruct":63,"leadSponsor":65,"locationsCount":67},"100586379","phase-3-reveal-a-phase-3-study-of-ion582-in-angelman-syndrome-100586379","NCT06914609","REVEAL: A Phase 3 Study of ION582 in Angelman Syndrome","Phase 3 Study of the Efficacy and Safety of ION582 in Children and Adults With Angelman Syndrome","Key Inclusion Criteria:\n\n1. The participants caregiver(s)\u002F legally authorized representative must have given written informed consent and any authorizations required by local law and be able to comply with all study requirements.\n2. Medically stable and can undergo sedation and\u002For general anesthesia without intubation.\n3. Male or female between 2 and lesser than or equal to (≤)50 years of age, depending on specific cohort, at the time of the in-clinic Screening visit.\n4. Participant has a clinical diagnosis of Angelman syndrome (AS) with molecular confirmation of either Ubiquitin-protein ligase E3A (UBE3A) deletion or UBE3A mutation.\n5. Currently receiving stable doses of concomitant medications typically prescribed for AS, such as anti-epileptic medication, behavioral management medications, sleep medications, gabapentin, cannabidiol, and special diets, supplements, or nutritional support for at least 8 weeks prior to the Baseline visit.\n6. Legally authorized representative\u002Fcaregiver(s) agree(s) not to post any of the participant's personal medical data or information related to the study on any website or social media site (e.g., Facebook, Instagram, X (formerly Twitter), YouTube, TikTok, etc.) from the time of enrollment until they are notified that the study is completed.\n\nKey Exclusion Criteria:\n\n1. Must not have any clinically significant abnormalities in medical history (e.g., major surgery within 3 months of screening), or on physical examination for which treatment with an antisense oligonucleotide (ASO) would be contraindicated or which, in the opinion of the Principal Investigator (PI), could confound the results of this study.\n2. Known brain or spinal disease that would interfere with the lumbar puncture (LP) procedure, cerebrospinal fluid (CSF) circulation, or presence of other factors would affect the safety of the LP procedure.\n3. Must not have any other conditions, which, in the opinion of the Investigator, would make the participant unsuitable for inclusion or could interfere with the participant participating in or completing the study.\n4. Must not have any laboratory abnormalities or any other clinically significant abnormalities that would, as assessed by the Investigator, at screening or Baseline, render a participant unsuitable for inclusion.\n5. Previous treatment with an oligonucleotide (including small interfering ribonucleic acid (RNA) \\[siRNA\\], ASOs) gene therapy or gene editing. This exclusion criterion does not apply to approved nucleic acid-based vaccines, including mRNA vaccines, which are allowed.\n6. Has molecular confirmation of AS due to paternal uniparental disomy, imprinting center defect, or mosaic findings.\n\nOther inclusion\u002Fexclusion criteria may apply.","2 Years","50 Years",{"count":53,"type":22},158,[55],"PHASE3","The purpose of this study is to evaluate the efficacy and safety of ION582 in children and adults with Angelman syndrome caused by a deletion or mutation of the UBE3A gene.",[28],[59,28],"ION582",{"date":33,"type":34},{"date":62,"type":34},"2025-06-10",{"date":64,"type":22},"2030-04",{"name":66,"class":41},"Ionis Pharmaceuticals, Inc.",40,{"id":69,"slug":70,"hasResults":11,"nctId":71,"briefTitle":72,"officialTitle":73,"acronym":4,"eligibilityCriteria":74,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":51,"enrollmentInfo":75,"targetDuration":4,"studyType":23,"phases":77,"briefSummary":78,"conditions":79,"keywords":4,"overallStatus":80,"whyStopped":4,"lastUpdateSubmitDate":81,"lastUpdatePostDateStruct":82,"startDateStruct":84,"completionDateStruct":86,"leadSponsor":88,"locationsCount":4},"100638653","phase-3-beacon---phase-iii-clinical-study-of-rugonersen-in-angelman-syndrome-100638653","NCT07605429","BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome.","A Randomized, Multi-center, Double-blind, Sham-controlled, Phase III Clinical Study to Evaluate the Efficacy and Safety of Intrathecally Administered Rugonersen in Pediatric and Adult Participants With Angelman Syndrome","Inclusion Criteria:\n\n* Male or female and ≥ 1 year to ≤ 50 years of age at signing of the informed consent form.\n* Independent of the age of the participant, the participant has a parent, caregiver or legal representative (herein after referred to as caregiver) who is reliable and competent in the Investigator's judgement. The caregiver is:\n\n  * Able to consent for the participant according to ICH and local regulations,\n  * At least 18 years of age,\n  * Willing and able to accompany the participant to clinic visits and be available to the investigational site by telephone, email, or other electronic form as needed,\n  * Is, and will likely remain, sufficiently knowledgeable of participant's condition throughout the study to be able to respond to queries, and is willing and able to complete caregiver assessments and inform the site personnel about the participant's condition as requested.\n* Clinical diagnosis of Angelman syndrome.\n* Pre-existing medical records confirm the clinical diagnosis of AS and the molecular diagnosis with genotypic classification of either:\n\n  * Mutation in the UBE3A gene, and the pathogenic or likely pathogenic variant identified,\n  * Deletion on the maternally inherited chromosome 15q11-q13 that encompasses the UBE3A gene.\n* Able to comply with all study requirements.\n* Able to tolerate blood draws.\n* Able to undergo LP and IT injection, under sedation or anesthesia without intubation as deemed appropriate.\n* Has stable medical status for at least 4 weeks prior to screening and at the time of enrolment.\n* Bodyweight \\> 7.5 kg\n* Legally authorized representative\u002Fcaregiver(s) agree(s) not to share any of the participant's personal medical data or information related to the study by any means, including, e.g., a website or a post on a social media site (e.g., Facebook, Instagram, Twitter, YouTube, TikTok, etc.) from the time of enrollment until they are notified that the study is completed.\n* Stable permitted medications (including cannabidiol \\[CBD\\]) for epilepsy for 12 weeks prior to screening and at the time of enrolment, with the exception of age\u002Fweight-based or blood level (toxicity) dose adjustments.\n* Stable concurrent psychotropic medications for 4 weeks prior to screening and at time of enrolment.\n* Complies with the requirements regarding contraception and is confirmed by caregiver consent.\n\nExclusion Criteria:\n\n* Molecular diagnosis of AS with genotypic classification of:\n\n  * Uniparental paternal disomy (UPD) of 15q11-q13,\n  * Imprinting center defect (ICD) within 15q11-q13,\n  * A partial molecular diagnosis of AS, that cannot exclude UPD or ICD despite appropriate genetic testing.\n* Clinically significant vital signs or laboratory abnormalities during screening, including:\n\n  o Abnormal coagulation profile demonstrated by platelet count at or below lower limit of normal (140 × 109\u002FL), or by abnormal international normalized ratio (INR) and\u002For prothrombin time (PT), or activated partial thromboplastin time (aPTT).\n* Presence of clinically relevant electrocardiogram (ECG) abnormalities prior to dosing such as QT interval corrected for heart rate using Fredericia's formula (QTcF) \\> 460 ms, personal or family history of congenital long QT syndrome indicating safety risk in the Investigator's opinion. First-degree atrioventricular block or isolated right bundle branch block is allowed.\n* Clinically relevant disease or condition, including hematological, hepatic, cardiac or renal disease or abnormality, that would, in the judgement of the Investigator, pose an unacceptable risk to the participant or interfere with the conduct of the study\n* Any concomitant condition that might interfere with the clinical evaluation of AS and that is not related to AS.\n* Known history of human immunodeficiency virus (HIV), hepatitis B, C, or E virus.\n* Any condition that increases the risk of meningitis.\n* History of bleeding diathesis or coagulopathy.\n* Medical history of brain or spinal disease that would interfere with the LP process, CSF circulation or safety assessment, including:\n\n  * Tumors or abnormalities detected by magnetic resonance imaging (MRI) or computed tomography (CT),\n  * Subarachnoid hemorrhage,\n  * Clinical suggestion of raised intracranial pressure confirmed by MRI or ophthalmic examination,\n  * Spinal stenosis or curvature (considered sufficient to prohibit LP),\n  * Chiari malformation,\n  * Hydrocephalus,\n  * Syringomyelia,\n  * Tethered spinal cord syndrome and connective tissue disorders such as Ehlers-Danos syndrome and Marfan syndrome,\n  * Radiculopathy or radiculitis.\n* Ventriculoperitoneal (VP) shunt for the drainage of CSF or an implanted CNS catheter.\n* Medical history of brain or spinal injury, of traumatic, hemorrhagic, or any other origin, that may result in symptoms interfering with AS.\n* History of clinically significant post LP headache of moderate or severe intensity and\u002For blood patch that would, in the judgement of the Investigator, pose an unacceptable risk to the participant or interfere with the conduct of the study.\n* Malignancy within 5 years of screening.\n* Hospitalization for any major medical or surgical procedure involving general anesthesia planned during the study, or within 4 weeks prior to screening, that - in the opinion of the Investigator - may pose a risk to the participant.\n* Prohibited use of antiplatelet or anticoagulant therapy for 2 weeks prior to screening and at the time of enrolment.\n* Have any other conditions which would make the participant unsuitable for inclusion or could interfere with the participant participating in or completing the study, including any contraindication to administration of IT therapy.\n* Extremely or very preterm birth complications which, in the opinion of the Investigator, may interfere with study outcomes.\n* Birth complications, confirmed or suspected asphyxia before, during, or after birth.\n* Ascertained or presumptive hypersensitivity to the investigational medicinal product (IMP) or its excipients.\n* Participated in a clinical trial and received an IMP within 90 days or 5 half-lives (whichever is longer) or tested an investigational medical device within 90 days prior to dosing or if the device is still active.\n* Concurrent or planned concurrent participation in any clinical study (including observational, non-drug and non-interventional studies) without a signed data sharing agreement in place between the other clinical study and the Sponsor.\n* Previous participation in cellular therapy, gene therapy, gene editing, or any other gene expression modulating clinical trial, such as an ASO treatment.",{"count":76,"type":22},165,[55],"Purpose of the study is to evaluate the efficacy and safety of intrathecally administered rugonersen in pediatric and adult participants with Angelman syndrome.",[28],"NOT_YET_RECRUITING","2026-06-02",{"date":83,"type":34},"2026-06-04",{"date":85,"type":22},"2026-06",{"date":87,"type":22},"2031-03",{"name":89,"class":41},"OHB Pediatrics Ltd.",{"id":91,"slug":92,"hasResults":11,"nctId":93,"briefTitle":94,"officialTitle":95,"acronym":96,"eligibilityCriteria":97,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":98,"targetDuration":4,"studyType":99,"phases":4,"briefSummary":100,"conditions":101,"keywords":102,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":106,"lastUpdatePostDateStruct":107,"startDateStruct":109,"completionDateStruct":110,"leadSponsor":112,"locationsCount":115},"100625015","a-natural-history-study-of-angelman-syndrome-100625015","NCT07417137","A Natural History Study of Angelman Syndrome","A Longitudinal Natural History Study of Adults and Children With Angelman Syndrome","GLOW-AS","Inclusion Criteria:\n\n* The participant has a primary clinical diagnosis of Angelman syndrome with documented genetic variation(s) affecting the function of the UBE3A gene within the human 15q11.2-q13.3 locus. Co-occurring conditions (e.g., autism spectrum disorder, cerebral palsy, intellectual disability) are permitted; however, Angelman syndrome must be the primary clinical diagnosis.\n* The participant is male or female (assigned sex at birth) and aged ≥1 year at the initial study visit.\n* The participant has a study partner who meets the study partner criteria below.\n* The participant, if unable to provide informed consent, has an appropriate surrogate who is at least 18 years of age and willing and able to provide informed consent on behalf of the participant in accordance with current International Council for Harmonisation (ICH) guidelines and applicable institutional regulations.\n\nIndividuals must satisfy the following criteria to be enrolled as study partners:\n\n* The study partner is a parent or primary caregiver who is at least 18 years of age.\n* The study partner has consistent contact with the participant and, in the opinion of the investigator, is sufficiently knowledgeable about the participant's ongoing condition to provide accurate and current information.\n* The study partner has sufficient English-language proficiency to complete study partner assessments.\n* The study partner is willing and able to provide informed consent on their own behalf in accordance with ICH guidelines and applicable institutional regulations.\n* The study partner is, in the opinion of the investigator, reliable and competent; willing and able to accompany the participant to all study visits and comply with study procedures; reachable by telephone or email as needed; and sufficiently knowledgeable about the participant's ongoing condition(s) to provide accurate and current information regarding the participant's health and well-being.\n\nExclusion Criteria:\n\n* The participant has at least one additional known genetic abnormality outside the human 15q11.2-q13.3 locus causing a probable or known developmental disability.\n* At least one standard-of-care treatment (medication or adjunctive therapy) used by the participant was changed during the 28 days (4 weeks) prior to the first study visit. Treatments include, but are not limited to, doses of anti-epileptic medications, behavioral management medications, sleep medications, gabapentin, cannabidiol, special diets, supplements, speech therapy, occupational therapy, applied behavioral analysis (ABA), psychosocial interventions, physical therapy, or nutritional support.\n* The participant has unstable epilepsy, defined as having an emergency department visit or hospitalization for seizure-related concerns within the 28 days (4 weeks) preceding the initial study visit.\n* The participant is of childbearing potential and is either pregnant, breastfeeding, or not using an adequate method of contraception; abstinence is acceptable.\n* The participant has a clinically relevant history of malignancy; clinically significant abnormal test results; clinically significant cardiovascular, hematologic, hepatic, muscular, neurologic, or renal disease; or has experienced other clinical events which, in the opinion of the investigator, render participation unsuitable.\n* The participant has a lifetime history of treatment with any cell- or gene-based therapy, including antisense oligonucleotides or gene-editing therapies.\n* The participant has received any investigational therapy other than a cell- or gene-based therapy within 28 days or 5 half-lives (whichever is longer) preceding the initial study visit.\n* The participant is currently enrolled or plans to enroll in an interventional study involving an investigational agent or device during the planned observation period.\n* The participant has a known contraindication to electroencephalography, actigraphy, or any other study procedure described in the schedule of assessments.\n* The participant or study partner is, in the opinion of the investigator, unsuitable for participation in any other way, including an inability to fulfill study requirements.",{"count":67,"type":22},"OBSERVATIONAL","The goal of this observational study is to learn about the natural progression of Angelman syndrome (AS) in children and adults with a confirmed genetic diagnosis of AS. The main questions it aims to answer are:\n\n* How do developmental skills, such as communication, motor abilities, and adaptive behaviors, change over a 1-year period in people with AS?\n* Are there specific patterns in brain activity or sleep that are associated with changes in AS symptoms over time?\n\nParticipants will:\n\n* Visit the study site 5 times over 1 year (approximately every 3 months) for assessments.\n* Complete tests and questionnaires about development, behaviors, and sleep with the help of their caregivers.\n* Undergo electroencephalograms (EEGs) to measure brain activity and wear a sleep-monitoring device at home (to collect actigraphy data).",[28],[103,104,96,105],"Angelman syndrome","Angelman","AS","2026-05-15",{"date":108,"type":34},"2026-05-18",{"date":85,"type":22},{"date":111,"type":22},"2029-09",{"name":113,"class":114},"Massachusetts General Hospital","OTHER",1,{"id":117,"slug":118,"hasResults":11,"nctId":119,"briefTitle":120,"officialTitle":120,"acronym":121,"eligibilityCriteria":122,"healthyVolunteers":11,"sex":17,"minAge":123,"maxAge":124,"enrollmentInfo":125,"targetDuration":4,"studyType":99,"phases":4,"briefSummary":126,"conditions":127,"keywords":128,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":131,"lastUpdatePostDateStruct":132,"startDateStruct":134,"completionDateStruct":136,"leadSponsor":138,"locationsCount":115},"100572780","use-of-eye-tracking-to-study-social-perception-abnormalities-in-children-with-angelman-syndrome-100572780","NCT06737718","Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome","EYEANGEL","Inclusion Criteria:\n\n* 40 children with Angelman syndrome diagnosed by genetic assessment or EEG.\n* 20 healthy volunteer control children with no known genetic or psychiatric neurological pathology.\n* Aged between 3 - 17 years.\n* Male or female.\n* Holders of parental authority and minors informed and not opposed to participation in the research.\n\nExclusion Criteria:\n\n* Refusal to participate in the study.","3 Years","17 Years",{"count":21,"type":22},"Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1 in 15,000 children - approximately 500,000 people worldwide. It is a major neurodevelopmental disorder characterized by severe developmental delay with significant intellectual disability, lack of oral language, motor, balance, and sensory impairments.\n\nWhile basic research and clinical trials are progressing, the scientific community is still searching for key biomarkers to assess significant improvements in individuals participating in clinical trials.\n\nEye tracking has been widely used in the diagnosis of social perception abnormalities in children with autism spectrum disorder, as has already been the case for other rare neurodevelopmental diseases. However, few studies have highlighted the usefulness of eye tracking as a diagnostic tool for social behavioral disorders in individuals with Angelman syndrome. Given the prevalence of autistic-like symptoms in patients with AS, if eye-tracking can identify abnormalities in social perception in children with Angelman syndrome, these measurements could become a biomarker for therapeutic studies in these patients.",[28],[103,129,130],"Eye tracking","Social perception","2026-03-13",{"date":133,"type":34},"2026-03-16",{"date":135,"type":34},"2025-02-25",{"date":137,"type":22},"2027-02",{"name":139,"class":114},"Assistance Publique - Hôpitaux de Paris",{"id":141,"slug":142,"hasResults":11,"nctId":143,"briefTitle":144,"officialTitle":145,"acronym":146,"eligibilityCriteria":147,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":148,"targetDuration":4,"studyType":99,"phases":4,"briefSummary":150,"conditions":151,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":160,"lastUpdatePostDateStruct":161,"startDateStruct":163,"completionDateStruct":165,"leadSponsor":167,"locationsCount":170},"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":149,"type":22},2000,"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?",[152,153,154,28,155,156,157,158,159],"Silver Russell Syndrome","Beckwith-Wiedemann Syndrome","Transient Neonatal Diabetes Mellitus","Prader-Willi Syndrome","Temple Syndrome","Kagami-Ogata Syndrome","Pseudohypoparathyroidism","Familial Precocious Puberty","2026-02-10",{"date":162,"type":34},"2026-02-12",{"date":164,"type":34},"2017-03-10",{"date":166,"type":22},"2028-03",{"name":168,"class":169},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",20,{"id":172,"slug":4,"hasResults":11,"nctId":173,"briefTitle":174,"officialTitle":175,"acronym":4,"eligibilityCriteria":176,"healthyVolunteers":11,"sex":17,"minAge":50,"maxAge":177,"enrollmentInfo":178,"targetDuration":4,"studyType":23,"phases":180,"briefSummary":182,"conditions":183,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":191,"lastUpdatePostDateStruct":192,"startDateStruct":194,"completionDateStruct":196,"leadSponsor":198,"locationsCount":115},"100526778","NCT06139172","Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)","Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities","Inclusion Criteria:\n\n* Age(s) 2-12 years old at time of enrollment\n* Existing genetic syndrome based on clinical or genetic diagnosis and confirmed by medical records\n* Documented diagnosis of global developmental delay (GDD) or intellectual disability (ID)\n* estimated ID in all ranges\n* Disruptive behavior challenges determined to be clinically appropriate for remote, parent-implemented coaching based on clinician determination of acuity of problem behaviors\n* Caregiver who is able to consent in English.\n* Parent\u002Fcaregiver available for weekly intervention sessions\n* Stable psychosocial and psychiatric treatments 3 months prior to baseline visit.\n\nExclusion Criteria:\n\n* High levels of aggression that mitigate remote or outpatient treatment as defined by clinician judgement and\u002For ABC Irritability scores above 20 (i.e., higher level of care needed than provided by study procedures)\n* Medical or psychiatric instability that may limit study participation\n* Meaningful change in medication or psychosocial interventions 3 months prior to baseline visit\n* Limitations in technology access that may hinder participation in remote trial (e.g., declining support provided by study participation)","12 Years",{"count":179,"type":22},92,[181],"NA","The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals with syndromic intellectual and developmental disorders.\n\nParticipants will be asked to complete virtual study assessments at intake and then on a monthly basis for the duration of 3-6 months. In addition, participants will attend weekly or biweekly virtual intervention visits with a study therapist.",[184,185,186,187,28,188,189,190],"Telomeric 22Q13 Monosomy Syndrome","Tuberous Sclerosis","Hamartoma Syndrome, Multiple","Fragile X Syndrome","Rett Syndrome","Chromosome 15Q, Partial Deletion","Creatine Deficiency, X-linked","2026-01-21",{"date":193,"type":34},"2026-01-23",{"date":195,"type":34},"2023-09-15",{"date":197,"type":22},"2026-12",{"name":199,"class":114},"Rush University Medical Center",{"id":201,"slug":202,"hasResults":11,"nctId":203,"briefTitle":204,"officialTitle":205,"acronym":4,"eligibilityCriteria":206,"healthyVolunteers":11,"sex":17,"minAge":207,"maxAge":51,"enrollmentInfo":208,"targetDuration":4,"studyType":23,"phases":210,"briefSummary":212,"conditions":213,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":214,"lastUpdatePostDateStruct":215,"startDateStruct":217,"completionDateStruct":219,"leadSponsor":221,"locationsCount":222},"100449034","phase-1-halos-a-safety-tolerability-pharmacokinetics-and-pharmacodynamics-study-of-multiple-ascending-doses-of-ion582-in-participants-with-angelman-syndrome-100449034","NCT05127226","HALOS: A Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of Multiple Ascending Doses of ION582 in Participants With Angelman Syndrome","HALOS: A Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION582 in Patients With Angelman Syndrome","Key Inclusion Criteria:\n\n1. Participant has a documented and certified diagnosis of Angelman syndrome (AS) (ubiquitin-protein ligase E3A \\[UBE3A\\] deletion or UBE3A mutation)\n2. Male or female between the ages of 0-50 years of age, with signed informed consent from parent(s) or legal guardian(s)\n3. Currently receiving stable standard of care treatments such as, stable doses of anti-epileptic medication, behavioral management medications, sleep medications, gabapentin, cannabidiol, and including special diets, supplements or nutritional support for at least 3 months prior to first dose.\n4. Follow good study practice and not participate in the sharing of personal or study information on social media platforms, such as any website or social media site (e.g., Facebook, Instagram, Twitter, YouTube, etc.) until notified that the study is completed.\n\nKey Exclusion Criteria:\n\n1. Has documented molecular AS confirmation of paternal uniparental disomy (UPD) or imprinting defect (ID).\n2. Any clinically significant (CS) cardiovascular, endocrine, hepatic, renal, pulmonary, gastrointestinal, neurologic, malignant, metabolic, psychiatric, or other condition that, in the judgment of the Investigator, will pose a safety risk, will make the patient unsuitable for participation in, and\u002For unable to complete the study procedures. Has poorly controlled seizures as determined by the Investigator or has documented Status Epilepticus in the past 6 months that could pose a safety risk while on study.\n3. Known bone, spine, bleeding, or other disorder that exposes the patient to risk of injury or unsuccessful lumbar puncture. Previous treatment with an oligonucleotide (including small interfering ribonucleic acid, antisense oligonucleotide \\[ASOs\\]). COVID-19 vaccinations are allowed.\n4. Any prior use of gene therapy. Have any other conditions, which, in the opinion of the Investigator would make the participant unsuitable for inclusion or could interfere with the participant taking part in or completing the study.","0 Years",{"count":209,"type":22},70,[211,25],"PHASE1","The purpose of this study is to evaluate the safety and tolerability of ascending doses of ION582 administered intrathecally in participants with Angelman syndrome.",[28],"2025-11-12",{"date":216,"type":34},"2025-11-14",{"date":218,"type":34},"2021-12-22",{"date":220,"type":22},"2029-03",{"name":66,"class":41},11,{"id":224,"slug":225,"hasResults":11,"nctId":226,"briefTitle":227,"officialTitle":227,"acronym":4,"eligibilityCriteria":228,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":229,"phases":4,"briefSummary":230,"conditions":231,"keywords":4,"overallStatus":232,"whyStopped":4,"lastUpdateSubmitDate":233,"lastUpdatePostDateStruct":234,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":236,"locationsCount":4},"100603433","expanded-accesscompassionate-use-of-rugonersen-in-patients-with-angelman-syndrome-100603433","NCT07136454","Expanded Access\u002FCompassionate Use of Rugonersen in Patients With Angelman Syndrome","For a patient to be considered for this EAP, they must have consented to participate in the TANGELO Optional Open-label Extension (OOE) and, haven't deviated from any of the inclusion\u002F exclusion criteria and have not received any other investigational drug for the treatment of AS between the last dose of the TANGELO OOE and the first dose in the EAP.\n\nThe Physician making the request for expanded access considers continued treatment via the EAP with rugonersen to be a suitable treatment option for the patient under consideration.\n\nInclusion Criteria:\n\n* Signed informed consent must be obtained prior to the initiation of any study-required procedures. The participant has a parent, caregiver, or legal representative (referred to as \"caregiver\") who is reliable and able to consent for the participant according to ICH and local regulations\n\n  * At least 18 years of age\n  * Willing and able to accompany the participant to clinic visits and be available to the site by phone, email, or other electronic form as needed\n  * Is and will likely remain sufficiently knowledgeable of the participant's condition in order to respond to queries as requested.\n* Patient had previously signed informed consent for the TANGELO Optional OOE and completed a final safety follow-up visit for the TANGELO Study.\n* Participant is able to comply with all requirements including blood draws.\n* Participant is able to undergo lumbar puncture (LP) and intrathecal (IT) injection under sedation or anesthesia as deemed appropriate.\n* Will comply with requirements regarding contraception and is confirmed by caregiver consent.\n* In the opinion and clinical judgement of the Physician, potential benefit outweighs potential risk of continuing rugonersen as an investigational therapy, based on the individual patient's medical history and program eligibility criteria, and judged by the treating physician to still being medically suitable for treatment with rugonersen.\n\nExclusion Criteria:\n\n* History of clinically significant post lumbar puncture headache of moderate or severe intensity and\u002For blood patch.\n* Hospitalization for any major medical or surgical procedure involving general anesthesia within 12 weeks of screening or planned during treatment.\n* Ascertained or presumptive hypersensitivity to the rugonersen or its excipients.\n* Permitted sleep medications have not been stable for 4 weeks prior to screening and at time of enrolment.\n* Permitted medications for epilepsy have not been stable for 12 weeks prior to screening and at the time of enrolment.\n* Prohibited use of antiplatelet or anticoagulant therapy for 2 weeks prior to screening and at the time of enrolment.\n* Concurrent psychotropic medications have not been stable for 4 weeks prior to screening and at time of enrolment.\n* Concurrent or planned concurrent participation in any clinical trial (including observational, non-drug or non-interventional).\n* Previous participation in cellular therapy, gene therapy or gene editing, or any other gene expression modulating clinical trial, such as an antisense oligonucleotide (ASO) treatment other than rugonersen.\n* Participation in any other research study with drug or non-drug treatments during this EAP.\n* Participants who discontinued participation in the TANGELO Study (BP41674) due to safety reasons are not eligible.","EXPANDED_ACCESS","For a patient to be considered for this EAP, they must have consented to participate in the TANGELO Optional Open-label Extension (OOE), and continue to meet the inclusion\u002F exclusion criteria and have not received any other investigational drug for the treatment of AS between the last dose of the TANGELO OOE and the first dose in the EAP.\n\nThe Physician making the request for expanded access considers continued treatment via the EAP with rugonersen to be a suitable treatment option for the patient under consideration.",[28],"AVAILABLE","2025-08-14",{"date":235,"type":34},"2025-08-22",{"name":237,"class":41},"Oak Hill Bio Ltd",{"id":239,"slug":240,"hasResults":11,"nctId":241,"briefTitle":242,"officialTitle":243,"acronym":244,"eligibilityCriteria":245,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":246,"targetDuration":4,"studyType":99,"phases":4,"briefSummary":248,"conditions":249,"keywords":250,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":254,"lastUpdatePostDateStruct":255,"startDateStruct":257,"completionDateStruct":259,"leadSponsor":261,"locationsCount":115},"100533742","natural-history-study-for-patients-with-angelman-syndrome-100533742","NCT06229769","Natural History Study for Patients With Angelman Syndrome","A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in CHR Citadelle Liège : NatHis-Angelman","NatHisAngelman","Inclusion Criteria:\n\n* Genetically confirmed diagnosis of AS\n* 0-99 years\n* Male or Female\n* Participant's carer is willing to give IC\u002Fsign a \"record of consultation\" for participation in the study\n\nExclusion Criteria:\n\n* comorbidity that could potentially affect the results of the study coexists. This",{"count":247,"type":22},30,"This study is a 9-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world). It includes a 3-year recruitment phase, a 5 year follow-up and a year to analyze the collected data. The investigators plan to include 30 patients with a semi-annual follow-up for 4 years.\n\nThe investigators will collect relevant retrospective and prospective data using age-standardized scales and questionnaires for functional motor assessments and global developmental assessment.",[28],[251,252,253],"Actimyo°","Accelerometry","Daily living","2025-05-15",{"date":256,"type":34},"2025-05-20",{"date":258,"type":34},"2021-10-10",{"date":260,"type":22},"2028-01",{"name":262,"class":114},"Centre Hospitalier Universitaire de Liege",{"id":264,"slug":265,"hasResults":11,"nctId":266,"briefTitle":267,"officialTitle":267,"acronym":4,"eligibilityCriteria":268,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":269,"targetDuration":4,"studyType":99,"phases":4,"briefSummary":271,"conditions":272,"keywords":273,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":274,"lastUpdatePostDateStruct":275,"startDateStruct":277,"completionDateStruct":279,"leadSponsor":281,"locationsCount":222},"100401496","angelman-syndrome-natural-history-study-100401496","NCT04507997","Angelman Syndrome Natural History Study","Inclusion Criteria:\n\n* Molecular diagnosis of Angelman syndrome\n\nExclusion Criteria:\n\n* Presence of another condition, unrelated to Angelman syndrome, that affects neurodevelopment",{"count":270,"type":22},300,"The goal of this study is to conduct a prospective, longitudinal natural history study of children and adults with Angelman Syndrome using investigator-observed and parent-reported outcome measures to obtain data that will be useful for future clinical trials.",[28],[103],"2025-03-30",{"date":276,"type":34},"2025-04-03",{"date":278,"type":34},"2018-08-01",{"date":280,"type":22},"2031-04",{"name":282,"class":114},"Boston Children's Hospital",{"id":284,"slug":285,"hasResults":11,"nctId":286,"briefTitle":287,"officialTitle":288,"acronym":4,"eligibilityCriteria":289,"healthyVolunteers":11,"sex":17,"minAge":290,"maxAge":291,"enrollmentInfo":292,"targetDuration":4,"studyType":99,"phases":4,"briefSummary":294,"conditions":295,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":298,"lastUpdatePostDateStruct":299,"startDateStruct":301,"completionDateStruct":303,"leadSponsor":305,"locationsCount":115},"100543265","structural-functional-connectome-in-drug-resistant-epilepsies-and-neurodevelopmental-syndromes-with-epilepsy-100543265","NCT06353620","Structural-functional Connectome in Drug-resistant Epilepsies and Neurodevelopmental Syndromes With Epilepsy","Structural-functional Connectome With High-density Electroencephalography in Drug-resistant Epilepsies and Rare Neurodevelopmental Syndromes With Epilepsy","Inclusion Criteria:\n\n* a diagnosis of focal or generalized epilepsy, Angelman syndrome, or Dup15q, confirmed by specialist evaluation;\n* at least one MRI scan of the brain that includes 3D T1 sequences;\n* at least one 128-channel HD-EEG recording; and\n* age between 6 and 75 years at the time of the evaluation of the present study;\n* ability to take part in a neuropsychological evaluation.\n\nExclusion Criteria:\n\n* vascular causes or non-low-grade tumors as causes of epilepsy;\n* age different from the range 6-75 years;\n* neuroradiological examination not complete (absence T1 3D);\n* absence of HD-EEG 128-channel recording\n* inability to take part in a neuropsychological evaluation.","6 Years","75 Years",{"count":293,"type":22},120,"Recent studies have shown that the aperiodic part of the signal (neuronal avalanches) of electroencephalography (EEG) contains important information about the dynamics of neuronal networks. Indeed, this has helped to identify functionally altered areas in patients with temporal epilepsy by simply using the resting EEG signal. Furthermore, it has been seen that the propagation of neuronal avalanches (VNs) correlates with the morphological organization of the cerebral cortex. Therefore, NAs represent a measure with direct utility for studying functional reorganization pre and post drug\u002Fsurgical treatment. In addition, the aperiodic portion of the signal may represent a noninvasive measure of the excitation\u002Finhibition relationship, which is known of being altered both in epilepsy and in some rare neurodevelopmental syndromes (example: Angelman and Dup15q)",[296,28,297],"Epilepsy","Dup15q Syndrome","2024-04-02",{"date":300,"type":34},"2024-04-09",{"date":302,"type":34},"2024-02-13",{"date":304,"type":22},"2027-02-28",{"name":306,"class":114},"IRCCS Eugenio Medea",{"id":308,"slug":309,"hasResults":11,"nctId":310,"briefTitle":311,"officialTitle":311,"acronym":312,"eligibilityCriteria":313,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":314,"targetDuration":316,"studyType":99,"phases":4,"briefSummary":317,"conditions":318,"keywords":319,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":322,"lastUpdatePostDateStruct":323,"startDateStruct":325,"completionDateStruct":327,"leadSponsor":329,"locationsCount":115},"100461786","the-global-angelman-syndrome-registry-100461786","NCT05293184","The Global Angelman Syndrome Registry","GASR","Inclusion Criteria:\n\n* Diagnosis of Angelman Syndrome\n\nExclusion Criteria:\n\n\\-",{"count":315,"type":22},5000,"70 Years","The Global Angelman Syndrome Registry is an online patient organisation driven registry to collect information about the natural history of children and adults with Angelman Syndrome. The registry will facilitate 1) recruitment for clinical trials into therapies and interventions to benefit participants with Angelman Syndrome and their families, and 2) advancement of research and best standards of care for Angelman Syndrome.\n\nThe registry is currently available in English, Spanish, Traditional Chinese, Italian, Polish, Hindi, and Brazilian Portuguese.",[28],[28,320,321],"Registries","Observational study only","2024-02-21",{"date":324,"type":34},"2024-02-23",{"date":326,"type":34},"2016-09-28",{"date":328,"type":22},"2099-12-31",{"name":330,"class":114},"Foundation for Angelman Syndrome Therapeutics, Australia"]