[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT07181837":3,"trial-entities:NCT07181837":140,"trial-summary:NCT07181837":144},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":20,"study_type":25,"primary_purpose":26,"phases":27,"enrollment_info":30,"interventions":33,"primary_outcomes":42,"secondary_outcomes":46,"sex":80,"minimum_age":81,"maximum_age":82,"healthy_volunteers":83,"eligibility_criteria":84,"std_ages":88,"locations":91,"central_contacts":133,"overall_officials":137,"references":138,"see_also_links":139},"NCT07181837","MVX-AAV-101","A Phase 1\u002F2 Study of the Safety and Efficacy of MVX-220 in Angelman Syndrome","A Multi-Center, Open-label, Phase 1\u002F2 Trial of the Safety and Efficacy of MVX-220 Gene Therapy Administered by Intra-Cisterna Magna Injection to Participants With Angelman Syndrome","RECRUITING","2031-05-31","2026-07","2026-07-24","2025-10-29","MavriX Bio, LLC","INDUSTRY",true,"The purpose of this study is to evaluate the safety and efficacy of MVX-220 gene therapy in children and adults with Angelman syndrome with UBE3A gene deletion, uniparental disomy, or imprinting center defect genotypes.","MVX-220 is an investigational gene replacement therapy intended to provide a functional copy of the UBE3A gene to individuals with Angelman syndrome. This study is designed to evaluate the safety, tolerability and efficacy of MVX-220 in participants with Angelman syndrome who have deletion, uniparental disomy, or imprinting center disorder genotypes. The study has 2 primary cohorts: Cohort 1 that includes adults followed by Cohort 2 that includes children. All patients will receive a single dose of MVX-220 administered by injection into the cisterna magna. There is no control group and all individuals will receive the gene therapy. An independent data safety monitoring board will review the safety information from Cohort 1 before individuals can be enrolled in Cohort 2. An optional cohort of adults and\u002For children (Cohort 3) may be enrolled based on a review of data from Cohorts 1 and 2. All patients will be required to take steroids before and for a brief period during the study to help mitigate the risk of immune response to the gene therapy. Patients will be followed for safety and efficacy for an initial 2-year period post-treatment and then transition to less frequent monitoring schedule for an additional 3 years. The total duration of follow up in the study is 5 years.",[19],"Angelman Syndrome",[21,22,23,24],"Angelman syndrome","gene therapy","AAV","cisterna magna","INTERVENTIONAL","TREATMENT",[28,29],"PHASE1","PHASE2",{"count":31,"type":32},12,"ESTIMATED",[34],{"type":35,"name":36,"description":37,"armGroupLabels":38},"GENETIC","MVX-220","AAVhu68 viral vector",[39,40,41],"Cohort 1: Adults ages 18-50","Cohort 2: Children ages 4-8","Cohort 3: Optional cohort, adults and children ages 4-50",[43],{"measure":44,"timeFrame":45},"Incidence of Adverse Events, Serious Adverse Events, and Adverse Events of Special Interest as assessed through clinical safety, laboratory tests, ECG, vital sign measurements, and physical examinations","Up to Week 104",[47,51,54,57,60,63,66,69,73,75,77],{"measure":48,"description":49,"timeFrame":50},"Change in communication ability as assessed by the Observer Reported Communication Ability (ORCA) measure","The ORCA measure is a caregiver reporter assessment of communication ability that was developed specifically for Angelman syndrome. The ORCA measure produces a single score that is an estimate of an individual's overall level of communication ability, with higher T-scores reflecting greater communication ability.","From Baseline to Week 104",{"measure":52,"description":53,"timeFrame":50},"Change in developmental milestones as assessed by the Bayley Scale of Infant and Toddler Development, Fourth Edition (Bayley-4)","The Bayley-4 is a performance-based assessment of developmental functioning across communication, cognition, and motor skills. The total raw score reflects the sum of all the item scores within a subdomain, with higher scores reflecting greater ability.",{"measure":55,"description":56,"timeFrame":50},"Change in adaptive behaviors as assessed by Vineland Adaptive Behavior Scale (VABS-3)","The VABS-3 assesses adaptive behaviors across multiple domains through a clinician-directed interview of a caregiver of an individual with AS. The total raw score reflects the sum of all the item scores within a subdomain, with higher scores reflecting greater ability.",{"measure":58,"description":59,"timeFrame":50},"Change in Symptoms by the Angelman Severity Assessment (ASA)","The ASA is a clinician-reported outcome measure for Angelman syndrome. The clinicians rate their overall impression of the improvement in disease-related symptoms utilizing a 7-point scale, ranging from \"very much improved\" to \"very much worse\".",{"measure":61,"description":62,"timeFrame":50},"Change in behaviors as assessed by the Aberrant Behavior Checklist-Community (ABC-C)","The ABC-C is a caregiver-rated questionnaire that evaluates key domains in behavior. Items are assessed on a 4 point scale ranging from \"not at all a problem\" to \"the behavior is a severe problem\".",{"measure":64,"description":65,"timeFrame":50},"Change in ambulatory ability as assessed by the wearable device (Syde®)","The Syde is a wearable device that collects continuous data on the ambulatory ability of participants with AS.",{"measure":67,"description":68,"timeFrame":50},"Change in sleep parameters as assessed by a sleep diary","The sleep diary is a caregiver-reported measure of sleep in individuals with AS.",{"measure":70,"description":71,"timeFrame":72},"Change in health-related quality of life as assessed by Quality of Life Inventory-Disability (QI-Disability)","The QI-Disability is a caregiver-reported outcome assessment of the health-related quality of life for children and adolescents with intellectual disabilities. Item are rated on a 5-point scale, ranging from \"never\" to \"always \".","Baseline to Week 104",{"measure":74,"timeFrame":72},"Change in viral deoxyribonucleic acid (vDNA) levels in CSF and blood",{"measure":76,"timeFrame":50},"Change in viral DNA levels in urine and feces",{"measure":78,"timeFrame":79},"Change in relevant Electroencephalogram (EEG) parameters (delta power, epileptiform activity)","From Baselien through Week 104","ALL","4 Years","50 Years",false,{"inclusion":85,"exclusion":86,"raw_text":87},[],[],"Key Inclusion Criteria:\n\n1. The participant's parent\u002Flegal guardian must provide written informed consent.\n2. Symptoms consistent with AS and documented genetic confirmation of one of the following genotypes resulting in a diagnosis of AS:\n\n   1. Full maternal UBE3A gene deletion causing AS in the region of 15q11.2-q13\n   2. Uniparental disomy\n   3. Imprinting center defect\n3. The participant must be 18 to 50 years of age, inclusive (for adult participants), or 4 to 8 years of age, inclusive (for pediatric participants), at Screening.\n4. The participant must have the ability to ambulate independently.\n5. The participant must be on stable antiepileptic medications (with no changes within 1 month prior to the Screening visit, except for weight associated dose adjustments).\n\nKey Exclusion Criteria:\n\n1. Clinically significant medical finding other than AS, that, in the judgment of the Investigator would make the participant unsuitable for participation.\n2. Laboratory abnormalities including but not limited to:\n\n   1. Alanine aminotransferase (ALT) or aspartate aminotransferase (AST) \\> upper limit of normal (ULN)\n   2. Total and\u002For fractionated bilirubin (direct and\u002For indirect) \\> ULN\n   3. Gamma-glutamyl transferase (GGT) \\> ULN\n   4. Estimated glomerular filtration rate (eGFR) below the lower limit of normal (LLN) for age\n   5. Hemoglobin \\\u003C 8 g\u002FdL\n   6. White blood cell (WBC) count outside the normal range for age\n   7. Platelet count \\\u003C LLN\n   8. Partial thromboplastin time (PTT) outside the reference range\n   9. PT\u002FInternational normalized ratio (INR) outside the reference range\n3. Any known history and\u002For family history of hemophagocytic lymphohistiocytosis (HLH)\u002Fmacrophage activation syndrome (MAS) or multisystem inflammatory syndrome (MIS).\n4. Any known history and\u002For family history of disordered complement function and\u002For complement gene mutation(s).\n5. History of systemic lupus erythematous, Still's disease, rheumatoid arthritis, and\u002For other severe autoimmune conditions per judgment of the Investigator.\n6. Any known history of thrombotic microangiopathy (TMA)\u002Fmicroangiopathic hemolytic anemia, or hypercoagulable conditions including, but not limited to, disseminated intravascular coagulation (DIC), deep venous thrombosis, and pulmonary embolism.\n7. Current therapy with high dose immunosuppressants.\n8. Prior or current treatment with an investigational drug within 6 months or 5-half-lives of the hospital admission whichever is longer.\n9. Prior treatment with an antisense oligonucleotide within 1 year of hospital admission.\n10. A history of gene therapy administration.\n11. Any contraindication to ICM administration procedure, including contraindications to imaging, contrast use, anesthesia, or any condition that would increase the risk of adverse outcomes from the ICM procedure.\n12. Any contraindication to glucocorticoid use",[89,90],"CHILD","ADULT",[92,107,120],{"facility":93,"status":8,"city":94,"state":95,"zip":96,"country":97,"contacts":98,"geoPoint":104},"Cedars-Sinai Medical Center","Los Angeles","California","90048","United States",[99],{"name":100,"role":101,"phone":102,"email":103},"Alejandra Gonzalez","CONTACT","310-423-7779","Alejandra.Gonzalez2@cshs.org",{"lat":105,"lon":106},34.05223,-118.24368,{"facility":108,"status":8,"city":109,"state":110,"zip":111,"country":97,"contacts":112,"geoPoint":117},"Rush University Medical Center","Chicago","Illinois","60612",[113],{"name":114,"role":101,"phone":115,"email":116},"Milana Milic","888-352-7874","Milana_Milic@rush.edu",{"lat":118,"lon":119},41.85003,-87.65005,{"facility":121,"status":8,"city":122,"state":123,"zip":124,"country":97,"contacts":125,"geoPoint":130},"Boston Children's Hospital","Boston","Massachusetts","02115",[126],{"name":127,"role":101,"phone":128,"email":129},"Abigail Ryan","617-355-6000","Abigail.Ryan@childrens.harvard.edu",{"lat":131,"lon":132},42.35843,-71.05977,[134],{"name":13,"role":101,"phone":135,"email":136},"978-538-8554","info@mvxbio.com",[],[],[],{"nct_id":4,"conditions":141,"biomarkers":142},[19],[143],"Ubiquitin-Protein Ligase E3A",{"nct_id":4,"found":15,"summary":145,"prompt_version":155},{"design":146,"status":147,"heading":148,"summary":149,"follow_up":150,"word_count":151,"commitments":152,"compensation":153,"drugs_mentioned":154},"This is an interventional study with a planned enrollment of 12 participants, including adults and children. All participants will receive a single dose of the MVX-220 gene therapy.","completed","MVX-220 for Angelman Syndrome","This study is testing a gene therapy called MVX-220 for people with Angelman Syndrome. MVX-220 aims to provide a working copy of the UBE3A gene, which is often missing or not working correctly in Angelman Syndrome. The study will look at how safe MVX-220 is and how well it works in people aged 4 to 50 years old who have specific genetic types of Angelman Syndrome (deletion, uniparental disomy, or imprinting center defect). Researchers will monitor for any side effects and changes in your health for up to two years after treatment. The study is currently unclear about its recruitment status and plans to enroll 12 participants.","Participants will be followed for safety and efficacy for an initial 2-year period after treatment, with a total follow-up duration of 5 years.",107,"You would receive a single injection of MVX-220 into the cisterna magna (a space near the brain). You would also take steroids before and for a short time during the study, and have regular safety checks like lab tests, ECGs, and physical exams for up to two years.","Not stated in the trial record.",[36],"v2"]