[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"phelan-mcdermid-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:phelan-mcdermid-syndrome":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,46,68],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100614552","phase-3-a-study-of-nnz-2591-in-pediatric-participants-with-phelan-mcdermid-syndrome-100614552",false,"NCT07281079","A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome","A Phase 3 Randomized, Double-blind, Placebo-controlled Study to Investigate the Efficacy and Safety of Orally Administered NNZ-2591 Compared With Placebo in Pediatric Participants With Phelan-McDermid Syndrome","Inclusion Criteria:\n\n1. Male or female pediatric participants with Phelan-McDermid syndrome ages 3 to 12 years (inclusive) at the time of signing the informed consent.\n2. Clinical diagnosis of Phelan-McDermid syndrome with a documented disease-causing genetic abnormality of SHANK3.\n3. Body weight ≥ 10 kg at Screening.\n4. Participants with a PMSA-S overall score ≥ 3 at the Screening and Baseline visits.\n5. Not actively undergoing regression or loss of skills.\n\nExclusion Criteria:\n\n1. Use of exclusionary medication or unstable treatment regimens of acceptable concomitant medications as required by the protocol.\n2. Current treatment with more than 3 allowable psychotropic medications.\n3. Participants with seizures must be controlled on no more than 2 anticonvulsant medications (not counting rescue medications).\n4. Psychotropic medications or any other medication used for a chronic illness (not including antibiotics, pain relievers, anti-diarrheals, and laxatives) with doses and dosing regimen that have not been stable for at least 4 weeks before Screening. If the treatment was discontinued, the discontinuation must have occurred no fewer than 2 weeks before the start of Screening.\n5. Any intercurrent seizures in the past 6 months and \u002For more than 1 seizure in the past 12 months. •A single febrile seizure in the 6 months prior to screening is allowable if no rescue medication was required.\n6. Abnormal liver function laboratory results during the Screening period, as defined by the protocol\n7. Abnormal QT interval on Screening ECG as defined by the protocol.","ALL","3 Years","12 Years",{"count":20,"type":21},160,"ESTIMATED","INTERVENTIONAL",[24],"PHASE3","This Phase 3, randomized, double-blind, parallel-group (2-arm), placebo-controlled, multicenter study will evaluate the efficacy and safety of NNZ-2591 compared to placebo in pediatric participants with Phelan- McDermid Syndrome.",[27],"Phelan-McDermid Syndrome",[29,30,31,32],"Phelan McDermid Syndrome","NEU-2591-PMS-301","NNZ-2591","Neuren","RECRUITING","2026-08-24",{"date":36,"type":37},"2026-08-25","ACTUAL",{"date":39,"type":37},"2025-11-12",{"date":41,"type":21},"2027-11-15",{"name":43,"class":44},"Neuren Pharmaceuticals Limited","INDUSTRY",15,{"id":47,"slug":48,"hasResults":11,"nctId":49,"briefTitle":50,"officialTitle":51,"acronym":4,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":53,"targetDuration":4,"studyType":22,"phases":55,"briefSummary":56,"conditions":57,"keywords":58,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":59,"lastUpdatePostDateStruct":60,"startDateStruct":62,"completionDateStruct":64,"leadSponsor":66,"locationsCount":67},"100640842","phase-3-an-open-label-study-of-nnz-2591-in-pediatric-participants-with-phelan-mcdermid-syndrome-100640842","NCT07593391","An Open-label Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome","A Phase 3 Open-label Extension Study to Investigate the Long-term Safety and Efficacy of Orally Administered NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome","Inclusion Criteria:\n\n1. Male or female pediatric participants with Phelan-McDermid syndrome ages 3 to 12 years (inclusive) at the time of signing the informed consent for the antecedent study.\n2. Participant must have completed all applicable study visits for the antecedent study in which they participated.\n3. Body weight ≥ 10 kg at Screening\u002FBaseline.\n4. Participants with a PMSA-S overall score ≥ 3 at the Screening and Baseline visits.\n5. Not actively undergoing regression or loss of skills.\n\nExclusion Criteria:\n\n1. Use of exclusionary medication or unstable treatment regimens of acceptable concomitant medications as required by the protocol.\n2. Participants with seizures must be controlled on no more than 2 anticonvulsant medications (not counting rescue medications).\n3. Psychotropic medications or any other medication used for a chronic illness (not including antibiotics, pain relievers, anti-diarrheals, and laxatives) with doses and dosing regimen that have not been stable for at least 4 weeks before Screening. If the treatment was discontinued, the discontinuation must have occurred no fewer than 2 weeks before the start of Screening.\n4. Any intercurrent seizures in the past 6 months and \u002For more than 1 seizure in the past 12 months. •A single febrile seizure in the 6 months prior to screening is allowable if no rescue medication was required.\n5. Abnormal liver function laboratory results during the Screening period, as defined by the protocol\n6. Abnormal QT interval on Screening ECG as defined by the protocol.",{"count":54,"type":21},180,[24],"This Phase 3, open-label extension, multicenter study will evaluate long-term safety, tolerability and efficacy of NNZ-2591 in pediatric participants with Phelan- McDermid Syndrome.",[27],[29,30,31,32],"2026-08-10",{"date":61,"type":37},"2026-08-12",{"date":63,"type":37},"2026-06-08",{"date":65,"type":21},"2028-11-12",{"name":43,"class":44},6,{"id":69,"slug":70,"hasResults":11,"nctId":71,"briefTitle":72,"officialTitle":73,"acronym":4,"eligibilityCriteria":74,"healthyVolunteers":11,"sex":16,"minAge":75,"maxAge":76,"enrollmentInfo":77,"targetDuration":4,"studyType":22,"phases":78,"briefSummary":81,"conditions":82,"keywords":84,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":86,"lastUpdatePostDateStruct":87,"startDateStruct":89,"completionDateStruct":91,"leadSponsor":93,"locationsCount":5},"100566977","phase-1-jag201-gene-therapy-study-in-children--adults-with-shank3-haploinsufficiency-100566977","NCT06662188","JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency","A Phase 1\u002F2, Multicenter, Open-Label, Dose-Escalation, Safety, Tolerability, and Clinical Activity Study of a Single Dose of JAG201 Gene Therapy Delivered Via Intracerebroventricular Administration in Participants With SHANK3 Haploinsufficiency","Key Inclusion Criteria:\n\n1. Is male or female, and 2 to 9 years of age at the time of JAG201 administration\n2. Has a molecular confirmation of a loss of function mutation in SHANK3 or a 22q13.3 deletion classified as a Class I deletion\n3. Has evidence of developmental\u002Fcognitive delay of at least 2 standard deviations (SD) below the mean (i.e., ≤ 70) via either Intelligence Quotient (IQ) OR Developmental Quotient (DQ) assessment (as applicable)\n4. Has an overall Phelan-McDermid Syndrome (PMS) Assessment of Severity (PMSA-S) Score of 3 or greater at Screening\n5. Willing to initiate structured therapies and continue for the duration of the study as determined by the specific therapist (structured therapies may include, at a minimum, physical therapy, occupational therapy, speech therapy, and applied behavior analysis)\n6. Is stable on any medication regimens (if being administered to control the signs and symptoms of underlying disease) for at least 3 months prior to the planned JAG201 study treatment\n7. If undergoing any kind of behavioral or therapeutic intervention, then the level of intervention must have remained stable for at least 3 months prior to the planned JAG201 study treatment (exclusive of school vacations\u002Fillness).\n8. Is a permanent legal resident of the U.S. residing within the continental U.S.\n\nKey Exclusion Criteria:\n\nA pediatric participant who meets any of the following criteria will be excluded from this study:\n\n1. Has history of developmental regression defined in this study as a prolonged loss of previously acquired skills (defined as skills maintained for at least 3 months) with loss of skills persisting for at least 3 months\n2. Has known or suspected prion disease (e.g., Creutzfeldt-Jakob Disease)\n3. Has poorly-controlled epilepsy (defined as an increase in the dose or addition of new anti-epileptic medications within the past 3 months) or any history of status epilepticus or seizure-induced hospitalizations within the last 12 months\n4. Has history of acute cerebrovascular episodes\n5. Has active autoimmune disease or prior treatment with immunomodulatory therapy, immunotherapy, and\u002For immunosuppressive drugs within 3 months prior to study enrollment (Note: Inhaled or topical steroids are permitted in the absence of active autoimmune disease)\n6. Has infection (viral, bacterial, or fungal) that requires treatment \\\u003C 6 weeks before JAG201 administration (Note: JAG201 administration may be postponed until the infection has resolved and the participant is clinically stable)\n7. Has medical illness or other concern that would cause the Investigator to conclude that the participant will not be able to perform the study procedures or assessments or would confound interpretation of data obtained during assessments\n8. Has known allergy or hypersensitivity to prednisolone or other glucocorticosteroids, or their excipients\n9. Has received any vaccine \\\u003C 6 weeks before JAG201 administration\n10. Has received any gene therapy","2 Years","9 Years",{"count":67,"type":21},[79,80],"PHASE1","PHASE2","This is a Phase 1\u002F2, first in human, open-label, dose-escalation study to evaluate the safety, tolerability, and clinical activity of a single dose of JAG201 administered via intracerebroventricular (ICV) injection in pediatric and adult participants with SHANK3 haploinsufficiency resulting from SHANK3 loss of function mutations and chromosomal deletions encompassing the SHANK3 gene. Clinical data will be evaluated for safety, tolerability, and preliminary clinical activity of JAG201 in pediatric and adult participants with SHANK3 haploinsufficiency. The pediatric cohorts will start enrolling first and the enrollment for adult cohorts may be initiated at a later timepoint in the study.",[83,27],"SHANK3 Haploinsufficiency",[83,85,27],"SHANK3","2026-02-05",{"date":88,"type":37},"2026-02-09",{"date":90,"type":37},"2024-01-07",{"date":92,"type":21},"2031-06",{"name":94,"class":44},"Jaguar Gene Therapy, LLC"]