Not applicableStudy completedNCT02000167What this trial is testingMitochondrial Dysfunction in Phelan-McDermid SyndromeWho this might be right forPhelan-McDermid Syndrome University of Arkansas 51
Not applicableNot Yet RecruitingNCT07119606What this trial is testingMulticenter Study of Patients With SHANK3 Mutations: Identification of Genes Modificators in Phelan-McDermid Syndrome (EUQ13)Who this might be right forGenetic Disease Assistance Publique - Hôpitaux de Paris 650
Not applicableStudy completedNCT03426059What this trial is testingMapping the Phenotype in Adults With Phelan-McDermid SyndromeWho this might be right forPhelan-McDermid SyndromeAutism Spectrum DisorderIntellectual Disability Boston Children's Hospital 24
Testing effectiveness (Phase 2)Study completedNCT04003207What this trial is testingGrowth Hormone Treatment in Children With Phelan McDermid SyndromeWho this might be right forPhelan McDermid Syndrome Swathi Sethuram 6
Testing effectiveness (Phase 2)Study completedNCT05105685What this trial is testingEffectiveness of Recombinant Human Growth Hormone Therapy for Children With PMSWho this might be right forPhelan-McDermid SyndromeGrowth Hormone Treatment Affiliated Hospital of Jiangnan University 6
Not applicableActive Not RecruitingNCT02461420What this trial is testingMapping the Genotype, Phenotype, and Natural History of Phelan-McDermid SyndromeWho this might be right forPhelan-McDermid SyndromeAutism Spectrum DisorderIntellectual Disability Boston Children's Hospital 205
Testing effectiveness (Phase 2)Study completedNCT02710084What this trial is testingPiloting Treatment With Intranasal Oxytocin in Phelan-McDermid SyndromeWho this might be right forPhelan-McDermid Syndrome Alexander Kolevzon 18
Large-scale testing (Phase 3)Looking for participantsNCT07281079What this trial is testingNNZ-2591 in Pediatric Participants With Phelan-McDermid SyndromeWho this might be right forPhelan-McDermid Syndrome Neuren Pharmaceuticals Limited 160
Not applicableEnrolling By InvitationNCT03836300What this trial is testingParent and Infant Inter(X)Action Intervention (PIXI)Who this might be right forFragile X SyndromeAngelman SyndromePrader-Willi Syndrome+11 more RTI International 120
Large-scale testing (Phase 3)Study completedNCT04623398What this trial is testingEffect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)Who this might be right forAutism Spectrum Disorder Assistance Publique - Hôpitaux de Paris 22
Testing effectiveness (Phase 2)Study completedNCT05025241What this trial is testingAn Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001)Who this might be right forPhelan-McDermid Syndrome Neuren Pharmaceuticals Limited 18
Testing effectiveness (Phase 2)Study completedNCT03493607What this trial is testingAMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid EpilepsyWho this might be right forPhelan-McDermid SyndromeEpilepsy Alexander Kolevzon 6
Not applicableLooking for participantsNCT07014020What this trial is testingRB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS)Who this might be right forPhelan-McDermid SyndromeSHANK3 Haploinsufficiency Peking University First Hospital 8
Testing effectiveness (Phase 2)Study completedNCT05187377What this trial is testingA Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic AutismWho this might be right forPhelan-McDermid SyndromeAutism Spectrum Disorder (ASD) Icahn School of Medicine at Mount Sinai 32
Not applicableLooking for participantsNCT06139172What this trial is testingWeb Intervention for Parents of Youth With Genetic Syndromes (WINGS)Who this might be right forTelomeric 22Q13 Monosomy SyndromeTuberous SclerosisHamartoma Syndrome, Multiple+5 more Rush University Medical Center 92
Not applicableStudy completedNCT02109770What this trial is testingDevelopment of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNAWho this might be right forMicrodeletion SyndromesTrisomy 21Trisomy 18+2 more Natera, Inc. 216
Testing effectiveness (Phase 2)Study completedNCT01525901What this trial is testingClinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)Who this might be right for22q13 Deletion SyndromePhelan-McDermid Syndrome Icahn School of Medicine at Mount Sinai 19
Testing effectiveness (Phase 2)Looking for participantsNCT06662188What this trial is testingJAG201 Gene Therapy Study in Children & Adults With SHANK3 HaploinsufficiencyWho this might be right forSHANK3 HaploinsufficiencyPhelan-McDermid Syndrome Jaguar Gene Therapy, LLC 6
Not applicableUnknownNCT04312152What this trial is testingQ10 Ubiquinol in Autism Spectrum Disorder and in Phelan-McDermid Syndrome.Who this might be right forAutism Spectrum DisorderPhelan-McDermid Syndrome Antonio Persico 200