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Results for “22q13 Deletion Syndrome”

19 trials

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Showing 19 of 19 results

Testing effectiveness (Phase 2)Study completedNCT03493607
What this trial is testing

AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy

Who this might be right for
Phelan-McDermid SyndromeEpilepsy
Alexander Kolevzon 6
Not applicableActive Not RecruitingNCT02461420
What this trial is testing

Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Who this might be right for
Phelan-McDermid SyndromeAutism Spectrum DisorderIntellectual Disability
Boston Children's Hospital 205
Not applicableLooking for participantsNCT07014020
What this trial is testing

RB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS)

Who this might be right for
Phelan-McDermid SyndromeSHANK3 Haploinsufficiency
Peking University First Hospital 8
Large-scale testing (Phase 3)Study completedNCT04623398
What this trial is testing

Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)

Who this might be right for
Autism Spectrum Disorder
Assistance Publique - Hôpitaux de Paris 22
Testing effectiveness (Phase 2)Study completedNCT05105685
What this trial is testing

Effectiveness of Recombinant Human Growth Hormone Therapy for Children With PMS

Who this might be right for
Phelan-McDermid SyndromeGrowth Hormone Treatment
Affiliated Hospital of Jiangnan University 6
Not applicableEnrolling By InvitationNCT03836300
What this trial is testing

Parent and Infant Inter(X)Action Intervention (PIXI)

Who this might be right for
Fragile X SyndromeAngelman SyndromePrader-Willi Syndrome+11 more
RTI International 120
Not applicableUnknownNCT04312152
What this trial is testing

Q10 Ubiquinol in Autism Spectrum Disorder and in Phelan-McDermid Syndrome.

Who this might be right for
Autism Spectrum DisorderPhelan-McDermid Syndrome
Antonio Persico 200
Testing effectiveness (Phase 2)Study completedNCT04003207
What this trial is testing

Growth Hormone Treatment in Children With Phelan McDermid Syndrome

Who this might be right for
Phelan McDermid Syndrome
Swathi Sethuram 6
Testing effectiveness (Phase 2)Study completedNCT05187377
What this trial is testing

A Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic Autism

Who this might be right for
Phelan-McDermid SyndromeAutism Spectrum Disorder (ASD)
Icahn School of Medicine at Mount Sinai 32
Large-scale testing (Phase 3)Looking for participantsNCT07593391
What this trial is testing

An Open-label Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome

Who this might be right for
Phelan-McDermid Syndrome
Neuren Pharmaceuticals Limited 180
Testing effectiveness (Phase 2)Study completedNCT02710084
What this trial is testing

Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome

Who this might be right for
Phelan-McDermid Syndrome
Alexander Kolevzon 18
Testing effectiveness (Phase 2)Study completedNCT01525901
What this trial is testing

Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)

Who this might be right for
22q13 Deletion SyndromePhelan-McDermid Syndrome
Icahn School of Medicine at Mount Sinai 19
Not applicableStudy completedNCT03426059
What this trial is testing

Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

Who this might be right for
Phelan-McDermid SyndromeAutism Spectrum DisorderIntellectual Disability
Boston Children's Hospital 24
Not applicableNot Yet RecruitingNCT07119606
What this trial is testing

Multicenter Study of Patients With SHANK3 Mutations: Identification of Genes Modificators in Phelan-McDermid Syndrome (EUQ13)

Who this might be right for
Genetic Disease
Assistance Publique - Hôpitaux de Paris 650
Testing effectiveness (Phase 2)Looking for participantsNCT06662188
What this trial is testing

JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency

Who this might be right for
SHANK3 HaploinsufficiencyPhelan-McDermid Syndrome
Jaguar Gene Therapy, LLC 6
Large-scale testing (Phase 3)Looking for participantsNCT07281079
What this trial is testing

NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome

Who this might be right for
Phelan-McDermid Syndrome
Neuren Pharmaceuticals Limited 160
Not applicableStudy completedNCT02000167
What this trial is testing

Mitochondrial Dysfunction in Phelan-McDermid Syndrome

Who this might be right for
Phelan-McDermid Syndrome
University of Arkansas 51
Not applicableLooking for participantsNCT06139172
What this trial is testing

Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)

Who this might be right for
Telomeric 22Q13 Monosomy SyndromeTuberous SclerosisHamartoma Syndrome, Multiple+5 more
Rush University Medical Center 92
Testing effectiveness (Phase 2)Study completedNCT05025241
What this trial is testing

An Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001)

Who this might be right for
Phelan-McDermid Syndrome
Neuren Pharmaceuticals Limited 18