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ClinicalTrials.gov public records Last synced Oct 6, 2026, 11:35 AM EDT

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Showing 1–14 of 14 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Telomeric 22Q13 Monosomy Syndrome Clear all
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

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

NCT03836300
View directory record Official record
Conditions
Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome, Duchenne Muscular Dystrophy, Phelan-McDermid Syndrome, Rett Syndrome, Smith Magenis Syndrome, Williams Syndrome, Turner Syndrome, Klinefelter Syndrome, Chromosome 22q11.2 Deletion Syndrome, Tuberous Sclerosis, Down Syndrome
Interventions
Parent-Infant Inter(X)action Intervention (PIXI)
Behavioral
Lead sponsor
RTI International
Other
Eligibility
Up to 99 Years
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2026
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Oct 6, 2026, 11:35 AM EDT
Recruiting Phase 1Phase 2 Interventional

JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency

NCT06662188
View directory record Official record
Conditions
SHANK3 Haploinsufficiency, Phelan-McDermid Syndrome
Interventions
JAG201
Genetic
Lead sponsor
Jaguar Gene Therapy, LLC
Industry
Eligibility
2 Years to 9 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2031
U.S. locations
3
States / cities
Chicago, Illinois • Boston, Massachusetts • New York, New York
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Oct 6, 2026, 11:35 AM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

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

NCT02461420
View directory record Official record
Conditions
Phelan-McDermid Syndrome, Autism Spectrum Disorder, Intellectual Disability
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
18 Months and older
Enrollment
207 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2026
U.S. locations
5
States / cities
Stanford, California • Chicago, Illinois • Bethesda, Maryland + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 6, 2026 · Synced Oct 6, 2026, 11:35 AM EDT
Completed Phase 2 Interventional Results available

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

NCT03493607
View directory record Official record
Conditions
Phelan-McDermid Syndrome, Epilepsy
Interventions
AMO-01
Drug
Lead sponsor
Alexander Kolevzon
Other
Eligibility
12 Years to 45 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
2
States / cities
New York, New York • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 27, 2025 · Synced Oct 6, 2026, 11:35 AM EDT
Completed Phase 2 Interventional

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

NCT05187377
View directory record Official record
Conditions
Phelan-McDermid Syndrome, Autism Spectrum Disorder (ASD)
Interventions
Growth Hormone, Saline
Drug
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
2 Years to 12 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Apr 20, 2025 · Synced Oct 6, 2026, 11:35 AM EDT
Completed Phase 2 Interventional Results available

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

NCT01525901
View directory record Official record
Conditions
22q13 Deletion Syndrome, Phelan-McDermid Syndrome
Interventions
Insulin-Like Growth Factor-1 (IGF-1), Normal saline
Drug
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
5 Years to 12 Years
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated May 12, 2022 · Synced Oct 6, 2026, 11:35 AM EDT
Active, not recruiting Not applicable Interventional

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

NCT06139172
View directory record Official record
Conditions
Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis, Hamartoma Syndrome, Multiple, Fragile X Syndrome, Angelman Syndrome, Rett Syndrome, Chromosome 15Q, Partial Deletion, Creatine Deficiency, X-linked
Interventions
Functional Behavioral Training (FBT), Positive Parenting Strategies-Treatment as Usual
Behavioral · Other
Lead sponsor
Rush University Medical Center
Other
Eligibility
2 Years to 12 Years
Enrollment
79 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Sep 18, 2026 · Synced Oct 6, 2026, 11:35 AM EDT
Completed No phase listed Observational

Mitochondrial Dysfunction in Phelan-McDermid Syndrome

NCT02000167
View directory record Official record
Conditions
Phelan-McDermid Syndrome
Interventions
Not listed
Lead sponsor
University of Arkansas
Other
Eligibility
1 Year to 21 Years
Enrollment
51 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
1
States / cities
Little Rock, Arkansas
Source: ClinicalTrials.gov public record
Updated Aug 5, 2021 · Synced Oct 6, 2026, 11:35 AM EDT
Completed No phase listed Observational

Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

NCT03426059
View directory record Official record
Conditions
Phelan-McDermid Syndrome, Autism Spectrum Disorder, Intellectual Disability
Interventions
No Intervention
Other
Lead sponsor
Boston Children's Hospital
Other
Eligibility
22 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
6
States / cities
Stanford, California • Chicago, Illinois • Bethesda, Maryland + 3 more
Source: ClinicalTrials.gov public record
Updated Feb 18, 2025 · Synced Oct 6, 2026, 11:35 AM EDT
Completed Phase 2 Interventional Results available

Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome

NCT02710084
View directory record Official record
Conditions
Phelan-McDermid Syndrome
Interventions
Oxytocin, Saline
Drug
Lead sponsor
Alexander Kolevzon
Other
Eligibility
5 Years to 17 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2020
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Dec 6, 2021 · Synced Oct 6, 2026, 11:35 AM EDT
Completed Phase 2 Interventional Results available

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

NCT05025241
View directory record Official record
Conditions
Phelan-McDermid Syndrome
Interventions
NNZ-2591
Drug
Lead sponsor
Neuren Pharmaceuticals Limited
Industry
Eligibility
3 Years to 12 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
4
States / cities
Chicago, Illinois • Boston, Massachusetts • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 3, 2025 · Synced Oct 6, 2026, 11:35 AM EDT
Completed Phase 2 Interventional Results available

Growth Hormone Treatment in Children With Phelan McDermid Syndrome

NCT04003207
View directory record Official record
Conditions
Phelan McDermid Syndrome
Interventions
Recombinant human Growth hormone
Drug
Lead sponsor
Swathi Sethuram
Other
Eligibility
2 Years to 12 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated May 2, 2024 · Synced Oct 6, 2026, 11:35 AM EDT
Recruiting Phase 3 Interventional

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

NCT07593391
View directory record Official record
Conditions
Phelan-McDermid Syndrome
Interventions
NNZ-2591
Drug
Lead sponsor
Neuren Pharmaceuticals Limited
Industry
Eligibility
3 Years to 12 Years
Enrollment
180 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
9
States / cities
Birmingham, Alabama • Glendale, California • San Rafael, California + 6 more
Source: ClinicalTrials.gov public record
Updated Sep 21, 2026 · Synced Oct 6, 2026, 11:35 AM EDT
Recruiting Phase 3 Interventional

A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome

NCT07281079
View directory record Official record
Conditions
Phelan-McDermid Syndrome
Interventions
NNZ-2591, Placebo
Drug
Lead sponsor
Neuren Pharmaceuticals Limited
Industry
Eligibility
3 Years to 12 Years
Enrollment
160 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
17
States / cities
Birmingham, Alabama • Glendale, California • Palo Alto, California + 14 more
Source: ClinicalTrials.gov public record
Updated Sep 28, 2026 · Synced Oct 6, 2026, 11:35 AM EDT