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ClinicalTrials.gov public records Last synced May 21, 2026, 11:39 PM EDT

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Showing 1–13 of 13 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: 22q13 Deletion Syndrome Clear all
Active, not recruiting No phase listed Observational Accepts healthy volunteers
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
205 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 Feb 16, 2025 · Synced May 21, 2026, 11:39 PM EDT
Completed Phase 2 Interventional Results available
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 11, 2022 · Synced May 21, 2026, 11:39 PM EDT
Completed No phase listed Observational
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 17, 2025 · Synced May 21, 2026, 11:39 PM EDT
Completed Phase 2 Interventional Results available
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 5, 2021 · Synced May 21, 2026, 11:39 PM EDT
Completed Phase 2 Interventional Results available
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 26, 2025 · Synced May 21, 2026, 11:39 PM EDT
Recruiting Not applicable Interventional
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
92 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jan 22, 2026 · Synced May 21, 2026, 11:39 PM EDT
Completed Phase 2 Interventional
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 19, 2025 · Synced May 21, 2026, 11:39 PM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers
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 30, 2025 · Synced May 21, 2026, 11:39 PM EDT
Completed Phase 2 Interventional Results available
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 2, 2025 · Synced May 21, 2026, 11:39 PM EDT
Recruiting Phase 3 Interventional
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
5
States / cities
San Rafael, California • Chevy Chase, Maryland • Brookline, Massachusetts + 2 more
Source: ClinicalTrials.gov public record
Updated May 7, 2026 · Synced May 21, 2026, 11:39 PM EDT
Recruiting Phase 1Phase 2 Interventional
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 Feb 8, 2026 · Synced May 21, 2026, 11:39 PM EDT
Completed Phase 2 Interventional Results available
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 1, 2024 · Synced May 21, 2026, 11:39 PM EDT
Completed No phase listed Observational
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 4, 2021 · Synced May 21, 2026, 11:39 PM EDT