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ClinicalTrials.gov public records Last synced May 21, 2026, 10:11 PM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 25–32 of 8 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Shprintzen Syndrome Clear all
Recruiting No phase listed Observational
View directory record Official record
Conditions
Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD), Neurodevelopmental Disorders and Developmental Abnormalities, Developmental Delay (Disorder), Cerebral Palsy (CP), Cerebral Palsy Hemiparetic Cerebral Palsy Spasticity Gait Disorders, Neurologic Postural Balance Impairment, Cerebral Palsy Infantile, Cerebral Palsy Spastic Hemiplegic, Cerebral Palsy, Dyskinetic, Autism Spectrum Disorder, Autism Spectrum Disorder (ASD, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE), Traumatic Brain Injury (TBI), Sensory Processing Disorder, Chromosomal Abnormalities, Genetic Disorders, Down Syndrome (Trisomy 21), Fragile X Syndrome (FXS), RETT Syndrome With Proven MECP2 Mutation, Williams Syndrome, 22q11.2 Deletion Syndrome, Sensorimotor Integration
Interventions
Not listed
Lead sponsor
Healing Hope International
Other
Eligibility
4 Years to 12 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2036
U.S. locations
1
States / cities
The Woodlands, Texas
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced May 21, 2026, 10:11 PM EDT
Terminated No phase listed Observational
View directory record Official record
Conditions
DiGeorge Syndrome, Congenital Heart Defects
Interventions
Not listed
Lead sponsor
Children's Healthcare of Atlanta
Other
Eligibility
Up to 15 Years
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2008
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Mar 15, 2012 · Synced May 21, 2026, 10:11 PM EDT
Active, not recruiting No phase listed Observational
View directory record Official record
Conditions
Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease, Thoracic Aortic Dissection, Thoracic Aortic Rupture, Ascending Aortic Disease, Descending Aortic Disease, Ascending Aortic Aneurysm, Descending Aortic Aneurysm, Marfan Syndrome, Loeys-Dietz Syndrome, Vascular Ehlers-Danlos Syndrome, Shprintzen-Goldberg Syndrome, Turner Syndrome, PHACE Syndrome, Autosomal Recessive Cutis Laxa, Congenital Contractural Arachnodactyly, Arterial Tortuosity Syndrome, Bicuspid Aortic Valve-Associated Aortopathy, Bicuspid Aortic Valve, Familial Thoracic Aortic Aneurysm and Aortic Dissection
Interventions
Not listed
Lead sponsor
Yale University
Other
Eligibility
Not listed
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2030
U.S. locations
2
States / cities
Atlanta, Georgia • Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Feb 12, 2026 · Synced May 21, 2026, 10:11 PM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Interventions
Not listed
Lead sponsor
Albert Einstein College of Medicine
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2029
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jul 21, 2025 · Synced May 21, 2026, 10:11 PM EDT
Terminated Phase 3 Interventional Results available
View directory record Official record
Conditions
Hypoparathyroidism, DiGeorge Syndrome
Interventions
PTH 1-34
Drug
Lead sponsor
National Institute of Dental and Craniofacial Research (NIDCR)
NIH
Eligibility
18 Years to 70 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 27, 2019 · Synced May 21, 2026, 10:11 PM EDT
Completed Phase 1 Interventional
View directory record Official record
Conditions
22q11.2 Deletion Syndrome
Interventions
NFC-1
Drug
Lead sponsor
Aevi Genomic Medicine, LLC, a Cerecor company
Industry
Eligibility
12 Years to 17 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 24, 2022 · Synced May 21, 2026, 10:11 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Perinatal Infections
Interventions
Observational - no intervention
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2021
U.S. locations
1
States / cities
Chattanooga, Tennessee
Source: ClinicalTrials.gov public record
Updated Sep 16, 2020 · Synced May 21, 2026, 10:11 PM EDT
Completed Phase 1 Interventional
View directory record Official record
Conditions
DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
Interventions
Thymus Tissue for Transplantation
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Apr 3, 2022 · Synced May 21, 2026, 10:11 PM EDT