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Conditions: DiGeorge Syndrome, Velocardiofacial Syndrome, 22q11.2 Syndrome
Interventions: Not listed
Lead sponsor: National Institute of Mental Health (NIMH); NIH
Eligibility: 18 Years to 50 Years
Healthy volunteers: Accepts healthy volunteers
Timeline: 2005 – 2010
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: 22Q11.2 Deletion Syndrome
Interventions: ZYN002; Drug
Lead sponsor: Harmony Biosciences Management, Inc.; Industry
Eligibility: 4 Years to 17 Years
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2022
U.S. locations: 1
States / cities: Greenville, South Carolina

Conditions: Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome, Smith-Magenis Syndrome, DiGeorge Syndrome, Chromosome Abnormalities
Interventions: Not listed
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: 0 Years and older
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1999
U.S. locations: 1
States / cities: Houston, Texas

Conditions: DiGeorge Anomaly, DiGeorge Syndrome, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
Interventions: Cultured Thymus Tissue Implantation (CTTI), Cultured Thymus Tissue Implantation with Parathyroid Transplantation; Biological · Other
Lead sponsor: Sumitomo Pharma Switzerland GmbH; Industry
Eligibility: Not listed
Enrollment: 7 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2004 – 2019
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: 22q11.2 Deletion Syndrome, Velo-Cardio-Facial Syndrome
Interventions: Cognitive remediation program, Small group social skills training; Behavioral
Lead sponsor: Duke University; Other
Eligibility: 11 Years to 17 Years
Enrollment: 38 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2015
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X, Sex Chromosome Abnormalities, Cri-du-Chat Syndrome, Angelman Syndrome, Prader-Willi Syndrome, 1p36 Deletion Syndrome
Interventions: Not listed
Lead sponsor: Natera, Inc.; Industry
Eligibility: 18 Years to 48 Years · Female only
Enrollment: 20,960 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015 – 2020
U.S. locations: 16
States / cities: San Francisco, California • Camden, New Jersey • Mount Laurel, New Jersey + 10 more

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

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

Conditions: Complete DiGeorge Anomaly, DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Syndrome
Interventions: Cultured Thymus Tissue; Biological
Lead sponsor: Sumitomo Pharma Switzerland GmbH; Industry
Eligibility: Not listed
Enrollment: 29 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2023
U.S. locations: 1
States / cities: Durham, North Carolina

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

Conditions: Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Chromosome Deletion, Aneuploidy
Interventions: Blood sampling for Laboratory Developed Test (LDT) analysis; Other
Lead sponsor: Progenity, Inc.; Industry
Eligibility: 18 Years to 54 Years · Female only
Enrollment: 760 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2018
U.S. locations: 8
States / cities: Scottsdale, Arizona • Eunice, Louisiana • Brooklyn, New York + 5 more

Conditions: Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome, Trisomy 13, Trisomy 18, Sex Chromosome Abnormalities
Interventions: Not listed
Lead sponsor: BillionToOne Inc.; Industry
Eligibility: Female only
Enrollment: 1,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2028
U.S. locations: 6
States / cities: Phoenix, Arizona • West Covina, California • Sarasota, Florida + 3 more

Conditions: DiGeorge Syndrome, Hypoparathyroidism, Complete DiGeorge Syndrome
Interventions: Thymus/Parathyroid Transplantation; Biological
Lead sponsor: Sumitomo Pharma Switzerland GmbH; Industry
Eligibility: Up to 24 Months
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2019
U.S. locations: 1
States / cities: Durham, North Carolina

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

Conditions: Immune Deficiency Disorders, Severe Combined Immunodeficiency, Chronic Granulomatous Disease, X-linked Agammaglobulinemia, Wiskott-Aldrich Syndrome, Hyper-IgM, DiGeorge Syndrome, Chediak-Higashi Syndrome, Common Variable Immune Deficiency, Immune Dysregulatory Disorders, Hemophagocytic Lymphohistiocytosis, IPEX, Autoimmune Lymphoproliferative Syndrome, X-linked Lymphoproliferative Syndrome
Interventions: Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan; Drug
Lead sponsor: Washington University School of Medicine; Other
Eligibility: Up to 21 Years
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2026
U.S. locations: 1
States / cities: St Louis, Missouri

Conditions: Velocardiofacial Syndrome
Interventions: Challenging Our Minds Program; Behavioral
Lead sponsor: State University of New York - Upstate Medical University; Other
Eligibility: 12 Years to 16 Years
Enrollment: 37 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2015
U.S. locations: 1
States / cities: Syracuse, New York

Conditions: 22q11 Deletion Syndrome
Interventions: NB-001, Placebo; Drug · Other
Lead sponsor: Nobias Therapeutics, Inc.; Industry
Eligibility: 6 Years to 17 Years
Enrollment: 37 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2023
U.S. locations: 3
States / cities: Aurora, Colorado • Philadelphia, Pennsylvania • Seattle, Washington

Conditions: Congenital Disorders
Interventions: Not listed
Lead sponsor: Children's Healthcare of Atlanta; Other
Eligibility: Up to 6 Years
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1967 – 2006
U.S. locations: 1
States / cities: Atlanta, Georgia

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

Conditions: 22Q11 Deletion Syndrome
Interventions: Aware Program; Behavioral
Lead sponsor: Innovation Research & Training; Other
Eligibility: 12 Years to 19 Years
Enrollment: 110 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2023 – 2024
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Chromosome 22q11.2 Deletion Syndrome
Interventions: Not listed
Lead sponsor: UMC Utrecht; Other
Eligibility: 8 Years to 20 Years
Enrollment: 175 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2002 – 2012
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Complete DiGeorge Anomaly, Complete DiGeorge Syndrome, Congenital Athymia
Interventions: Cultured Thymus Tissue; Biological
Lead sponsor: Sumitomo Pharma Switzerland GmbH; Industry
Eligibility: 0 Years to 21 Years
Enrollment: 75 participants
Timeline: 2022 – 2026
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: 22q11.2 Deletion Syndrome
Interventions: Observation; Other
Lead sponsor: State University of New York - Upstate Medical University; Other
Eligibility: Not listed
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2015
U.S. locations: 1
States / cities: Syracuse, New York

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

Search by objective public record fields.

Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study

Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)

Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

Thymus Transplantation Dose in DiGeorge #932

Cognitive Remediation in 22q11DS

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

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

Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders

Thymus Transplantation Safety-Efficacy

Thymus Transplantation With Immunosuppression

Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment

Parathyroid and Thymus Transplantation in DiGeorge #931

Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions

Immune Disorder HSCT Protocol

Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome

NB-001 in Children and Adolescents With 22q11 Deletion Syndrome

Prevalence and Clinical Spectrum of the 22q11 Deletion

Whole Blood Specimen Collection From Pregnant Subjects

Mindfulness Program for Adolescents With 22q11DS

Genetics and Psychopathology in the 22q11 Deletion Syndrome

Congenital Athymia Patient Registry

Genetic Modifiers for 22q11.2 Syndrome

Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome