- 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
Search Results
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Showing 1–24
of 63
matching trials from the live ClinicalTrials.gov search.
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- 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
- Short Stature
- Interventions
- Vosoritide
- Drug
- Lead sponsor
- Andrew Dauber
- Other
- Eligibility
- 3 Years to 10 Years
- Enrollment
- 56 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2035
- U.S. locations
- 1
- States / cities
- Washington D.C., District of Columbia
- Conditions
- Marfan Syndrome, Loeys-Dietz Syndrome, Thoracic Aortic Aneurysm and Dissection Syndromes, Ehlers-Danlos Type IV Syndrome, Turner Syndrome
- Interventions
- Not listed
- Lead sponsor
- University of Colorado, Denver
- Other
- Eligibility
- 30 Days to 60 Years
- Enrollment
- 20 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2014 – 2016
- U.S. locations
- 2
- States / cities
- Aurora, Colorado
- 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
- Hypofibrinogenemia, Afibrinogenemia, Bleeding Disorders
- Interventions
- RiaStAP, Saline
- Drug
- Lead sponsor
- Nicklaus Children's Hospital f/k/a Miami Children's Hospital
- Other
- Eligibility
- 1 Day to 1 Year
- Enrollment
- 30 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2020
- U.S. locations
- 2
- States / cities
- Miami, Florida
- Conditions
- Brain Disorders, Birth Defects, Craniofacial Differences
- Interventions
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- 2 Years to 80 Years
- Enrollment
- 207 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2020
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Solid Tumor, Unspecified, Adult
- Interventions
- RLY-1971
- Drug
- Lead sponsor
- Hoffmann-La Roche
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 56 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2022
- U.S. locations
- 6
- States / cities
- Lake Mary, Florida • Sarasota, Florida • Boston, Massachusetts + 1 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
- SGA, Turner Syndrome, Noonan Syndrome, ISS
- Interventions
- Somapacitan, Norditropin®
- Drug
- Lead sponsor
- Novo Nordisk A/S
- Industry
- Eligibility
- 2 Years to 10 Years
- Enrollment
- 412 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2027
- U.S. locations
- 35
- States / cities
- Birmingham, Alabama • Los Angeles, California • Sacramento, California + 32 more
- Conditions
- Complex Aortic Aneurysms, Thoracoabdominal Aneurysms, Pararenal Aneurysms, Juxtarenal Aneurysms, Marfan Syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, Aortic Arch Aneurysm
- Interventions
- Custom Made Fenestrated or Branched Stent Graft
- Device
- Lead sponsor
- Andres Schanzer
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 600 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2030
- U.S. locations
- 1
- States / cities
- Worcester, Massachusetts
- 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
- Neurofibromatosis 1, Noonan Syndrome, Legius Syndrome, Cardiofaciocutaneous Syndrome, Costello Syndrome
- Interventions
- Waitlist, ACT Intervention
- Behavioral
- Lead sponsor
- National Cancer Institute (NCI)
- NIH
- Eligibility
- 18 Years and older
- Enrollment
- 70 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2024 – 2027
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Solid Tumors
- Interventions
- RMC-4630
- Drug
- Lead sponsor
- Revolution Medicines, Inc.
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 133 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2023
- U.S. locations
- 12
- States / cities
- Scottsdale, Arizona • Duarte, California • Orange, California + 9 more
- Conditions
- Chronic Pain, Marfan Syndrome, Vascular Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome
- Interventions
- Empowered Relief
- Behavioral
- Lead sponsor
- Stanford University
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 92 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024
- U.S. locations
- 1
- States / cities
- Palo Alto, California
- 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
- Advanced EGFR Mutant Non Small Cell LungCancer (NSCLC), KRAS G12-mutant NSCLC, Esophageal Squamous Cell Cancer (SCC), Head/Neck SCC, Melanoma, Advanced Gastrointestinal Stromal Tumors (GIST), Advanced NRAS/BRAFT wt Cutaneous Melanoma
- Interventions
- TNO155, TNO155 in combination with EGF816 (nazartinib)
- Drug
- Lead sponsor
- Novartis Pharmaceuticals
- Industry
- Eligibility
- 18 Years to 99 Years
- Enrollment
- 227 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2025
- U.S. locations
- 4
- States / cities
- Tampa, Florida • Boston, Massachusetts • New York, New York + 1 more
- 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
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
- Interventions
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Behavioral
- Lead sponsor
- Children's National Research Institute
- Other
- Eligibility
- 12 Months to 99 Years
- Enrollment
- 480 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2025 – 2029
- U.S. locations
- 1
- States / cities
- Washington D.C., District of Columbia
- 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