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Conditions: Prader-Willi Syndrome
Interventions: GLWL-01, Placebo; Drug
Lead sponsor: GLWL Research Inc.; Other
Eligibility: 16 Years to 65 Years
Enrollment: 19 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2019
U.S. locations: 4
States / cities: San Diego, California • Gainesville, Florida • Cleveland, Ohio + 1 more

Conditions: Klinefelter Syndrome
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 14 Years to 80 Years · Male only
Enrollment: 302 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2015
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete Atypical DiGeorge Anomaly, Complete DiGeorge Syndrome, Complete Atypical DiGeorge Syndrome
Interventions: Cultured Thymus Tissue for Implantation (CTTI), Cultured Thymus Tissue Implantation and Parental Parathyroid Transplantation, Blood Draw, Rabbit anti-thymocyte globulin, Cyclosporine, Tacrolimus, Methylprednisolone or Prednisolone, Daclizumab, Mycophenolate mofetil; Biological · Other · Procedure + 1 more
Lead sponsor: Sumitomo Pharma Switzerland GmbH; Industry
Eligibility: Not listed
Enrollment: 14 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2017
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Down Syndrome, Depression
Interventions: Fluoxetine; Drug
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 18 Years to 45 Years
Enrollment: 4 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2024
U.S. locations: 1
States / cities: Lexington, Massachusetts

Conditions: Aneuploidy, Down Syndrome, Noninvasive Prenatal Screening
Interventions: SEQureDx Trisomy Test; Device
Lead sponsor: Sequenom, Inc.; Industry
Eligibility: 18 Years to 34 Years · Female only
Enrollment: 3,333 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2015
U.S. locations: 27
States / cities: Mobile, Alabama • Chandler, Arizona • Phoenix, Arizona + 22 more

Conditions: Adult Acute Myeloid Leukemia in Remission, Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q), Adult Acute Myeloid Leukemia With Inv(16)(p13;q22), Adult Acute Myeloid Leukemia With t(15;17)(q22;q12), Adult Acute Myeloid Leukemia With t(16;16)(p13;q22), Adult Acute Myeloid Leukemia With t(8;21)(q22;q22), Childhood Acute Myeloid Leukemia in Remission, Childhood Myelodysplastic Syndromes, de Novo Myelodysplastic Syndromes, Essential Thrombocythemia, Myelodysplastic Syndrome With Isolated Del(5q), Polycythemia Vera, Previously Treated Myelodysplastic Syndromes, Primary Myelofibrosis, Recurrent Adult Acute Myeloid Leukemia, Recurrent Childhood Acute Myeloid Leukemia, Secondary Acute Myeloid Leukemia, Secondary Myelodysplastic Syndromes, Secondary Myelofibrosis, Untreated Adult Acute Myeloid Leukemia, Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies
Interventions: cyclophosphamide, busulfan, tacrolimus, methotrexate, cytogenetic analysis, flow cytometry, pharmacological study, pharmacogenomic studies, peripheral blood stem cell transplantation, allogeneic hematopoietic stem cell transplantation; Drug · Genetic · Other + 1 more
Lead sponsor: Fred Hutchinson Cancer Center; Other
Eligibility: Up to 65 Years
Enrollment: 52 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2013
U.S. locations: 1
States / cities: Seattle, Washington

Conditions: Williams Syndrome
Interventions: Response Inhibition Training; Behavioral
Lead sponsor: University of Wisconsin, Milwaukee; Other
Eligibility: 10 Years to 17 Years
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2016
U.S. locations: 1
States / cities: Milwaukee, Wisconsin

Conditions: Klinefelter Syndrome, XXY Syndrome
Interventions: Testosterone gel 1%, Placebo gel; Drug
Lead sponsor: University of Colorado, Denver; Other
Eligibility: 8 Years to 18 Years · Male only
Enrollment: 48 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2017
U.S. locations: 1
States / cities: Aurora, Colorado

Conditions: Fragile X Syndrome
Interventions: Placebo (for RO4917523 ascending doses), Placebo (for RO4917523 fixed dose), RO4917523; Drug
Lead sponsor: Hoffmann-La Roche; Industry
Eligibility: 18 Years to 50 Years
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2011
U.S. locations: 5
States / cities: Sacramento, California • Decatur, Georgia • Chicago, Illinois + 2 more

Conditions: Sarcoma, Kaposi, Lymphoma, Non-Hodgkin, HIV Infections, Lymphoma, AIDS-Related
Interventions: Not listed
Lead sponsor: National Institute of Allergy and Infectious Diseases (NIAID); NIH
Eligibility: 18 Years and older
Enrollment: 5,000 participants
Healthy volunteers: Healthy volunteers not accepted
U.S. locations: 23
States / cities: Menlo Park, California • San Francisco, California • San Rafael, California + 15 more

Conditions: ALD (Adrenoleukodystrophy), Adrenoleukodystrophy, Cerebral Adrenoleukodystrophy
Interventions: Medical Record Abstraction, Biospecimen Sample Collection; Other
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: Not listed
Enrollment: 1,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2030
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Down Syndrome, Amyloid Beta-protein
Interventions: Florbetaben (BAY94-9172); Drug
Lead sponsor: Lantheus Biosciences Ltd.; Industry
Eligibility: 21 Years and older
Enrollment: 109 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2009 – 2011
U.S. locations: 2
States / cities: Sun City, Arizona • New Haven, Connecticut

Conditions: Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome, Developmental Delay
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 1 Year to 99 Years
Enrollment: 96 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2025
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Turner Syndrome, Hypogonadism, Premature Ovarian Failure
Interventions: 17 beta estradiol; Drug
Lead sponsor: Nemours Children's Clinic; Other
Eligibility: 10 Years to 16 Years · Female only
Enrollment: 16 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2001 – 2004
U.S. locations: 1
States / cities: Jacksonville, Florida

Conditions: Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
Interventions: Not listed
Lead sponsor: National Heart, Lung, and Blood Institute (NHLBI); NIH
Eligibility: 1 Day to 85 Years
Enrollment: 305 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2025
U.S. locations: 3
States / cities: Bethesda, Maryland • St Louis, Missouri • Columbus, Ohio

Conditions: Turner Syndrome, Ovarian Failure, Premature, Sex Chromosome Aberrations, Menopause, Perimenopause
Interventions: Not listed
Lead sponsor: National Eye Institute (NEI); NIH
Eligibility: 18 Years and older · Female only
Enrollment: 72 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2007 – 2014
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Klinefelter Syndrome, 47,XXY, Sex Chromosome Aneuploidy, XXY Syndrome
Interventions: No intervention; Other
Lead sponsor: University of Colorado, Denver; Other
Eligibility: 12 Years to 17 Years · Male only
Enrollment: 31 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2017
U.S. locations: 1
States / cities: Aurora, Colorado

Conditions: Down Syndrome, Alzheimer Disease
Interventions: Vitamin E, multivitamin, Placebo; Drug
Lead sponsor: New York State Institute for Basic Research; Government
Eligibility: 50 Years and older
Enrollment: 350 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2002 – 2012
U.S. locations: 14
States / cities: Farmington, Connecticut • Tampa, Florida • Atlanta, Georgia + 10 more

Conditions: All Diagnosed Health Conditions, ADD/ADHD, Alopecia Areata, Ankylosing Spondylitis, Asthma, Atopic Dermatitis Eczema, Beta Thalassemia, Bipolar Disorder, Breast Cancer, Celiac Disease, Cervical Cancer, Chronic Inflammatory Demyelinating Polyneuropathy, Chronic Kidney Diseases, Chronic Obstructive Pulmonary Disease, Colon Cancer, Colorectal Cancer, Crohn's Disease, Cystic Fibrosis, Depression, Diabetes Mellitus, Duchenne Muscular Dystrophy, Endometriosis, Epilepsy, Facioscapulohumeral Muscular Dystrophy, G6PD Deficiency, General Anxiety Disorder, Hepatitis B, Hereditary Hemorrhagic Telangiectasia, HIV/AIDS, Human Papilloma Virus, Huntington's Disease, Idiopathic Thrombocytopenic Purpura, Insomnia, Kidney Cancer, Leukemia, Lung Cancer, Lupus Nephritis, Lymphoma, Melanoma, Multiple Myeloma, Multiple Sclerosis, Myositis, Myotonic Dystrophy, Ovarian Cancer, Pancreatic Cancer, Parkinson's Disease, Polycystic Kidney Diseases, Prostate Cancer, Psoriasis, Psoriatic Arthritis, Rosacea, Scleroderma, Sickle Cell Anemia, Sickle Cell Trait, Sjogren's Syndrome, Skin Cancer, Spinal Muscular Atrophy, Systemic Lupus Erythematosus, Thrombotic Thrombocytopenic Purpura, Trisomy 21, Ulcerative Colitis
Interventions: Not listed
Lead sponsor: Sanguine Biosciences; Industry
Eligibility: 18 Years to 100 Years
Enrollment: 17,667 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2013 – 2024
U.S. locations: 1
States / cities: Los Angeles, California

Conditions: Angelman Syndrome
Interventions: GTX-102; Drug
Lead sponsor: Ultragenyx Pharmaceutical Inc; Industry
Eligibility: Not listed
Enrollment: 255 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2029
U.S. locations: 6
States / cities: Los Angeles, California • San Diego, California • Atlanta, Georgia + 3 more

Conditions: Adult Kidney Wilms Tumor, Beckwith-Wiedemann Syndrome, Childhood Kidney Wilms Tumor, Diffuse Hyperplastic Perilobar Nephroblastomatosis, Rhabdoid Tumor of the Kidney, Stage I Kidney Wilms Tumor, Stage II Kidney Wilms Tumor, Stage III Kidney Wilms Tumor, Stage IV Kidney Wilms Tumor, Stage V Kidney Wilms Tumor
Interventions: Dactinomycin, Doxorubicin Hydrochloride, Radiation Therapy, Therapeutic Conventional Surgery, Vincristine Sulfate; Biological · Drug · Radiation + 1 more
Lead sponsor: Children's Oncology Group; Network
Eligibility: Up to 29 Years
Enrollment: 249 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2026
U.S. locations: 146
States / cities: Birmingham, Alabama • Phoenix, Arizona • Tucson, Arizona + 111 more

Conditions: Fragile X Syndrome
Interventions: BPN14770/ zatolmilast, Placebo; Drug
Lead sponsor: Tetra Discovery Partners; Industry
Eligibility: 18 Years to 45 Years · Male only
Enrollment: 171 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2025
U.S. locations: 17
States / cities: Irvine, California • Orange, California • Sacramento, California + 14 more

Conditions: Angelman Syndrome
Interventions: GTX-102, Sham-LP; Drug · Procedure
Lead sponsor: Ultragenyx Pharmaceutical Inc; Industry
Eligibility: 4 Years to 17 Years
Enrollment: 129 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2027
U.S. locations: 14
States / cities: Los Angeles, California • San Diego, California • San Francisco, California + 11 more

Conditions: Cardiovascular Phenotype, Metabolic Phenotype, Hypertensive Disease, Psychological Phenotype, Audio
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 18 Years to 99 Years · Female only
Healthy volunteers: Accepts healthy volunteers
Timeline: 2025
U.S. locations: 1
States / cities: Bethesda, Maryland

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A Study of GLWL-01 in Patients With Prader-Willi Syndrome

Adaptation Among Adolescents and Adults With Klinefelter Syndrome

Phase I/II Thymus Transplantation With Immunosuppression #950

Fluoxetine Treatment of Depression in Down Syndrome

Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies

Cyclophosphamide and Busulfan Followed by Donor Stem Cell Transplant in Treating Patients With Myelofibrosis, Acute Myeloid Leukemia, or Myelodysplastic Syndrome

Response Inhibition Training for Children With Williams Syndrome

Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome

A Study With RO4917523 in Patients With Fragile X Syndrome

A Study of Patients With AIDS Syndrome

Adrenoleukodystrophy National Registry Study

Phase II Study of Florbetaben (BAY94-9172) PET Imaging for Detection/Exclusion of Cerebral β-amyloid.

Pediatric Patients With Metabolic or Other Genetic Disorders

Estrogen Treatment (Oral vs. Patches) in Turner Syndrome

Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank

Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure

Cardiometabolic Profiles of Boys With Klinefelter Syndrome

Vitamin E in Aging Persons With Down Syndrome

At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions

Long-term Extension of GTX-102 in Angelman Syndrome

Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor

A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome

Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS)

Implications of Maternal 45,X Mosaicism as a Secondary Genomic Finding Following Cell-Free DNA Sequencing During Pregnancy: A Deep Phenotype Study