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Conditions: Prader-Willi Syndrome, Obesity, Hyperphagia
Interventions: Setmelanotide; Drug
Lead sponsor: Rhythm Pharmaceuticals, Inc.; Industry
Eligibility: 6 Years to 65 Years
Enrollment: 18 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2027
U.S. locations: 1
States / cities: Gainesville, Florida

Conditions: Prader-Willi Syndrome
Interventions: Placebo, Tesomet; Other · Drug
Lead sponsor: Saniona; Industry
Eligibility: 13 Years to 65 Years
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2022
U.S. locations: 1
States / cities: Lansing, Michigan

Conditions: Down Syndrome
Interventions: Submaximal exercise protocol; Other
Lead sponsor: University of Nevada, Las Vegas; Other
Eligibility: 18 Years to 35 Years
Enrollment: 28 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2023 – 2024
U.S. locations: 1
States / cities: Las Vegas, Nevada

Conditions: Fragile X Syndrome, Autism Spectrum Disorders
Interventions: Acamprosate; Drug
Lead sponsor: Indiana University; Other
Eligibility: 5 Years to 17 Years
Enrollment: 14 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2011
U.S. locations: 1
States / cities: Indianapolis, Indiana

Conditions: Lung Cancer
Interventions: Biopsy of the major carinal area, Biopsy of abnormal & suspicious areas of the bronchial tree, Evaluation of the tumor for DNA mutations, Bronchoalveolar Lavage (BAL) for cytokine analysis, Correlation of flow cytometric & RT PCR for TNM stage, Analysis of lymph nodes; Procedure
Lead sponsor: University of Pittsburgh; Other
Eligibility: 18 Years and older
Enrollment: 6,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1996 – 2050
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Down Syndrome, Subclinical Hypothyroidism
Interventions: Levothyroxine; Drug
Lead sponsor: Children's Hospital of Philadelphia; Other
Eligibility: 8 Years to 20 Years
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2017
U.S. locations: 2
States / cities: Washington D.C., District of Columbia • Philadelphia, Pennsylvania

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: Down Syndrome (DS), Keratoconus, Pellucid Marginal Degeneration, Forme Fruste Keratoconus (FFK)
Interventions: Epi-ON corneal cross-linking (CXL); Combination Product
Lead sponsor: Woolfson Eye Institute; Other
Eligibility: 8 Years and older
Enrollment: 225 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 12
States / cities: Atlanta, Georgia • Canton, Georgia • Cumming, Georgia + 8 more

Conditions: Turner Syndrome
Interventions: Lonapegsomatropin, Somatropin; Biological · Drug
Lead sponsor: Ascendis Pharma Endocrinology Division A/S; Industry
Eligibility: 1 Year to 10 Years · Female only
Enrollment: 48 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2027
U.S. locations: 19
States / cities: Palo Alto, California • San Diego, California • Aurora, Colorado + 16 more

Conditions: Aneuploidy, Trisomy 21, Trisomy 18, Trisomy 13, Down Syndrome
Interventions: Not listed
Lead sponsor: Cindy Cisneros; Industry
Eligibility: 18 Years to 60 Years · Female only
Enrollment: 2,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2014 – 2019
U.S. locations: 3
States / cities: San Diego, California • Oaks, Pennsylvania • Chattanooga, Tennessee

Conditions: Down Syndrome, Speech and Language Disorder, Speech Disorders in Children, Speech Intelligibility, Speech Sound Disorder
Interventions: AAC Generative Language Intervention, Standard of Care / Business as Usual; Behavioral
Lead sponsor: University of Central Florida; Other
Eligibility: 3 Years to 4 Years
Enrollment: 70 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2018 – 2023
U.S. locations: 2
States / cities: Orlando, Florida • Albuquerque, New Mexico

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: Down Syndrome
Interventions: Not listed
Lead sponsor: Hoffmann-La Roche; Industry
Eligibility: 12 Years to 30 Years
Enrollment: 135 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2015
U.S. locations: 9
States / cities: La Jolla, California • Decatur, Georgia • Chicago, Illinois + 6 more

Conditions: Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections, Autoimmunity
Interventions: Phlebotomy; Other
Lead sponsor: University of Colorado, Denver; Other
Eligibility: Up to 22 Years
Enrollment: 45 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015 – 2018
U.S. locations: 1
States / cities: Denver, Colorado

Conditions: Down Syndrome
Interventions: Placebo, RO5186582; Drug
Lead sponsor: Hoffmann-La Roche; Industry
Eligibility: 6 Years to 11 Years
Enrollment: 45 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2016
U.S. locations: 9
States / cities: Phoenix, Arizona • Decatur, Georgia • Chicago, Illinois + 5 more

Conditions: Leukemia, Acute Myeloid Leukemia, AML
Interventions: Selinexor, Daunorubicin, Cytarabine; Drug
Lead sponsor: H. Lee Moffitt Cancer Center and Research Institute; Other
Eligibility: 18 Years and older
Enrollment: 21 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2021
U.S. locations: 1
States / cities: Tampa, Florida

Conditions: Down Syndrome
Interventions: Donepezil HCl, Placebo; Drug
Lead sponsor: Eisai Inc.; Industry
Eligibility: 10 Years to 17 Years
Enrollment: 129 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2008
U.S. locations: 31
States / cities: Phoenix, Arizona • Little Rock, Arkansas • Los Angeles, California + 25 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: Acute Myeloid Leukemia (AML)
Interventions: Panobinostat; Drug
Lead sponsor: Novartis Pharmaceuticals; Industry
Eligibility: 18 Years to 65 Years
Enrollment: 46 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2014
U.S. locations: 5
States / cities: Stanford, California • Boston, Massachusetts • Columbus, Ohio + 2 more

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

Conditions: Prader-Willi Syndrome, Hyperphagia
Interventions: Livoletide, Placebo; Drug
Lead sponsor: Millendo Therapeutics SAS; Industry
Eligibility: 4 Years to 65 Years
Enrollment: 158 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2020
U.S. locations: 15
States / cities: Birmingham, Alabama • Orange, California • San Diego, California + 12 more

Conditions: Obesity, Over-weight, Prader-Willi Syndrome
Interventions: ZGN-440 sterile diluent, 1.2 mg ZGN-440 for injectable suspension, 1.8 mg ZGN-440 for injectable suspension; Drug
Lead sponsor: Zafgen, Inc.; Industry
Eligibility: 16 Years to 65 Years
Enrollment: 17 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013
U.S. locations: 1
States / cities: Gainesville, Florida

Conditions: Chromosome Aberrations, Growth Hormone Deficiency, Hypomyelination
Interventions: Determination of growth hormone status, Measurement of growth, thyroid and sex hormone levels, Behavior and neuropsychometric evaluations, Audiological and ear, nose and throat examination, Magnetic resonance imaging of the brain, Dysmorphology evaluation, Neurology examination, Dental evaluation, Speech pathology evaluation, Psychiatric evaluation, Orthopedic evaluation, Ophthalmologic evaluation, Gastrointestinal evaluation; Procedure
Lead sponsor: The University of Texas Health Science Center at San Antonio; Other
Eligibility: Not listed
Enrollment: 4,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 1993 – 2040
U.S. locations: 2
States / cities: San Antonio, Texas

Conditions: Down Syndrome, Health, Subjective
Interventions: Observational, no intervention; Other
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 18 Years and older
Enrollment: 758 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2025
U.S. locations: 1
States / cities: Boston, Massachusetts

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A Study of Setmelanotide in Patients With Prader-Willi Syndrome

Study of Tesomet With Open-label Extension in Subjects With Prader-Willi Syndrome

Oxygen Uptake Kinetics During Submaximal Exercise in Adults With Down Syndrome

Acamprosate in Youth With Fragile X Syndrome

Detection of Genetic Markers of Lung Cancer

Treatment Trial of Subclinical Hypothyroidism in Down Syndrome

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

Compassionate Use Study of Epi-ON Corneal Collagen Crosslinking Performed Using UVA Exposure on Eyes With Ectatic Corneal Diseases for Subjects With Down Syndrome

A Trial to Investigate Different Doses of Lonapegsomatropin Compared to Somatropin in Individuals With Turner Syndrome

Non-Invasive Chromosomal Evaluation of Trisomy Study

Building Sentences With Preschoolers Who Use AAC

Genetic Modifiers for 22q11.2 Syndrome

A Screening Protocol to Assess Adults and Adolescents With Down Syndrome for Eligibility For Upcoming Study of RG1662 (Study BP27832)

Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome

A Study of RO5186582 in Down Syndrome Among Children 6 to 11 Years of Age

A Study of Selinexor in Combination With Daunorubicin and Cytarabine for Untreated AML

Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (HCl) (Aricept) In Treating Cognitive Dysfunction Exhibited By Children With Down Syndrome

Parathyroid and Thymus Transplantation in DiGeorge #931

Safety & Efficacy Study of Oral Panobinostat (LBH589) With Chemotherapy in Patients < 65 Years Old With Acute Myeloid Leukemia (AML)

Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Effects of Livoletide (AZP-531) on Food-related Behaviors in Patients With Prader-Willi Syndrome

An Efficacy, Safety, and Pharmacokinetics Study of Beloranib in Obese Subjects With Prader-Willi Syndrome

Chromosome 18 Clinical Research Center

Developing a Down Syndrome Health Instrument