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Conditions: Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Turner Syndrome
Interventions: Not listed
Lead sponsor: Sequenom, Inc.; Industry
Eligibility: 18 Years and older · Female only
Enrollment: 1,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2009
U.S. locations: 7
States / cities: La Jolla, California • San Diego, California • San Jose, California + 4 more

Conditions: Fragile X Syndrome
Interventions: STX107; Drug
Lead sponsor: Seaside Therapeutics, Inc.; Industry
Eligibility: 18 Years to 50 Years · Male only
Enrollment: 16 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2013
U.S. locations: 5
States / cities: Los Angeles, California • Sacramento, California • Aurora, Colorado + 2 more

Conditions: Turner Syndrome, Primary Ovarian Insufficiency (Poi)
Interventions: Micronized progesterone 200 MG, Micronized Progesterone 100 MG; Drug
Lead sponsor: Children's Mercy Hospital Kansas City; Other
Eligibility: 12 Years to 20 Years · Female only
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 1
States / cities: Kansas City, Missouri

Conditions: Fragile X Syndrome
Interventions: AFQ056, Placebo; Drug
Lead sponsor: Novartis Pharmaceuticals; Industry
Eligibility: 12 Years to 17 Years
Enrollment: 139 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2014
U.S. locations: 8
States / cities: Sacramento, California • Decatur, Georgia • Chicago, Illinois + 5 more

Conditions: Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis, Hamartoma Syndrome, Multiple, Fragile X Syndrome, Angelman Syndrome, Rett Syndrome, Chromosome 15Q, Partial Deletion, Creatine Deficiency, X-linked
Interventions: Functional Behavioral Training (FBT), Positive Parenting Strategies-Treatment as Usual; Behavioral · Other
Lead sponsor: Rush University Medical Center; Other
Eligibility: 2 Years to 12 Years
Enrollment: 79 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2027
U.S. locations: 1
States / cities: Chicago, Illinois

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: 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: Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
Interventions: Not listed
Lead sponsor: Sequenom, Inc.; Industry
Eligibility: 18 Years and older · Female only
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2015
U.S. locations: 1
States / cities: Denver, Colorado

Conditions: Gonadal Dysgenesis, Turner's Syndrome
Interventions: cognitive tests and scales; Behavioral
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: Not listed
Enrollment: 950 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 1990 – 2004
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Turner's Syndrome
Interventions: growth hormone, oxandrolone; Drug
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: 10 Years to 14 Years · Female only
Enrollment: 80 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1999
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Fragile X Syndrome
Interventions: Gaboxadol, Placebo; Drug
Lead sponsor: Craig Erickson; Other
Eligibility: 18 Years to 40 Years · Male only
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2025
U.S. locations: 1
States / cities: Cincinnati, Ohio

Conditions: Gonadal Dysgenesis, Turner's Syndrome
Interventions: Growth Hormone (Humatrope); Drug
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: Female only
Enrollment: 160 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1987 – 2003
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Fragile X Syndrome (FXS)
Interventions: 18F-FTC-146; Drug
Lead sponsor: Guido A. Davidzon, MD, SM; Other
Eligibility: 18 Years to 65 Years
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021 – 2022
U.S. locations: 1
States / cities: Stanford, California

Conditions: Intellectual Disability, Fragile X Syndrome, Down Syndrome, Attention Deficit Hyperactivity Disorder
Interventions: Methylphenidate Oral Solution; Drug
Lead sponsor: University of California, Davis; Other
Eligibility: 6 Years to 24 Years
Enrollment: 68 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2026
U.S. locations: 3
States / cities: Sacramento, California • Chicago, Illinois • Cincinnati, Ohio

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: Turner Syndrome
Interventions: No intervention; Other
Lead sponsor: University of Colorado, Denver; Other
Eligibility: Female only
Enrollment: 5,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2025
U.S. locations: 10
States / cities: Aurora, Colorado • Washington D.C., District of Columbia • Glenview, Illinois + 7 more

Conditions: Fragile X Syndrome
Interventions: MG01CI extended-release tablet; Drug
Lead sponsor: Alcobra Ltd.; Industry
Eligibility: 15 Years to 55 Years
Enrollment: 62 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2015
U.S. locations: 11
States / cities: Phoenix, Arizona • Sacramento, California • Aurora, Colorado + 8 more

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: Prader-Willi Syndrome, Hypothalamic Obesity, Obesity/Therapy
Interventions: Tirzepatide; Drug
Lead sponsor: Grace Kim; Other
Eligibility: 18 Years to 26 Years
Enrollment: 36 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2026
U.S. locations: 3
States / cities: Saint Paul, Minnesota • Nashville, Tennessee • Seattle, Washington

Conditions: Cystic Fibrosis, Immunologic Deficiency Syndrome, Turner Syndrome, Congenital Hepatic Fibrosis, Idiopathic Non-Cirrhotic Portal Hypertension
Interventions: Not listed
Lead sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); NIH
Eligibility: 12 Years to 100 Years
Enrollment: 400 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2029
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities, Mental Retardation
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 2 Years to 99 Years
Enrollment: 197 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2008 – 2015
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Pregnancy, Down Syndrome, Edwards Syndrome, Patau Syndrome, Turners Syndrome
Interventions: Not listed
Lead sponsor: Verinata Health, Inc.; Industry
Eligibility: 18 Years and older · Female only
Enrollment: 3,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2012
U.S. locations: 26
States / cities: San Diego, California • Atlanta, Georgia • Chicago, Illinois + 22 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: Turner Syndrome
Interventions: Humatrope; Drug
Lead sponsor: Eli Lilly and Company; Industry
Eligibility: 4 Years to 20 Years · Female only
Enrollment: 69 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2015
U.S. locations: 9
States / cities: Los Angeles, California • Aurora, Colorado • Hartford, Connecticut + 6 more

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Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker

A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X Syndrome

Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome

Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome

Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)

Acamprosate in Youth With Fragile X Syndrome

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

Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies

The Effects of Estrogen on Cognition in Girls With Turner Syndrome

Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome

Placebo-Controlled, Single-Dose Challenge Study of Gaboxadol in Adult Males With Fragile X Syndrome (FXS)

Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome

Novel Clinical Target in Fragile X Syndrome

Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities

Cardiometabolic Profiles of Boys With Klinefelter Syndrome

Inspiring New Science In Guiding Healthcare in Turner Syndrome Registry

A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

Tirzepatide in PWS, HO and GNSO

Natural History of Noncirrhotic Portal Hypertension

Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions

Comparison of Aneuploidy Risk Evaluations

Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome