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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: RAI1 Gene 17P11.2 Deletion+Duplication
Interventions: Electroencephalography/Polysomnography (EEG/PSG), Skin Biopsy, Blood draw; Diagnostic Test · Procedure
Lead sponsor: Baylor College of Medicine; Other
Eligibility: 1 Month to 80 Years
Enrollment: 90 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2024 – 2027
U.S. locations: 1
States / cities: Houston, Texas

Conditions: Down Syndrome, Cognitive Dysfunction
Interventions: Aricept (donepezil hydrochloride), Placebo; Drug
Lead sponsor: Eisai Inc.; Industry
Eligibility: 11 Years to 17 Years
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008
U.S. locations: 2
States / cities: San Antonio, Texas • Herndon, Virginia

Conditions: Fragile X Syndrome
Interventions: Placebo, RO4917523 0.5 mg, RO4917523 1.5 mg; Drug
Lead sponsor: Hoffmann-La Roche; Industry
Eligibility: 14 Years to 50 Years
Enrollment: 185 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2014
U.S. locations: 20
States / cities: Phoenix, Arizona • Long Beach, California • Sacramento, California + 17 more

Conditions: Amyloid Plaque, Beta-Amyloid, DSAD, Prodromal Alzheimer's Disease, Alzheimer's Disease
Interventions: Placebo (Study Part 1a), ACI-24.060 at Dose A in Study Part 1a, ACI-24.060 at Dose B in Study Part 1a, ACI-24.060 at Dose C in Study Part 1a, ACI-24.060 with an additional adjuvant at Dose D in Study Part 1b, Placebo (Study Part 2), ACI-24.060 at Dose A in Study Part 2, ACI-24.060 at Dose B in Study Part 2, ACI-24.060 at Dose C in Study Part 2, Placebo (Study Part 1b), ACI-24.060 with an additional adjuvant at Dose E in Study Part 1b; Biological
Lead sponsor: AC Immune SA; Industry
Eligibility: 35 Years to 85 Years
Enrollment: 304 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2029
U.S. locations: 13
States / cities: Phoenix, Arizona • Lady Lake, Florida • Orlando, Florida + 9 more

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: Language Impairment, Down Syndrome
Interventions: Jasper-EMT with words and AAC; Behavioral
Lead sponsor: Vanderbilt University; Other
Eligibility: 30 Months to 54 Months
Enrollment: 78 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2014 – 2018
U.S. locations: 2
States / cities: Los Angeles, California • Nashville, Tennessee

Conditions: Angelman Syndrome
Interventions: Nutritional Formulation Containing Exogenous Ketones, Placebo Formulation; Dietary Supplement
Lead sponsor: University of Colorado, Denver; Other
Eligibility: 4 Years to 11 Years
Enrollment: 15 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2020
U.S. locations: 1
States / cities: Aurora, Colorado

Conditions: Down Syndrome, Adaptive Behavior, Quality of Life
Interventions: The MapHabit System; Device
Lead sponsor: MapHabit, Inc.; Industry
Eligibility: 7 Years to 17 Years
Enrollment: 26 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2021
U.S. locations: 1
States / cities: Atlanta, Georgia

Conditions: Fragile X Syndrome
Interventions: donepezil, sugar pill; Drug
Lead sponsor: Stanford University; Other
Eligibility: 12 Years to 29 Years
Enrollment: 45 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2013
U.S. locations: 1
States / cities: Stanford, California

Conditions: Down Syndrome
Interventions: Near-Infrared Transcranial Photobiomodulation, Sham Transcranial Photobiomodulation; Device
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 16 Years to 35 Years
Enrollment: 19 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2024
U.S. locations: 1
States / cities: Charlestown, Massachusetts

Conditions: Prader-Willi Syndrome, Obesity
Interventions: NBT-NM108; Drug
Lead sponsor: Rutgers, The State University of New Jersey; Other
Eligibility: 18 Years to 35 Years
Enrollment: 12 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2023
U.S. locations: 1
States / cities: New Brunswick, New Jersey

Conditions: Down Syndrome
Interventions: Parent Supported Behavioral Intervention, Nutrition/Activity Education (NAE); Behavioral
Lead sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); NIH
Eligibility: 13 Years to 26 Years
Enrollment: 21 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2006 – 2010
U.S. locations: 1
States / cities: Waltham, Massachusetts

Conditions: Neurodevelopmental Disorders, Autism Spectrum Disorder, Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection, Pediatric Acute-Onset Neuropsychiatric Syndrome, Down Syndrome, Epilepsy, Mitochondrial Encephalomyopathies, Cerebral Folate Deficiency
Interventions: Not listed
Lead sponsor: Richard Frye; Other
Eligibility: Not listed
Enrollment: 1,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2030
U.S. locations: 1
States / cities: Phoenix, Arizona

Conditions: Down Syndrome
Interventions: Enhanced Milieu teaching; Behavioral
Lead sponsor: Oregon Health and Science University; Other
Eligibility: 18 Months to 36 Months
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2021
U.S. locations: 1
States / cities: Portland, Oregon

Conditions: Turner's Syndrome
Interventions: Norditropin, Menostar 14mcg patch, Vivelle dot 25mcg patch; Drug
Lead sponsor: University of Chicago; Other
Eligibility: 138 Months to 13 Years · Female only
Enrollment: 1 participant
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2011
U.S. locations: 3
States / cities: Chicago, Illinois • Baltimore, Maryland • Ann Arbor, Michigan

Conditions: Fragile X Syndrome
Interventions: STX209; Drug
Lead sponsor: Seaside Therapeutics, Inc.; Industry
Eligibility: 6 Years to 17 Years
Enrollment: 32 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2009
U.S. locations: 8
States / cities: Phoenix, Arizona • Los Angeles, California • New Haven, Connecticut + 5 more

Conditions: Fragile X Syndrome
Interventions: Arbaclofen; Drug
Lead sponsor: Seaside Therapeutics, Inc.; Industry
Eligibility: 6 Years to 40 Years
Enrollment: 45 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2012
U.S. locations: 9
States / cities: Los Angeles, California • Sacramento, California • Chicago, Illinois + 6 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: 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
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: Angelman Syndrome
Interventions: Levodopa, Placebo Oral Capsule; Drug
Lead sponsor: Wen-Hann Tan; Other
Eligibility: 4 Years to 12 Years
Enrollment: 67 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2015
U.S. locations: 7
States / cities: San Diego, California • San Francisco, California • Boston, Massachusetts + 4 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: Fragile X Syndrome
Interventions: AFQ056; Drug
Lead sponsor: Novartis Pharmaceuticals; Industry
Eligibility: 3 Years to 11 Years
Enrollment: 21 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2013
U.S. locations: 3
States / cities: Sacramento, California • Chicago, Illinois • Nashville, Tennessee

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

Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders

Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 11 To 17

A Study of RO4917523 in Patients With Fragile X Syndrome

A Study to Assess the Effects of ACI-24.060 in Alzheimer's Disease and in Down Syndrome (ABATE Study)

Cognitive Remediation in 22q11DS

Phenotypic Specific Communication Intervention for Children With Down Syndrome

Nutritional Formulation for Angelman Syndrome

Life Skills Improved in Children With Down Syndrome After Using Assistive Technology

Randomized Controlled Study of Donepezil in Fragile X Syndrome

Transcranial Photobiomodulation With Near-Infrared Light for Language in Individuals With Down Syndrome

Understanding the Role of Gut Microbiota in Hyperphagia in Prader-Willi Syndrome

Parent Supported Weight Reduction in Down Syndrome

Patterns of Neurodevelopmental Disorders

Delivering Early Intervention to Children With Down Syndrome

Initiating Transdermal Estradiol Therapy in Turner's Syndrome

Biomarker and DNA Collection in Subjects Participating in Protocol 22003

An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome

Thymus Transplantation With Immunosuppression

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

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

A Trial of Levodopa in Angelman Syndrome

A Study of Patients With AIDS Syndrome

Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS)