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Conditions: Hunter Syndrome
Interventions: Neurobehavioral testing, Visual and auditory assessments; Behavioral · Other
Lead sponsor: Shire; Industry
Eligibility: 32 Months to 18 Years · Male only
Enrollment: 33 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2011
U.S. locations: 1
States / cities: Chapel Hill, North Carolina

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: 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: Adrenoleukodystrophy
Interventions: MIN-102, Placebos; Drug
Lead sponsor: Minoryx Therapeutics, S.L.; Industry
Eligibility: 18 Years to 65 Years · Male only
Enrollment: 105 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2025
U.S. locations: 3
States / cities: Stanford, California • Baltimore, Maryland • Boston, Massachusetts

Conditions: Adrenoleukodystrophy
Interventions: glyceryl trierucate/glyceryl trioleate; Drug
Lead sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.; Other
Eligibility: 18 Months to 8 Years · Male only
Enrollment: 126 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1998 – 2014
U.S. locations: 2
States / cities: Baltimore, Maryland

Conditions: Mucopolysaccharidosis II
Interventions: Genetic HMI-203; Biological
Lead sponsor: Homology Medicines, Inc; Industry
Eligibility: 18 Years to 45 Years · Male only
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2029
U.S. locations: 5
States / cities: Oakland, California • New Haven, Connecticut • Hackensack, New Jersey + 2 more

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: 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: Hunter Syndrome
Interventions: Idursulfase-IT; Drug
Lead sponsor: Takeda; Industry
Eligibility: Male only
Healthy volunteers: Healthy volunteers not accepted
U.S. locations: 17
States / cities: Phoenix, Arizona • Oakland, California • Wilmington, Delaware + 14 more

Conditions: DDX3X, Mental Retardation, X-linked 102, Autism Spectrum Disorder
Interventions: Not listed
Lead sponsor: Icahn School of Medicine at Mount Sinai; Other
Eligibility: 2 Years and older
Enrollment: 15 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2020
U.S. locations: 1
States / cities: New York, New York

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: Intellectual Disability, Developmental Disability, Axis I Diagnosis, Mental Illness, Covid19, Coronavirus
Interventions: Generic Best Practices, Tailored Best Practices; Behavioral
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 18 Years and older
Enrollment: 415 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2020 – 2022
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Behavioral Manifestations of Lesch-Nyhan Disease
Interventions: sapropterin; Drug
Lead sponsor: University of California, San Diego; Other
Eligibility: 4 Years and older
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2010
U.S. locations: 1
States / cities: San Diego, California

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: 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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Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®

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

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)

A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients.

Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy

Safety and Efficacy of HMI-203 in ERT-Treated Adults With MPS II

Phenotypic Specific Communication Intervention for Children With Down 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

Post-trial Access Program of Idursulfase-IT Along With Elaprase in Children With Hunter Syndrome

DDX3X Syndrome -The Seaver Autism Center for Research and Treatment is Characterizing DDX3X-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.

Biomarker and DNA Collection in Subjects Participating in Protocol 22003

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

Best Practices to Prevent COVID-19 Illness in Staff and People With Serious Mental Illness and Developmental Disabilities in Congregate Living Settings

Trial of Kuvan in Lesch-Nyhan Disease

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