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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

Conditions: Epilepsy, Mental Retardation, Developmental Disabilities
Interventions: Not listed
Lead sponsor: Northwell Health; Other
Eligibility: 18 Years and older
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2002 – 2008
U.S. locations: 1
States / cities: New Hyde Park, New York

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: Dysarthria, Down Syndrome
Interventions: Speech sessions; Behavioral
Lead sponsor: Duke University; Other
Eligibility: 8 Years and older
Enrollment: 5 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2016
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines, Noonan Neurofibromatosis Syndrome, Cardiofaciocutaneous Syndrome, Costello Syndrome, Legius Syndrome, Smith-Kingsmore Syndrome, MTOR Gene Mutation, GATOR-1 Gene Mutation, SYNGAP1-Related Intellectual Disability, DLG4, MAPK1 Gene Mutation
Interventions: Not listed
Lead sponsor: Children's Hospital Medical Center, Cincinnati; Other
Eligibility: Not listed
Enrollment: 1,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2017 – 2065
U.S. locations: 1
States / cities: Cincinnati, Ohio

Conditions: Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
Interventions: Not listed
Lead sponsor: Baylor College of Medicine; Other
Eligibility: 1 Year to 18 Years
Enrollment: 804 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2011 – 2013
U.S. locations: 9
States / cities: Birmingham, Alabama • Irvine, California • San Diego, California + 6 more

Conditions: Autism Spectrum Disorder, Intellectual Disability
Interventions: Transcranial Magnetic Stimulation; Device
Lead sponsor: Boston Children's Hospital; Other
Eligibility: 6 Years to 65 Years
Enrollment: 164 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015 – 2020
U.S. locations: 2
States / cities: Boston, Massachusetts

Conditions: Abnormalities, Failure to Thrive, Mental Retardation, Microcephaly
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: Not listed
Enrollment: 263 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1996 – 2000
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Fragile X Syndrome (FXS)
Interventions: OV101 (gaboxadol); Drug
Lead sponsor: Healx AI; Industry
Eligibility: 13 Years to 22 Years · Male only
Enrollment: 36 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2020
U.S. locations: 6
States / cities: Sacramento, California • Aurora, Colorado • Chicago, Illinois + 3 more

Conditions: ADNP, Helsmoortel-Van Der Aa Syndrome, Autism Spectrum Disorder
Interventions: Not listed
Lead sponsor: Icahn School of Medicine at Mount Sinai; Other
Eligibility: 2 Years and older
Enrollment: 30 participants
Timeline: 2017 – 2027
U.S. locations: 1
States / cities: New York, New York

Conditions: Burden, Caregiver
Interventions: Yoga; Support Group; Behavioral
Lead sponsor: University of Kansas Medical Center; Other
Eligibility: 18 Years and older
Enrollment: 20 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2023 – 2024
U.S. locations: 1
States / cities: Kansas City, Kansas

Conditions: Autism Spectrum Disorder, Fra(X) Syndrome
Interventions: specimen collection; Other
Lead sponsor: Nova Mentis Life Science Corp; Industry
Eligibility: 6 Months to 21 Years
Enrollment: 300 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021 – 2023
U.S. locations: 1
States / cities: Fort Lauderdale, Florida

Conditions: Down Syndrome, Physical Inactivity
Interventions: Decreasing Alzheimer's Risk Through oNline Choreographed Exercise - Down Syndrome Program; Behavioral
Lead sponsor: University of Kansas Medical Center; Other
Eligibility: 18 Years to 64 Years
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2025
U.S. locations: 1
States / cities: Kansas City, Kansas

Conditions: Intellectual Disability, Developmental Delay
Interventions: FirstStepDX PLUS and NextStepDX PLUS Webinar, FirstStepDX PLUS and NextStepDX PLUS Test Results; Other
Lead sponsor: Qure Healthcare, LLC; Industry
Eligibility: Up to 99 Years
Enrollment: 217 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2014 – 2015
U.S. locations: 1
States / cities: San Rafael, California

Conditions: Prader-Willi Syndrome
Interventions: VYKAT XR; Drug
Lead sponsor: Soleno Therapeutics, Inc.; Industry
Eligibility: 4 Years and older
Enrollment: 200 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 24
States / cities: Phoenix, Arizona • Los Angeles, California • Sacramento, California + 21 more

Conditions: Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease, Sandhoffs Disease, Wolman Disease, I-Cell Disease, Sanfilippo Syndrome, GM1 Gangliosidosis
Interventions: Clofarabine, Total body Irradiation, Melphalan, Hematopoietic Stem Cell Transplantation, Alemtuzumab, mycophenylate mofetil, Cyclosporine A, Hydroxyurea; Drug · Procedure · Biological + 1 more
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: Up to 70 Years
Enrollment: 38 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2014
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Fragile X Syndrome, Healthy Volunteers
Interventions: [15-O]water; Drug
Lead sponsor: National Institute of Mental Health (NIMH); NIH
Eligibility: 18 Years to 24 Years · Male only
Enrollment: 147 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2020
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder), ACTL6B, ADNP, AHDC1, ANK2, ANKRD11, ARID1B, ASH1L, BCL11A, CHAMP1, CHD2, CHD8, CSNK2A1, CTBP1, CTNNB1 Gene Mutation, CUL3, DDX3X, DNMT3A, DSCAM, DYRK1A, FOXP1, GRIN2A, GRIN2B, HIVEP2-Related Intellectual Disability, HNRNPH2, KATNAL2, KDM5B, KDM6B, KMT2C Gene Mutation, KMT2E, KMT5B, MBD5, MED13L, PACS1, PPP2R5D-Related Intellectual Disability, PTCHD1, REST, SCN2A Encephalopathy, SETBP1 Gene Mutation, SETD5, SMARCA4 Gene Mutation, SMARCC2, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability, TBR1, ARHGEF9, HNRNPU, PPP3CA, PPP2R1A, SLC6A1, 2p16.3 Deletions, 5q35 Deletions, 5q35 Duplications, 7q11.23 Duplications, 15Q13.3 Deletion Syndrome, 16p11.2 Triplications, 16P12.2 Microdeletion, 16P13.11 Microdeletion Syndrome (Disorder), 17Q12 Microdeletion Syndrome (Disorder), 17Q12 Duplication Syndrome, 17Q21.31 Deletion Syndrome, 17q21.3 Duplications, ACTB, ADSL, AFF2, ALDH5A1, ANK3, ARX, ATRX Gene Mutation, AUTS2 Syndrome, BCKDK, BRSK2, CACNA1C, CAPRIN1, CASK, CASZ1, CHD3, CIC, CNOT3, CREBBP Gene Mutation, CSDE1, CTCF, DEAF1, DHCR7, DLG4, EBF3, EHMT1, EP300 Gene Mutation, GIGYF1, GRIN1, GRIN2D, IQSEC2-Related Syndromic Intellectual Disability, IRF2BPL, KANSL1, KCNB1, KDM3B, NEXMIF, KMT2A, MBOAT7, MEIS2, MYT1L, NAA15, NBEA, NCKAP1, NIPBL, NLGN2, NLGN3, NLGN4X, NR4A2, NRXN1, NRXN2, NSD1 Gene Mutation, PHF21A, PHF3, PHIP, PSMD12, RELN, RERE, RFX3, RIMS1, RORB, SCN1A, SETD2 Gene Mutation, SHANK2, SIN3A, SLC9A6, SON, SOX5, SPAST, SRCAP, TAOK1, TANC2, TCF20, TLK2, TRIO, TRIP12, UPF3B, USP9X, VPS13B, WAC, WDFY3, ZBTB20, ZNF292, ZNF462, 2Q37 Deletion Syndrome, 9q34 Duplications, 15q15 Deletions, 15Q24 Deletion, NR3C2, SYNCRIP, 2q37.3 Deletion, 6q16 Deletion, 15q11.2 BP1-BP2 Deletion, 16p13.3 Deletion, 17Q11.2 Microduplication Syndrome (Disorder), 17p13.3, Xq28 Duplication, CLCN4, CSNK2B, DYNC1H1, EIF3F, GNB1, MED13, MEF2C, RALGAPB, SCN1B, YY1, Xp11.22 Duplication, PACS2, MAOA, MAOB, HNRNPC, HNRNPD, HNRNPK, HNRNPR, HNRNPUL2, 5P Deletion Syndrome, TCF7L2 Gene Mutation, HECW2, PPM1D, RNU4-2, SNAP25, FOXP2, ITSN1
Interventions: Not listed
Lead sponsor: Simons Searchlight; Other
Eligibility: Not listed
Enrollment: 100,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2050
U.S. locations: 2
States / cities: Boston, Massachusetts • Lewisburg, Pennsylvania

Conditions: Down Syndrome
Interventions: Treadmill Training, Supramalleolar Orthoses; Behavioral · Device
Lead sponsor: University of Michigan; Other
Eligibility: 6 Months to 36 Months
Enrollment: 22 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2008
U.S. locations: 1
States / cities: Ann Arbor, Michigan

Conditions: Intellectual Disability, Mild to Moderate, Developmental Disability
Interventions: Ready to Ride - Standard Delivery, Ready to Ride - Peer Support Delivery; Behavioral
Lead sponsor: Temple University; Other
Eligibility: 18 Years to 27 Years
Enrollment: 325 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2030
U.S. locations: 3
States / cities: Gainesville, Florida • Minneapolis, Minnesota • Durham, New Hampshire

Conditions: Fragile x Syndrome
Interventions: Ganaxolone, Placebo; Drug
Lead sponsor: Marinus Pharmaceuticals; Industry
Eligibility: 6 Years to 17 Years
Enrollment: 59 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2016
U.S. locations: 1
States / cities: Sacramento, California

Conditions: Fragile X Syndrome, Autism Spectrum Disorder, Autistic Disorder, Asperger Syndrome
Interventions: Alpha Auditory Entrainment, Sham; Other
Lead sponsor: Children's Hospital Medical Center, Cincinnati; Other
Eligibility: 5 Years to 10 Years
Enrollment: 180 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2023 – 2028
U.S. locations: 1
States / cities: Cincinnati, Ohio

Conditions: Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies, Idiopathic Generalised Epilepsy, Familial Dementia, X-linked Mental Retardation
Interventions: Not listed
Lead sponsor: State University of New York - Upstate Medical University; Other
Eligibility: 6 Months and older
Enrollment: 176 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2005 – 2015
U.S. locations: 1
States / cities: Syracuse, New York

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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)

Open Label Study of Zonisamide in the Treatment of Epilepsy in Patients With Mental Retardation

A Study of Setmelanotide in Patients With Prader-Willi Syndrome

Intensive Dysarthria Sessions in Adults and Children With Down Syndrome

RASopathy Biorepository

Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW

TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders

Evaluation of Patients With Unresolved Chromosome Abnormalities

A Study of OV101 in Individuals With Fragile X Syndrome

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

Social Support and Stress Reduction for Caregivers of Young Adults With IDD

Establishing a Diagnostic and Therapeutic Index in Autism Spectrum Disorder (ASD) and Fragile X Syndrome

Decreasing Alzheimer's Risk Through oNline Choreographed Exercise - Down Syndrome

Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study

Observational Study of VYKAT™ XR in Patients With Prader-Willi Syndrome

HSCT for High Risk Inherited Inborn Errors

Protein Synthesis in the Brain of Patients With Fragile X Syndrome

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Treadmill Training and Orthotic Use in Infants With Down Syndrome

Comparing the Impact of Peer Support vs. Staff-Delivered Transportation Interventions for Young Adults With Intellectual and Developmental Disabilities.

Ganaxolone Treatment in Children With Fragile X Syndrome

Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders

Genetic Disease Gene Identification