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Conditions: Caregiver Burden
Interventions: Physical Activity Program, Waitlist for Physical Activity Program; Behavioral
Lead sponsor: University of Wisconsin, Madison; Other
Eligibility: 25 Years to 50 Years · Female only
Enrollment: 19 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2025 – 2026
U.S. locations: 1
States / cities: Madison, Wisconsin

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: Angelman Syndrome, Prader-Willi Syndrome
Interventions: Newborn Screening Assay; Diagnostic Test
Lead sponsor: University of Wisconsin, Madison; Other
Eligibility: Not listed
Enrollment: 11 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2023
U.S. locations: 1
States / cities: Madison, Wisconsin

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: Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities
Interventions: Not listed
Lead sponsor: Natera, Inc.; Industry
Eligibility: Not listed
Enrollment: 216 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2019
U.S. locations: 2
States / cities: San Carlos, California • Philadelphia, Pennsylvania

Conditions: Language Development Disorders, Down Syndrome, Child Language
Interventions: Semantic cues (perform action), syntactic cues (sentence frame), or combined semantic and syntactic cues; Behavioral
Lead sponsor: Vanderbilt University Medical Center; Other
Eligibility: 3 Years to 17 Years
Enrollment: 44 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2018 – 2021
U.S. locations: 1
States / cities: Nashville, Tennessee

Conditions: Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities, Microdeletion Syndromes
Interventions: Not listed
Lead sponsor: Natera, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 1,059 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2012 – 2020
U.S. locations: 7
States / cities: San Carlos, California • San Gabriel, California • Washington D.C., District of Columbia + 4 more

Conditions: Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome, Sly Syndrome, Alpha-Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Glycoprotein Metabolic Disorders, Sphingolipidoses, Recessive Leukodystrophies, Globoid Cell Leukodystrophy, Metachromatic Leukodystrophy, Niemann-Pick B, Niemann-Pick C Subtype 2, Sphingomyelin Deficiency, Peroxisomal Disorders, Adrenoleukodystrophy With Cerebral Involvement, Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease, Acyl-CoA Oxidase Deficiency, D-Bifunctional Enzyme Deficiency, Multifunctional Enzyme Deficiency, Alpha-methylacyl-CoA Racmase Deficiency, Mitochondrial Neurogastrointestingal Encephalopathy, Severe Osteopetrosis, Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation), Inherited Metabolic Disorders
Interventions: Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen, Osteopetrosis Haploidentical Only Preparative Regimen, cALD SR-A (Standard-Risk, Regimen A), cALD SR-B (Standard-Risk, Regimen B), cALD HR-D (High-Risk, Regimen C), cALD HR-D (High-Risk, Regimen D); Biological · Drug
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: Up to 55 Years
Enrollment: 149 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2029
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Autism, Intellectual Disabilities With Other Behavioral Symptoms, Intellectual Disability
Interventions: Regulating Together group therapy; Behavioral
Lead sponsor: Children's Mercy Hospital Kansas City; Other
Eligibility: 8 Years to 12 Years
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2027
U.S. locations: 1
States / cities: Kansas City, Missouri

Conditions: Literacy, Communication, Nonverbal
Interventions: ALLSTAR; Behavioral
Lead sponsor: Penn State University; Other
Eligibility: 5 Years to 12 Years
Enrollment: 60 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2031
U.S. locations: 1
States / cities: State College, Pennsylvania

Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of, IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11, APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency, HPRT1, OMIM *308000 Lesch-Nyhan Disease, XDH, OMIM *607633, Xanthinuria Type 1, SLC2A9, OMIM *606142 Hypouricemia, SLC22A12, OMIM *607096 Hypouricemia, PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease, PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity, AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia, ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35, ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency, PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency, ADA2, OMIM *607575,Sneddon Syndrome; VAIHS, CAD, *1140120, Developmental and Epileptic Encephalopathy, UPB1, OMIM *606673, Beta-ureidopropionase Deficiency, DPYS, OMIM *613326, Dihydropyrimidinase Deficiency, DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency, DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis), UMPS, OMIM *613891, Orotic Aciduria, NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency, UNG, OMIM *191525, Hyper-IgM Syndrome 5, AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2, Purine-Pyrimidine Metabolism, Metabolic Disease
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Month to 100 Years
Enrollment: 999 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2099
U.S. locations: 1
States / cities: Bethesda, Maryland

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: Rett Syndrome
Interventions: Not listed
Lead sponsor: Rett Syndrome Research Trust; Other
Eligibility: 18 Years and older
Enrollment: 272 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021 – 2022
U.S. locations: 1
States / cities: Durham, North Carolina

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: Covid19
Interventions: COVID-19 RT-PCR test, COVID-19 Vaccine Education Campaign; Diagnostic Test · Other
Lead sponsor: University of Rochester; Other
Eligibility: 3 Years to 72 Years
Enrollment: 392 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021 – 2024
U.S. locations: 1
States / cities: Rochester, New York

Conditions: Urothelial Carcinoma
Interventions: Mocetinostat; Drug
Lead sponsor: Mirati Therapeutics Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 17 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2016
U.S. locations: 14
States / cities: Birmingham, Alabama • Duarte, California • Fort Myers, Florida + 11 more

Conditions: Down Syndrome, Congenital Heart Disease
Interventions: Stanford Binet Intelligence Scales, Fifth Edition, Vineland Adaptive Behavior Scales Third Edition, Peabody Picture Vocabulary Test, Fifth Edition, Expressive Vocabulary Test, Third Edition, Leiter International Performance Scale, Third Edition, Social Communication Questionnaire, Current Form, Aberrant Behavior Checklist, Repetitive Behavior Scale, Revised; Other
Lead sponsor: Carelon Research; Other
Eligibility: 60 Months to 155 Months
Enrollment: 273 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2022 – 2023
U.S. locations: 13
States / cities: Wilmington, Delaware • Washington D.C., District of Columbia • Atlanta, Georgia + 10 more

Conditions: Problem Behavior
Interventions: Progressive Ratio Training (PRT), Differential Reinforcement of Alternative (DRA) Behavior with Extinction; Behavioral
Lead sponsor: Oakland University; Other
Eligibility: 6 Years to 21 Years
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2026
U.S. locations: 2
States / cities: Auburn, Alabama • Rochester, Michigan

Conditions: Mucopolysaccharidosis Type I (MPS I), Mucopolysaccharidosis Type II (MPS II), Mucopolysaccharidosis Type III (MPS III), Mucopolysaccharidosis Type VI (MPS VI), Krabbe Disease
Interventions: Not listed
Lead sponsor: University of Chicago; Other
Eligibility: 1 Day to 18 Years
Enrollment: 19 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2016
U.S. locations: 3
States / cities: Chicago, Illinois • Minneapolis, Minnesota • Buffalo, New York

Conditions: Epilepsy
Interventions: Divalproex; Drug
Lead sponsor: University of Kansas; Other
Eligibility: 18 Years to 65 Years
Enrollment: 18 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2007
U.S. locations: 1
States / cities: Kansas City, Kansas

Conditions: Intellectual and Developmental Disability
Interventions: Community Mobility Planning Process (CMPP); Behavioral
Lead sponsor: Temple University; Other
Eligibility: 16 Years to 30 Years
Enrollment: 60 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 1
States / cities: Gainesville, Florida

Conditions: Asperger's Disorder, Mental Retardation, Children, Adult, Autism Spectrum Disorders
Interventions: Not listed
Lead sponsor: National Institute of Mental Health (NIMH); NIH
Eligibility: 5 Years to 89 Years
Enrollment: 678 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2010
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: FOXP1, Mental Retardation With Language Impairment and With or Without Autistic Features, Autism Spectrum Disorder
Interventions: Not listed
Lead sponsor: Icahn School of Medicine at Mount Sinai; Other
Eligibility: 2 Years and older
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2028
U.S. locations: 1
States / cities: New York, New York

Conditions: Rett Syndrome, RTT, Rett Syndrome, Atypical
Interventions: EEG and Auditory and Visual Evoked Potentials (AEP and VEP), Clinical assessment; Other
Lead sponsor: Children's Hospital of Philadelphia; Other
Eligibility: 1 Year to 18 Years · Female only
Enrollment: 202 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2023 – 2029
U.S. locations: 6
States / cities: Los Angeles, California • Aurora, Colorado • Brookline, Massachusetts + 3 more

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10-Week Physical Activity Program for Mothers of Children With Developmental Disabilities

Acamprosate in Youth With Fragile X Syndrome

Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome

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

Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA

Strategies for Teaching Verbs

Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood

MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis

Regulating Together for Intellectual Disability and Autism: A Group Behavioral Therapy for for Emotion Dysregulation

Enhancing Orthographic Communication and Literacy Outcomes for AAC Learners

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Patterns of Neurodevelopmental Disorders

Development of the ORCA Communication Measure for Rett Syndrome

Evaluation of Patients With Unresolved Chromosome Abnormalities

Testing for COVID-19 in High Risk Children With Intellectual and Developmental Disabilities (COV-IDD)

Study of Mocetinostat in Patients With Urothelial Carcinoma Having Inactivating Alterations of Specific Genes

Congenital Heart Disease: Impact on Learning and Development in Down Syndrome (CHILD-DS)

Preventing Relapse of Problem Behavior Through Behavioral Economics: A Translational Analysis

Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children

Comparison of Immediate vs Gradual Switch to Divalproex in Adults With Intellectual Disability

Community Mobility Plans: Improving Community Participation Through Travel Interventions for Adolescents and Young Adults With Intellectual and Developmental Disabilities

Cognitive Neuroscience of Autism Spectrum Disorders

FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.

Neurophysiologic Biomarkers in Rett Syndrome