- Conditions
- Williams Beuren Syndrome, Williams Syndrome, Williams Beuren Region Duplication, Dup7
- Interventions
- Not listed
- Lead sponsor
- University of Pennsylvania
- Other
- Eligibility
- Not listed
- Enrollment
- 2,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2024 – 2045
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
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Showing 25–48
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- Conditions
- Obesity, Genetic Disorder, Mental Retardation, Developmental Delay
- Interventions
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- Up to 99 Years
- Enrollment
- 93 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2012 – 2014
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Development Delay, ADHD, Autism Spectrum Disorder, Epilepsy
- Interventions
- Sulfonylurea
- Drug
- Lead sponsor
- Royal Devon and Exeter NHS Foundation Trust
- Other
- Eligibility
- 2 Years to 50 Years
- Enrollment
- 21 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2025
- U.S. locations
- 1
- States / cities
- Chicago, Illinois
- Conditions
- Williams Syndrome, Cardiovascular Disease, Multisystem Developmental Disorder, Elastin Gene Deletion, Hypertension
- Interventions
- Not listed
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- NIH
- Eligibility
- 1 Year to 70 Years
- Enrollment
- 43 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Health-Related Behavior, Quality of Life, Psychological Distress, Diet, Healthy, Physical Inactivity
- Interventions
- PODER Familiar
- Behavioral
- Lead sponsor
- University of Texas at Austin
- Other
- Eligibility
- 6 Years to 100 Years
- Enrollment
- 90 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2023 – 2024
- U.S. locations
- 2
- States / cities
- Chicago, Illinois • Austin, Texas
- 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
- Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly, Fragile X Syndrome, Facioscapulohumeral Muscular Dystrophy 1
- Interventions
- Standard of care genetic testing group
- Other
- Lead sponsor
- Bionano Genomics
- Industry
- Eligibility
- Not listed
- Enrollment
- 1,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2024
- U.S. locations
- 8
- States / cities
- Atlanta, Georgia • Augusta, Georgia • Iowa City, Iowa + 5 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
- Mental Health Conditions, Developmental Disability
- Interventions
- Intake and quarterly assessment:, Consultation & coping skills coaching:, 24-hour urgent crisis response and intervention:, Service linkages, referrals, outreach, & training:
- Other
- Lead sponsor
- University of New Hampshire
- Other
- Eligibility
- 12 Years to 45 Years
- Enrollment
- 339 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2023 – 2027
- U.S. locations
- 1
- States / cities
- Concord, North Carolina
- Conditions
- Intellectual Disability, Developmental Disability, Chronic Conditions, Multiple
- Interventions
- Health Research ToolKit Development
- Other
- Lead sponsor
- University of Wisconsin, Madison
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 57 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2020
- U.S. locations
- 1
- States / cities
- Madison, Wisconsin
- Conditions
- Knowledge, Behavior
- Interventions
- STEPS2, STYH
- Behavioral
- Lead sponsor
- City University of New York, School of Public Health
- Other
- Eligibility
- 16 Years to 27 Years
- Enrollment
- 856 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2023 – 2027
- U.S. locations
- 1
- States / cities
- New York, New York
- Conditions
- Anxiety Disorders, Child Developmental Disorders, Pervasive
- Interventions
- Not listed
- Lead sponsor
- University of California, Davis
- Other
- Eligibility
- 5 Years to 25 Years
- Enrollment
- 511 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2005 – 2010
- U.S. locations
- 1
- States / cities
- Sacramento, California
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan and Epilepsy), Alpha-Dystroglycanopathy (Dystroglycanopathy, Congenital With or Without Mental Retardation (Formerly MDC1C)), Alpha-Dystroglycanopathy (Fukuyama CMD), Alpha-Dystroglycanopathy (LGMDR09 FKRP Related (Formerly LGMD2I)), Alpha-Dystroglycanopathy (LGMDR11 POMT1 Related (Formerly LGMD2K)), Alpha-Dystroglycanopathy (LGMDR13 FKTN Related (Formerly LGMD2M)), Alpha-Dystroglycanopathy (LGMDR14 POMT2 Related (Formerly LGMD2N)), Alpha-Dystroglycanopathy (LGMDR15 POMGnT1 Related (Formerly LGMD2O)), Alpha-Dystroglycanopathy (LGMDR19 GMPPB Related (Formerly LGMD2T)), Alpha-Dystroglycanopathy (LGMDR20 ISPD Related (Formerly LGMD2U)), Alpha-Dystroglycanopathy (LGMDR24 POMGnT2 Related), Alpha-Dystroglycanopathy (Muscle Eye Brain Disease (MEB)), Alpha-Dystroglycanopathy (Walker Warburg Syndrome (WWS)), Choline Kinase B Receptor - CHKB, Collagen VI Related Disorders, Collagen XII Related Disorders, Congenital Muscular Dystrophy Not Otherwise Specified (Including Merosin Positive), Congenital Muscular Dystrophy With Cataracts and Intellectual Disability (MDCCAID), Congenital Muscular Dystrophy With Joint Hyperlaxity, Congenital Muscular Dystrophy With Rigid Spine Related to ACTA1, Emery-Dreifuss Muscular Dystrophy, GOLGA2-related Congenital Muscle Dystrophy With Brain Involvement, LMNA Related Disorders, Merosin Deficient CMD (Full or Partial), Nesprin Related MD (SYNE1), SELENON Related Disorders (Previously Known as SEPN1), SELENON Related Myopathy (Aka SEPN1), Telethonin CMD, Congenital Myasthenic Syndrome, Limb-Girdle Muscular Dystrophy, LGMDD01 - DNAJB6 (Formerly LGMD1D), LGMDD05 - Collagen VI Related Bethlem Myopathy (Dominant), LGMDR07 - Telethonin (TCAP) Related (Formerly LGMD2G), LGMDR08 - TRIM Related (Formerly LGMD2H), LGMDR09 - FKRP Related (Formerly LGMD2I), LGMDR10 - Titin (TTN) Related (Formerly LGMD2J), LGMDR11 - POMT1 Related (Formerly LGMD2K), LGMDR13 - Fukutin (FKTN) Related (Formerly LGMD2M), LGMDR14 - POMT2 Related (Formerly LGMD2N), LGMDR15 - POMGnT1 Related (Formerly LGMD2O), LGMDR16 - DAG1 Related Dystroglycanopathy (Formerly LGMD2P), LGMDR17 - Plectin (PLEC) Related (Formerly LGMD2Q), LGMDR18 - TRAPPC11 Related (Formerly LGMD2S), LGMDR19 - GMPPB Related (Formerly LGMD2T), LGMDR20 - ISPD Related (Formerly LGMD2U), LGMDR22 - Collagen VI Related Bethlem Myopathy (Recessive), LGMDR23 - LAMA2 Related, LGMDR24 - POMGnT2 Related
- Interventions
- Not listed
- Lead sponsor
- Cure CMD
- Other
- Eligibility
- Not listed
- Enrollment
- 4,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2009 – 2029
- U.S. locations
- 1
- States / cities
- Lakewood, California
- Conditions
- Mental Retardation, Developmental Delay Disorder
- Interventions
- risperidone, clozapine, olanzapine
- Drug
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- 6 Years to 60 Years
- Enrollment
- 50 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 1998 – 2001
- U.S. locations
- 1
- States / cities
- Lawrence, Kansas
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
- Interventions
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Behavioral
- Lead sponsor
- Children's National Research Institute
- Other
- Eligibility
- 12 Months to 99 Years
- Enrollment
- 480 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2025 – 2029
- U.S. locations
- 1
- States / cities
- Washington D.C., District of Columbia
- Conditions
- Autism Spectrum Disorder, Intellectual Disability
- Interventions
- Use of Expert Guiding Technology (GAINS) to Improve Live and Vocational Skills for Individuals with Developmental Challenges
- Behavioral
- Lead sponsor
- John T. Nosek
- Industry
- Eligibility
- Not listed
- Enrollment
- 16 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2022
- U.S. locations
- 1
- States / cities
- Newark, Delaware
- 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
- Developmental Disabilities, Weight Loss, Body Weight, Down Syndrome, Body Weight Changes, Intellectual Disability
- Interventions
- Enhanced Stop Light Diet (eSLD), Conventional Diet (CD), Face-to-face (FTF), Technology (TECH), iPad with FaceTime
- Dietary Supplement · Behavioral · Other
- Lead sponsor
- University of Kansas Medical Center
- Other
- Eligibility
- 13 Years to 21 Years
- Enrollment
- 110 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2021
- U.S. locations
- 2
- States / cities
- Kansas City, Kansas • Lawrence, Kansas
- Conditions
- Down Syndrome, Aneuploidy
- Interventions
- Maternal blood draw of 30 to 50ml
- Other
- Lead sponsor
- Sequenom, Inc.
- Industry
- Eligibility
- Female only
- Enrollment
- 150 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2009 – 2021
- U.S. locations
- 10
- States / cities
- Phoenix, Arizona • San Diego, California • Washington D.C., District of Columbia + 3 more
- Conditions
- Developmental Dysphasia, Epileptic Encephalopathy, Childhood-Onset, X-Linked Intellectual Disability
- Interventions
- Not listed
- Lead sponsor
- University of California, San Francisco
- Other
- Eligibility
- 6 Years to 21 Years
- Enrollment
- 15 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2025
- U.S. locations
- 1
- States / cities
- San Francisco, California
- Conditions
- Tardive Dyskinesia, Intellectual Disability, Developmental Disabilities
- Interventions
- Valbenazine Oral Capsule
- Drug
- Lead sponsor
- Stephen Ruedrich
- Other
- Eligibility
- 18 Years to 70 Years
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2027
- U.S. locations
- 1
- States / cities
- Cleveland, Ohio
- Conditions
- Depression, Anxiety, Transition
- Interventions
- Adapted Teens Achieving Mastery over Stress (TEAMS) Treatment, Adapted Teens Achieving Mastery over Stress (TEAMS) Prevention, Adapted Competent Adulthood Transition with Cognitive-behavioral & Interpersonal Training (CATCH-IT), Strengthening Families, Virtual psycho-educational discussion groups for caregivers and participants, Maternal Child Health Bureau (MCHB) Care Coordination
- Behavioral · Other
- Lead sponsor
- University of Illinois at Chicago
- Other
- Eligibility
- 13 Years to 20 Years
- Enrollment
- 780 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2022 – 2028
- U.S. locations
- 1
- States / cities
- Chicago, Illinois
- Conditions
- Rett Syndrome
- Interventions
- TSHA-102
- Genetic
- Lead sponsor
- Taysha Gene Therapies, Inc.
- Industry
- Eligibility
- 2 Years to 3 Years · Female only
- Enrollment
- 3 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2031
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Intellectual Disability
- Interventions
- Genomic sequencing and molecular diagnostic results, if any., EHR-Based Network Model
- Genetic · Other
- Lead sponsor
- Rady Pediatric Genomics & Systems Medicine Institute
- Other
- Eligibility
- 7 Years to 17 Years
- Enrollment
- 150 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2023 – 2027
- U.S. locations
- 1
- States / cities
- San Diego, California