Clinical trials: Intellectual Disabilities Global Developmental Delay
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Intellectual Disability, Intellectual Disability, Mild
Therapeutic Play in Children With Mild Intellectual Disability
The aim of this study is to determine the effectiveness of a designed therapeutic play activities program on improving motor adaptive behavior in a sample of Egyptian children with mild intellectual disabilities.
- Conditions
- Intellectual Disability, Intellectual Disability, Mild, Motor and Developmental Delay, Motor Delay
- Trial name
- NCT06735482
- Testing
- Therapeutic play program
- Where
- Egypt
- Volunteers
- 20 people
- Sponsor
- Beni-Suef University
Intellectual Disability, Developmental Delay
Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
The study uses a randomized controlled study design of pediatric neurologists and developmental pediatricians and front-line (primary care) pediatricians to determine if use of FirstStepDx PLUS and Next StepDx PLUS are associated…
- Trial name
- NCT02414438
- Testing
- FirstStepDX PLUS and NextStepDX PLUS Webinar, FirstStepDX PLUS and NextStepDX PLUS Test Results
- Where
- United States
- Volunteers
- 217 people, healthy volunteers welcome
- Sponsor
- Qure Healthcare, LLC
ADNP, Helsmoortel-Van Der Aa Syndrome
ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
ADNP, also known as Activity Dependent Neuroprotective Protein, is a rare neurodevelopmental disorder caused by mutations encompassing the ADNP gene on chromosome 20.
- Conditions
- ADNP, Helsmoortel-Van Der Aa Syndrome, Autism Spectrum Disorder
- Trial name
- NCT03718936
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Neurodevelopmental Disorders, Intellectual Disability
Longitudinal Study of Neurogenetic Disorders
The purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medical problems and any treatment.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Developmental Delay, Autism Spectrum Disorder
- Trial name
- NCT03492060
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Columbia University
Genetic Disorder, Asperger Disorder
Pediatric Patients With Metabolic or Other Genetic Disorders
Background: Some patients with unusual genetic conditions are referred to the National Institutes of Health (NIH). They may not be eligible to join current research studies.
- Conditions
- Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome
- Trial name
- NCT02769949
- Where
- United States
- Volunteers
- 96 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Angelman Syndrome, Nervous System Diseases
Dietary Supplements for the Treatment of Angelman Syndrome
Angelman syndrome (AS) is a complex genetic disorder that affects the nervous system. The purpose of this study is to determine the effectiveness of certain dietary supplements in treating the symptoms of AS.
- Trial name
- NCT00348933
- Testing
- Betaine, Creatine, Metafolin
- Where
- 4 sites in United States
- Volunteers
- 90 people
- Sponsor
- University of California, San Diego
Intellectual Disabilities Global Developmental Delay
Dyadic Creative Arts Therapies-based Intervention for Children With Intellectual and Developmental Disabilities
Background: Interactions between parents and children with intellectual and developmental disabilities (IDD) tend to be directive and didactic lacking in playfulness and enjoyment.
- Trial name
- NCT06541782
- Testing
- Dyadic CAT-based Intervention, Psycho-Educational Parent Counseling
- Where
- Israel
- Volunteers
- 60 people
- Sponsor
- University of Haifa
Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD)
Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders
This observational study evaluates functional and developmental outcomes in pediatric participants undergoing a two week intensive multimodal neurorehabilitation program.
- Conditions
- Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD), Neurodevelopmental Disorders and Developmental Abnormalities, Developmental Delay (Disorder)
- Trial name
- GEN-HOPE (NCT07493096)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Healing Hope International
Encephalopathy, Birth Defect
Clinical Utility of Pediatric Whole Exome Sequencing
The investigator aims to examine the clinical utility of WES, including assessment of a variety of clinical outcomes in undiagnosed pediatric cases.
- Conditions
- Encephalopathy, Birth Defect, Intellectual Disability, Multiple Congenital Anomaly
- Trial name
- NCT03525431
- Testing
- Whole Exome Sequencing
- Where
- 4 sites in United States
- Volunteers
- 529 people
- Sponsor
- University of California, San Francisco
Developmental Delay Disorders, Chromosome Deletion
Treatment Strategies for Children With Smith-Magenis Syndrome
This study will examine the effect of bright light or melatonin treatment on sleep in children with Smith-Magenis syndrome (SMS), a genetic disorder characterized by certain physical, behavioral and developmental features.
- Conditions
- Developmental Delay Disorders, Chromosome Deletion, Mental Retardation, Sleep Disorders, Circadian Rhythm
- Trial name
- NCT00506259
- Testing
- dTR Melatonin (NIH CC PDS), Phototherapy (Bright Light), Melatonin CR
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Mental Retardation, Developmental Delay Disorder
Atypical Neuroleptic Drugs in People With Mental Retardation/Developmental Delay
Psychiatric drugs are often used to treat behavioral symptoms of mental retardation/developmental delay (MR/DD). These drugs can cause serious side effects. Newer drugs may have decreased side effects.
- Trial name
- NCT00065273
- Testing
- risperidone, clozapine, olanzapine
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Creatine Deficiency, X-linked
Observational Study of Males With Creatine Transporter Deficiency
The objectives of this study are to illustrate the clinical, neuro/electrophysiologic, biochemical, and developmental status and progression of patients with Creatine Transporter Deficiency (CTD) and to evaluate the utility of…
- Trial name
- Vigilan (NCT02931682)
- Where
- 10 sites in United States, Canada
- Volunteers
- 50 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Hypothyroidism, Global Developmental Delay
Register for Patients With Thyroid Hormone Resistance.
Thyroid hormones (TH) play a pivotal role in the development and function of the mammalian brain. Patients with impaired thyroid hormone transport into the brain tissue or in the case of defective local thyroid hormone receptor…
- Conditions
- Hypothyroidism, Global Developmental Delay, Intellectual Disability, Dystonia
- Trial name
- DEEPTYPE (NCT06566066)
- Testing
- no intervention
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Charite University, Berlin, Germany
Global Developmental Delay, Cerebral Palsy
Predicting Developmental Disability Type and Mental Retardation Level in Children With General Developmental Delay
The purpose of this study is to find the relationship between the stage and quality of developmental delay during infancy and toddler age, and the final diagnosis that the child gets a few years later (MR, type of PDD, CP or…
- Conditions
- Global Developmental Delay, Cerebral Palsy, Mental Retardation, Pervasive Developmental Disorders
- Trial name
- NCT01430845
- Where
- Israel
- Volunteers
- 150 people
- Sponsor
- Sheba Medical Center
Developmental Delay Disorder, Intellectual Disability
Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
To evaluate the safety, tolerability and preliminary efficacy study of a single intrathecal injection of the dual vector AAV-CHD3-R1025W base editor for the treatment of developmental disorders caused by the R1025W mutation in…
- Conditions
- Developmental Delay Disorder, Intellectual Disability, Rare Diseases
- Trial name
- NCT06860672
- Testing
- Dual vector DNA base editor
- Where
- China
- Volunteers
- 1 people
- Sponsor
- Yongguo Yu
Obesity, Genetic Disorder
Brain-Derived Neurotrophic Factor in Obesity and Brain Function
Background: Prader-Willi syndrome (PWS) and MC4R genetic mutations are two conditions that can cause problems with appetite regulation. People with PWS often have behavior and thinking problems.
- Conditions
- Obesity, Genetic Disorder, Mental Retardation, Developmental Delay
- Trial name
- NCT01517048
- Where
- 2 sites in United States, Canada
- Volunteers
- 93 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Intellectual Disability, Developmental Delay
Biomarker for Creatine Deficiency Syndromes (BioCDS)
Development of a new mass spectrometry-based biomarker for the ear-ly and sensitive diagnosis of the Creatine Deficiency Syndromes from dry-blood-spot sample
- Conditions
- Intellectual Disability, Developmental Delay, Movement Disorder, Behavioral Disorder
- Trial name
- BioCDS (NCT02934854)
- Where
- 4 sites in Egypt, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Deafness, Hearing Loss
Outcomes In Children With Developmental Delay And Deafness
Children with special needs require complex, individualized therapy to maximize their long-term quality of life. One subset of children with special needs includes those with both developmental delays and deafness.
- Trial name
- NCT01256229
- Testing
- cochlear implantation, hearing aids
- Where
- 2 sites in United States
- Volunteers
- 303 people
- Sponsor
- Stanford University
Smith-Magenis Syndrome (SMS)
Natural History Study of Smith-Magenis Syndrome
This study will examine how a rare disease called Smith-Magenis syndrome (SMS) affects people and how they change over time. SMS is caused by a small chromosome 17p11.2 deletion (missing piece).
- Trial name
- NCT00013559
- Where
- United States
- Volunteers
- 593 people
- Sponsor
- National Human Genome Research Institute (NHGRI)