Autism Spectrum Disorder Clinical Trial
Official title:
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.
Status | Recruiting |
Enrollment | 190 |
Est. completion date | December 2026 |
Est. primary completion date | December 2025 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 18 Months and older |
Eligibility | Inclusion Criteria: - Individuals older than 18 months of age with pathogenic deletions or mutations of the SHANK3 gene - English speaking individuals Exclusion Criteria: - Has taken an investigational drug as part of another research study, within 30 days prior to study enrollment - For subjects involved in imaging biomarker assessment: contraindications to 3T MRI scanning, such as metal implants/non-compatible medical devices or medical conditions, including vagus nerve stimulator - For subjects involved in EEG/ ERP biomarker assessment: contraindications to EEG/ERP, such as uncooperative or destructive behaviors preventing lead placement or capture by ERP/VEP equipment. Under age 2 or over age 11 at the time of enrollment. - Unwilling or unable to comply with study procedures and assessments |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health | Bethesda | Maryland |
United States | Boston Children's Hospital | Boston | Massachusetts |
United States | Rush University Medical Center | Chicago | Illinois |
United States | Icahn School of Medicine at Mount Sinai | New York | New York |
United States | Stanford University | Stanford | California |
Lead Sponsor | Collaborator |
---|---|
Boston Children's Hospital | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Office of Rare Diseases (ORD), Phelan-McDermid Syndrome Foundation |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Change in global cognitive ability at 12 months | Using Mullen Scales for Early Learning or Stanford Binet-5 to measure global cognitive ability | 12 months | |
Primary | Change in adaptive behavior at 12 months | Using Vineland Adaptive Behavior Scales to measure adaptive behavior | 12 months | |
Primary | Change in language abilities at 12 months | Using composite of Mullen Subscales, Vineland Subscales and Macarthur Bates Communication Developmental Inventory to measure language | 12 months | |
Primary | Change in motor functioning at 12 months | Using composite of Mullen Subscales and Vineland Subscales to measure motor functioning | 12 months | |
Primary | Change in autism symptoms at 12 months | Using composite of Autism Diagnostic Observation Schedule and Repetitive Behavior Scales-Revised to measure autism | 12 months | |
Primary | Change in global cognitive ability at 24 months | Using Mullen Scales for Early Learning or Stanford Binet-5 to measure global cognitive ability | 24 months | |
Primary | Change in adaptive behavior at 24 months | Using Vineland Adaptive Behavior Scales to measure adaptive behavior | 24 months | |
Primary | Change is language abilities at 24 months | Using composite of Mullen Subscales, Vineland Subscales and Macarthur Bates Communication Developmental Inventory to measure language | 24 months | |
Primary | Change in motor functioning at 24 months | Using composite of Mullen Subscales and Vineland Subscales to measure motor functioning | 24 months | |
Primary | Change in autism symptoms at 24 months | Using composite of Autism Diagnostic Observation Schedule and Repetitive Behavior Scales-Revised to measure autism | 24 months |
Status | Clinical Trial | Phase | |
---|---|---|---|
Completed |
NCT05207956 -
App for Strengthening Services In Specialized Therapeutic Support
|
N/A | |
Completed |
NCT03286621 -
Development of Eye-tracking Based Markers for Autism in Young Children
|
||
Completed |
NCT02608333 -
Efficiency of Early Intervention for Autism Spectrum Disorder
|
N/A | |
Recruiting |
NCT05935722 -
Evaluation of a Home-based Parenting Support Program: Parenting Young Children
|
N/A | |
Active, not recruiting |
NCT06259539 -
A YouTube Curriculum for Children With Autism and Obesity
|
N/A | |
Active, not recruiting |
NCT06303791 -
Digital-based Psychosocial Intervention for Parents of Children With Neurodevelopmental Disorders
|
N/A | |
Enrolling by invitation |
NCT05017779 -
A Hybrid Effectiveness-implementation Trial of a High School-based Executive Function Treatment for Autistic Youth
|
N/A | |
Completed |
NCT04772898 -
Effectiveness of a 6-week Hippotherapy Program in Children With Autism Spectrum Disorder
|
N/A | |
Recruiting |
NCT04987541 -
The Therapeutic Effect of TBS Stimulation on Emotion Regulation in Autism Spectrum Disorder
|
N/A | |
Completed |
NCT04308915 -
Mobile-based Games for Cognitive Training in Children With Neurodevelopmental Disorders
|
N/A | |
Completed |
NCT06038435 -
The Effect of Cognitive Orientation Approach on Daily Occupational Performance With Autism Spectrum Disorder
|
N/A | |
Terminated |
NCT04049981 -
Investigation of Mechanisms of Action in Superpower Glass
|
Phase 1/Phase 2 | |
Completed |
NCT03693313 -
The Effect of CrossFit Kids on Social Skills in Children With Autism Spectrum Disorder (CrossFit KAMP)
|
N/A | |
Recruiting |
NCT04107064 -
Achieving Steady Work Among Adults With Autism Through Specialized Employment Program
|
N/A | |
Recruiting |
NCT03812068 -
Parent-mediated Developmental Behavioral Intervention
|
N/A | |
Completed |
NCT03206996 -
Exposure Therapy for Auditory Sensitivity in Autism
|
N/A | |
Completed |
NCT02299700 -
Study to Evaluate the Janssen Autism Knowledge Engine in Children and Adults With Autism Spectrum Disorder
|
N/A | |
Completed |
NCT03422016 -
Electroretinogram in Autistic Spectrum Disorders
|
||
Active, not recruiting |
NCT03548779 -
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
|
N/A | |
Recruiting |
NCT05114538 -
Improving the Part C Early Intervention Service Delivery System for Children With ASD
|
N/A |