Clinical Trials Logo

Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT02461420
Other study ID # P00013300
Secondary ID 1U54NS092090
Status Recruiting
Phase
First received
Last updated
Start date May 2015
Est. completion date December 2026

Study information

Verified date November 2023
Source Boston Children's Hospital
Contact Rajna Filip-Dhima, MS
Phone 617-919-7068
Email Rajna.Filip-Dhima@childrens.harvard.edu
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

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.


Description:

Phelan-McDermid syndrome (PMS) or 22q13 Deletion syndrome, caused by a loss of one copy of the SHANK3 gene, is characterized by global developmental delay/intellectual disability, motor skills deficits, delayed or absent speech, and autism spectrum disorder. The goal of this study is to understand more about the PMS phenotype and the biological pathways associated with ID and ASD in the disorder, and to establish the foundation for future clinical trials in PMS and in other ID/ASD-associated disorders that share signaling pathways with PMS. Individuals with PMS will be asked to participate in this study if they are 18 months or older with pathogenic deletions or mutations of the SHANK3 gene at time of enrollment, as well as healthy controls. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals' primary communicative language must be English. Parents and unaffected siblings may also be asked to consent to have blood drawn for analysis. The study involves 3 on site visits over 2 years. Study visits involve a physical exam, medical history questions, blood work and neuropsychological assessments. A subset of participants between the ages of 2 and 11 years old will take part in the EEG portion of the study. Individuals who have a clinically indicated MRI will have an option to provide routine clinical scans for analysis.


Recruitment information / eligibility

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

Study Design


Locations

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

Sponsors (7)

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

Country where clinical trial is conducted

United States, 

Outcome

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
See also
  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