Association between microdeletion and microduplication at 16p11.2 and autism.
Lauren A Weiss, Yiping Shen, Joshua M Korn...
https://pubmed.ncbi.nlm.nih.gov/18184952Actively Recruiting
All Genders
ID01238250
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Led by Simons Searchlight · Updated on 2025-06-06
100000
Participants Needed
2
Research Sites
N/A
Total Duration
On this page
Sponsors
S
Simons Searchlight
Lead Sponsor
G
Geisinger Clinic
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying individuals with rare genetic changes linked to neurodevelopmental disorders and features of autism through an international, observational research program called Simons Searchlight. This program aims to gather detailed medical, behavioral, learning, and developmental information to enhance clinical care and treatment for people with these genetic differences. The study is supported by the Simons Foundation, which focuses on finding science-based solutions to improve lives. Participants join remotely via an online platform or phone, allowing English and Spanish-speaking families worldwide to take part at convenient times. They may provide blood or saliva samples, which are connected to their health and developmental data for research purposes. The collected information is anonymized and shared with qualified scientists globally to advance understanding of specific gene changes. During the study, baseline data is collected over about one month, with ongoing follow-up data gathered regularly to track changes over time. Participants provide comprehensive information about their medical, behavioral, learning, and developmental status. The study does not involve treatment but focuses on detailed data collection to support research. Participation can continue long-term, helping researchers monitor and learn from these rare genetic variants.
CONDITIONS
Brief Title
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Subjects of any age with a genetic condition on the study's eligible list, along with their biological family members
- Fluent in English or a supported language such as Spanish, French, or Dutch
- Able to register and participate through the online platform via any internet-connected device
- Able and willing to provide consent for participation
You will not qualify if you...
- Genetic changes with regions or variants deemed ineligible during laboratory review by certified genetic counselors
- Specific ineligible regions or variants may change over time and prevent participation
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (remote)
Diagnostic Evaluation
Duration - About 1 month
Participants provide medical, behavioral, learning, and developmental information along with biological samples such as blood or saliva to understand genetic changes associated with autism and related neurodevelopmental disorders.
1 or more remote data collection sessions
Long-term Monitoring
Duration - Ongoing over months or years
Participants provide repeated comprehensive medical, behavioral, learning, and developmental information on a regular basis to track changes over time related to their genetic condition.
Repeated remote data collection sessions at regular intervals
Trial Site Locations
Total: 2 locations
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
2
Geisinger Health System
Lewisburg, Pennsylvania, United States, 17837
Actively Recruiting
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Research Team
S
Simons Searchlight Study Coordinator
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.
Simons Vip Consortium
https://pubmed.ncbi.nlm.nih.gov/22445335A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Flore Zufferey, Elliott H Sherr, Noam D Beckmann...
https://pubmed.ncbi.nlm.nih.gov/23054248The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.
Andres Moreno-De-Luca, David W Evans, K B Boomer...
https://pubmed.ncbi.nlm.nih.gov/25493922