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Simons Searchlight: Online Study for Genetic Changes and Autism

Simons Searchlight is an online research program for individuals and families with specific rare genetic changes linked to neurodevelopmental disorders and autism. This study is observational, meaning there are no interventions or treatments being tested. Instead, it collects medical, behavioral, learning, and developmental information from participants. The goal is to better understand these genetic conditions, improve care, and develop targeted treatments. You can participate if you have a genetic condition on their eligible list (like 16P11.2 Deletion Syndrome or 1Q21.1 Deletion) and are fluent in English, Spanish, French, or Dutch. The study aims to gather comprehensive information at the start to help researchers worldwide.

Study design
This is an observational, online study with a planned enrollment of 100,000 participants. It is not testing any specific interventions.
What's involved
You would provide medical, behavioral, learning, and developmental information, and can choose to donate blood, saliva, or both. Data collection for the primary endpoint typically takes about one month.
Compensation
Not stated in the trial record.
Follow-up
Baseline data is collected over the course of one month, on average.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT01238250

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Recruiting
Not specifiedAll AgesObservational
Simons Searchlight
~100,000 participants
Updated 2026-07-23 on ClinicalTrials.gov

At a glance

Recruiting sites
2 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Baseline comprehensive collection of medical, behavioral, learning, and developmental information of people who have documented gene changes that are associated with features of autism and other neurodevelopmental disorders.
Measured over Baseline data is collected over the course of one month, on average.

Conditions

16P11.2 Deletion Syndrome
16p11.2 Duplications
1Q21.1 Deletion
1Q21.1 Microduplication Syndrome (Disorder)
ACTL6B
ADNP
AHDC1
ANK2
ANKRD11
ARID1B
ASH1L
BCL11A
CHAMP1
CHD2
CHD8
CSNK2A1
CTBP1
CTNNB1 Gene Mutation
CUL3
DDX3X
DNMT3A
DSCAM
DYRK1A
FOXP1
GRIN2A
GRIN2B
HIVEP2-Related Intellectual Disability
HNRNPH2
KATNAL2
KDM5B
KDM6B
KMT2C Gene Mutation
KMT2E
KMT5B
MBD5
MED13L
PACS1
PPP2R5D-Related Intellectual Disability
PTCHD1
REST
SCN2A Encephalopathy
SETBP1 Gene Mutation
SETD5
SMARCA4 Gene Mutation
SMARCC2
STXBP1 Encephalopathy With Epilepsy
SYNGAP1-Related Intellectual Disability
TBR1
ARHGEF9
HNRNPU
PPP3CA
PPP2R1A
SLC6A1
2p16.3 Deletions
5q35 Deletions
5q35 Duplications
7q11.23 Duplications
15Q13.3 Deletion Syndrome
16p11.2 Triplications
16P12.2 Microdeletion
16P13.11 Microdeletion Syndrome (Disorder)
17Q12 Microdeletion Syndrome (Disorder)
17Q12 Duplication Syndrome
17Q21.31 Deletion Syndrome
17q21.3 Duplications
ACTB
ADSL
AFF2
ALDH5A1
ANK3
ARX
ATRX Gene Mutation
AUTS2 Syndrome
BCKDK
BRSK2
CACNA1C
CAPRIN1
CASK
CASZ1
CHD3
CIC
CNOT3
CREBBP Gene Mutation
CSDE1
CTCF
DEAF1
DHCR7
DLG4
EBF3
EHMT1
EP300 Gene Mutation
GIGYF1
GRIN1
GRIN2D
IQSEC2-Related Syndromic Intellectual Disability
IRF2BPL
KANSL1
KCNB1
KDM3B
NEXMIF
KMT2A
MBOAT7
MEIS2
MYT1L
NAA15
NBEA
NCKAP1
NIPBL
NLGN2
NLGN3
NLGN4X
NR4A2
NRXN1
NRXN2
NSD1 Gene Mutation
PHF21A
PHF3
PHIP
PSMD12
RELN
RERE
RFX3
RIMS1
RORB
SCN1A
SETD2 Gene Mutation
SHANK2
SIN3A
SLC9A6
SON
SOX5
SPAST
SRCAP
TAOK1
TANC2
TCF20
TLK2
TRIO
TRIP12
UPF3B
USP9X
VPS13B
WAC
WDFY3
ZBTB20
ZNF292
ZNF462
2Q37 Deletion Syndrome
9q34 Duplications
15q15 Deletions
15Q24 Deletion
NR3C2
SYNCRIP
2q37.3 Deletion
6q16 Deletion
15q11.2 BP1-BP2 Deletion
16p13.3 Deletion
17Q11.2 Microduplication Syndrome (Disorder)
17p13.3
Xq28 Duplication
CLCN4
CSNK2B
DYNC1H1
EIF3F
GNB1
MED13
MEF2C
RALGAPB
SCN1B
YY1
Xp11.22 Duplication
PACS2
MAOA
MAOB
HNRNPC
HNRNPD
HNRNPK
HNRNPR
HNRNPUL2
5P Deletion Syndrome
TCF7L2 Gene Mutation
HECW2
PPM1D
RNU4-2
SNAP25
FOXP2
ITSN1

Explore related trials

Neurodevelopmental DisorderGene Variant

Where it's being run

2 sites across 2 states
Massachusetts1
Pennsylvania1

Study leadership

  • Cora Taylor, PhD · PRINCIPAL_INVESTIGATOR · Geisinger Clinic
  • Wendy Chung, MD PhD · PRINCIPAL_INVESTIGATOR · Boston Children's Hospital

Who to contact

Simons Searchlight Study Coordinator
[email protected]
855-329-5638
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Subjects of any age with a genetic condition on our eligible list along with their biological family members. Current list can be found at: https://www.simonssearchlight.org/research/what-we-study/
Must be fluent in English or a supported language. Current supported languages are Spanish, French, and Dutch, with more to come.
Able to register and participate through our online platform, which can be accessed through any device able to connect to the internet.
Able and willing to provide consent.

Exclusion

Some genetic changes that we study have regions or variants that are not eligible for our research. This is determined during our laboratory review that is completed by trained and certified genetic counselors. These specific ineligible regions or variants can change frequently.

What this trial measures

  • Baseline comprehensive collection of medical, behavioral, learning, and developmental information of people who have documented gene changes that are associated with features of autism and other neurodevelopmental disorders.Baseline data is collected over the course of one month, on average.

    Families with people who have specific documented gene changes that are associated with features of autism and other neurodevelopmental disorders will report detailed medical and family history information by phone. Online research surveys will be used to collect information about behavioral and learning characteristics, with the goal of improving clinical care and treatment for these people.