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

Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute it to qualified researchers.

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Key information

Conditions

16P11.2 Deletion Syndrome 15Q13.3 Deletion Syndrome 15Q24 Deletion 15q11.2 BP1-BP2 Deletion 15q15 Deletions 15q24 Microdeletion 16P12.2 Microdeletion 16P13.11 Microdeletion Syndrome (Disorder) 16p11.2 Duplications 16p11.2 Triplications 16p13.3 Deletion 17Q11.2 Microduplication Syndrome (Disorder) 17Q12 Duplication Syndrome 17Q12 Microdeletion Syndrome (Disorder) 17Q21.31 Deletion Syndrome 17p13.3 17q21.3 Duplications 1Q21.1 Deletion 1Q21.1 Microduplication Syndrome (Disorder) 2Q37 Deletion Syndrome 2p16.3 Deletions 2q37.3 Deletion 5P Deletion Syndrome 5q35 Deletions 5q35 Duplications 6q16 Deletion 7q11.23 Duplications 9q34 Duplications ACTB ACTL6B ADNP ADSL AFF2 AHDC1 ALDH5A1 ANK2 ANK3 ANKRD11 ARHGEF9 ARID1B ARX ASH1L ATRX Gene Mutation AUTS2 Syndrome Abnormalities, Multiple BCKDK BCL11A BRSK2 CACNA1C CAPRIN1 CASK CASZ1 CHAMP1 CHD2 CHD3 CHD8 CIC CLCN4 CNOT3 CREBBP Gene Mutation CSDE1 CSNK2A1 CSNK2B CTBP1 CTCF CTNNB1 Gene Mutation CUL3 Chromosome 15q13.3 Microdeletion Syndrome Chromosome 17q21.31 Deletion Syndrome Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb Chromosome 1q21.1 Duplication Syndrome Chromosome 2q37 deletion syndrome Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cornea Plana 1 Cri-du-Chat Syndrome DDX3X DEAF1 DHCR7 DLG4 DNMT3A DSCAM DYNC1H1 DYRK1A EBF3 EHMT1 EIF3F EP300 Gene Mutation Epileptic Encephalopathy, Early Infantile, 4 FOXP1 FOXP2 GIGYF1 GNB1 GRIN1 GRIN2A GRIN2B GRIN2D Genetic Diseases, Inborn HECW2 HIVEP2-Related Intellectual Disability HNRNPC HNRNPD HNRNPH2 HNRNPK HNRNPR HNRNPU HNRNPUL2 Hereditary Sensory and Autonomic Neuropathies Heredodegenerative Disorders, Nervous System IQSEC2-Related Syndromic Intellectual Disability IRF2BPL ITSN1 Intellectual Disability KANSL1 KATNAL2 KCNB1 KDM3B KDM5B KDM6B KMT2A KMT2C Gene Mutation KMT2E KMT5B MAOA MAOB MBD5 MBOAT7 MED13 MED13L MEF2C MEIS2 MYT1L NAA15 NBEA NCKAP1 NEXMIF NIPBL NLGN2 NLGN3 NLGN4X NR3C2 NR4A2 NRXN1 NRXN2 NSD1 Gene Mutation Nervous System Diseases Nervous System Malformations Neurobehavioral Manifestations Neurodegenerative Diseases Neurologic Manifestations Neuromuscular Diseases PACS1 PACS2 PHF21A PHF3 PHIP PPM1D PPP2R1A PPP2R5D-Related Intellectual Disability PPP3CA PSMD12 PTCHD1 Peripheral Nervous System Diseases Polyneuropathies RALGAPB RELN RERE RFX3 RIMS1 RNU4-2 RORB Rest Rhabdoid Tumor Predisposition Syndrome 2 SCN1A SCN1B SCN2A Encephalopathy SETBP1 Gene Mutation SETD2 Gene Mutation SETD5 SHANK2 SIN3A SLC6A1 SLC9A6 SMARCA4 Gene Mutation SMARCC2 SNAP25 SON SOX5 SPAST SRCAP STXBP1 Encephalopathy With Epilepsy SYNCRIP SYNGAP1-Related Intellectual Disability TANC2 TAOK1 TBR1 TCF20 TCF7L2 Gene Mutation TLK2 TRIO TRIP12 UPF3B USP9X VPS13B WAC WDFY3 Xp11.22 Duplication Xq28 Duplication YY1 ZBTB20 ZNF292 ZNF462

Sex eligibility

All sexes

Study type

Observational

Primary location

Boston Children's Hospital, Boston, Massachusetts, United States

About this study

Simons Searchlight has expanded over the last several years to include additional gene changes and participation through remote formats, either online or by phone. This allows English and Spanish-speaking families from across the world to participate at times that are convenient to their schedule. Participants can donate blood, saliva, or both. These samples are then linked to medical, behavioral, learning, and developmental data in order to understand the effects of specific gene changes.

Information provided by participants will be stripped of any personal identifying information and made available to qualified scientists around the world.

The Simons Foundation, a New York-based private foundation, is committed to finding science-based solutions and working towards the development of targeted treatments to improve the lives of people who have genetic and developmental differences.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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 criteria

-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.

Treatment and study plan

Primary outcomes

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.

Time frame: 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.

Secondary outcomes

Longitudinal, or long-term, comprehensive collection of medical, behavioral, learning, and developmental information from people who have documented gene changes that are associated with features of autism and other neurodevelopmental disorders.

Time frame: Repeat data collection will occur on a regular basis and will be obtained over the course of one month, on average

To monitor and document the development of people who have gene changes that are related to autism and other neurodevelopmental disorders, online research surveys and updates to the family and medical history will be collected on an annual basis.

Study contacts

Contact information is provided by the study sponsor or research team.

Simons Searchlight Study Coordinator

CONTACT

[email protected]

855-329-5638

Sponsors and collaborators

Lead sponsor

Simons Searchlight

Other

Collaborators

Boston Children's Hospital
Geisinger Clinic
Simons Foundation

Registry information

Important dates

Study start: 2010
Primary completion: 2050
Study completion: 2050
First posted: Nov 10, 2010
Registry last updated: Jul 23, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting