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

  • End date
    Oct 3, 2050
  • participants needed
  • sponsor
    Simons Searchlight
Updated on 3 October 2021
genetic testing


Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have gene changes that are linked to autism and other neurodevelopmental disorders. 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.


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.

Condition MED12 Gene Mutation, 9q34 Duplications, GRIN1, EIF3F, Xp11.22 Duplication, SMARCC2, NAA15, PBRM1, CHD2, KDM6B, TCF20, RORB, SETD5, 8P23.1 Duplication Syndrome (Disorder), HIVEP2-Related Intellectual Disability, RIMS1, RIT1, DMPK, 22Q13.3 Deletion Syndrome, 17Q11.2 Microduplication Syndrome (Disorder), ADSL, NRXN1, KCNQ2, 5q35 Duplications, 15q11.2-q13.1 Deletions, SCN8A, SOX5, 17q21.3 Duplications, TSC1, SCN8A Encephalopathy, CTBP1, T-Cell-Specific Transcription Factor 4, AUTS2 Syndrome, 6q16 Deletion, CSNK2A1, SCN2A Encephalopathy, 1Q21.1 Deletion, SETD2, SHANK3, 2p16.3 Deletions, CDKL5 Disorder, 3q29 Deletions, 16p13.3 Deletions, TSC2, ANK2, TSHZ3, MBD5, 7q11.23 Duplications, ZNF462, UPF3B, MEIS2, ANKRD11, CTNNB1 Gene Mutation, CHAMP1, 17q12 Deletions, PPP2B, HNRNPH2, CDKL5, SETBP1 Gene Mutation, 15q15 Deletions, HIVEP2, 17p13.3, DiGeorge Syndrome, EBF3, 1Q21.1 Microduplication Syndrome (Disorder), beta catenin, PTPN11 Gene Mutation, ATRX Gene Mutation, KCNQ3, CNOT3, AUTS2, 17Q12 Duplication Syndrome, EHMT1, PPP2R1A, KDM3B, RAI1, 5q35 Deletions, KMT2E, DEAF1, TRIP12, TSC2 Gene Mutation, KRAS gene, Rest, PHF3, 7q11.23 Deletions, 22Q11.2 Duplication, 2Q37 Deletion Syndrome, CREBBP, CTCF, KMT2A, 17P11.2 Duplication Syndrome, ZNF292, SCN1B, NSD1 Gene Mutation, SOS1, CAPRIN1, CHD7, CIC, NRXN2, PPP3CA, RERE, 5q24 Deletions, Neurofibromatosis Type 1 Protein, IRF2BPL, NR4A2, SIN3A, SMARCA4 Gene Mutation, Additional Genetic Changes Associated With Autism May be Added as Identified, 16p11.2 Triplications, CSDE1, IQSEC2, ASH1L, ARID1B, PPP1CB, ARX, NLGN4X, CUL3, NCKAP1, von Recklinghausen's Disease, KIAA2022, DYRK1A, 2q34 Duplication, CSNK2B, MED13, CACNA1C, DYNC1H1, SETD2 Gene Mutation, NF1 gene, SYNCRIP, VPS13B, 16P12.2 Microdeletion, ANK3, MYT1L, ACTB, AHDC1, PPP2R5D, TANC2, TBR1, GRIN2A, 1q21.1 Duplications, Cri du chat syndrome, SCN2A, 8p23.1 Deletions, braf, CASK, EP300, PPP2R5D-Related Intellectual Disability, STXBP1, SLC6A1, DLG4, PCDH19, SETBP1, 17p11.2 Deletions, NEXMIF, CLCN4, TSC1 Gene Mutation, NIPBL, CASZ1, UBE3A, RALGAPB, PURA, Mineralocorticoid Receptor, 3q29 Duplications, FMR1, SLC9A6 (NHE6), SPAST, 16P11.2 Deletion Syndrome, PACS1, MAP2K2 Gene Mutation, 16p13.3 Deletion, ALDH5A1, HNRNPU, SMARCA4 (BAF190), PPP3CA (PPP2B), ZBTB20, Daughter, BCL11A, Proto-Oncogene Proteins p21(ras), 15q11.2-q13.1 Duplications, PHIP, POMGNT1, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability, Xq28 Duplication, NRXN3, 15Q13.3 Deletion Syndrome, TRIO, MECP2-Related Severe Neonatal Encephalopathy, DSCAM, PTEN Gene Mutation, FOXG1 Syndrome, DHCR7, 15q11.2 BP1-BP2 Deletion, KATNAL2, PTEN, DNMT3A, KMT5B (Previously SUV420H1), 17Q12 Microdeletion Syndrome (Disorder), ADNP, NLGN2, MAGEL2, PSMD12, MAP2K1 Gene Mutation, RFX3, TLK2, 5q15 Deletions, 16p11.2 Deletions, GRIN2B, BAZ2B, TAOK1, NBEA, 17Q21.31 Deletion Syndrome, CHD8, HRAS Gene Mutation, PHF21A, SYNGAP1, TBCK, 8P23.1 Duplication Syndrome, KMT5B, 15Q24 Deletion, RELN, GNB1, BRAF Gene Mutation, MED13L, KCNQ2-Related Epileptic Encephalopathy, SRCAP, ACTL6B, BRSK2, SHANK2, WAC, 2q37.3 Deletion, 16p12.1 Deletions, 1q21.1 Deletions, 17q11.2 Duplications, YY1, DST, DST (Dystonin) Related Epidermolysis Bullosa Simplex, RAF1 Gene Mutation, 16P13.11 Microdeletion Syndrome (Disorder), WDFY3, SLC9A6, NLGN3, GIGYF1, LZTR1, USP9X, EP300 Gene Mutation, AFF2, KMT2C Gene Mutation, ASXL3, SMARCC1, CREBBP Gene Mutation, PTCHD1, KANSL1, KDM5B, Methyl-CpG-Binding Protein 2, 17q21.3 Deletions, IQSEC2-Related Syndromic Intellectual Disability, KMT2C, 17q11.2 Deletions, ATRX, ASXL1 Gene Mutation, SOS2, BCKDK, KAT6A, MBOAT7, CHD3, GIGYF2, ARHGEF9, POGZ, KCNB1, GRIN2D, SHOC2, NF1 Mutation, 16p11.2 Duplications, DDX3X, SCN1A, MEF2C, FOXP1
Clinical Study IdentifierNCT01238250
SponsorSimons Searchlight
Last Modified on3 October 2021


Yes No Not Sure

Inclusion Criteria

Inclusion criteria will be any person of any age with a confirmed genetic
diagnosis, or positive genetic testing results, in any of the following genes
or genomic regions
Gene changes include deletions, or duplications, or both, in the copy number
variants or changes in the single genes mentioned on the list above. This can
include pathogenic, likely pathogenic, and in some cases, variants of unknown
significance, also called VUS
Both biological parents are encouraged to participate. Participants must be
able to speak and read English or Spanish fluently
Any person who have features of autism and has had genetic testing and a known
genetic diagnosis may be eligible to participate. Contact the study team for
more information

Exclusion Criteria

Exclusion criteria will include people who do not have the CNVs or genetic
variants in the genes specified above, or people who do not speak and read
English or Spanish
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How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer  to help accelerate the development of new treatments and to get notified about similar trials.

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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

Learn more

If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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