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

Recruiting now

Conditions studied: 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

In brief

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.

Key facts

Study ID

NCT01238250

Run by

Simons Searchlight

People needed

100000

Starts

2010-10-01

Expected to finish

2050-10-01

Last updated by the study team

2026-07-23

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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.

Where it is running

• Boston Children's Hospital — Boston, Massachusetts, United States (enrolling)
• Geisinger Health System — Lewisburg, Pennsylvania, United States (enrolling)

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.