RecruitingNCT01238250

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

Sponsor

Simons Searchlight

Enrollment

100,000 participants

Start Date

Oct 1, 2010

Study Type

OBSERVATIONAL

Conditions

SYNGAP1-Related Intellectual Disability DLG4 FOXP1 WAC DDX3X GRIN1 GRIN2A GRIN2B GRIN2D ADNP 16P11.2 Deletion Syndrome 16p11.2 Duplications 1Q21.1 Deletion 1Q21.1 Microduplication Syndrome (Disorder)ACTL6B AHDC1 ANK2 ANKRD11 ARID1B ASH1L BCL11A CHAMP1 CHD2 CHD8 CSNK2A1 CTBP1 CTNNB1 Gene Mutation CUL3 DNMT3A DSCAM DYRK1A 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 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 EBF3 EHMT1 EP300 Gene Mutation GIGYF1 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 POMGNT1 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 WDFY3 ZBTB20 ZNF292 ZNF462 2Q37 Deletion Syndrome 9q34 Duplications 15q15 Deletions 15Q24 Deletion NR3C2 SYNCRIP 2q34 Duplication 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

Summary

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.

Eligibility

Plain Language Summary

Simplified for easier understanding

Simons Searchlight is an online research program for individuals with specific genetic changes linked to neurodevelopmental conditions such as autism spectrum disorder. Families participate entirely online — completing surveys and questionnaires — to help researchers understand how these genetic conditions affect development, behavior, and health across a person's lifetime. The study supports people of all ages. You may be eligible if... - You or your child has a genetic change on Simons Searchlight's current eligible conditions list (available at simonssearchlight.org) - You include biological family members of individuals with the eligible genetic condition - You or your family is fluent in English, Spanish, French, or Dutch - You are able to participate through an internet-connected device You may NOT be eligible if... - The specific genetic region or variant is in an ineligible category as determined by certified genetic counselors Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(2)

Boston Children's Hospital

Boston, Massachusetts, United States

Geisinger Health System

Lewisburg, Pennsylvania, United States

View Full Details on ClinicalTrials.gov

For the most up-to-date information, visit the official listing.

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NCT01238250

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