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

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

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

Conditions
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EP300 Gene Mutation, GIGYF1, USP9X, 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, 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, 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, VPS13B, WAC, 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

Participation Criteria
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Eligibility Criteria
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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.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Copy Number Variants<br>Individuals with documented pathogenic or likely pathogenic copy number variants related to neurodevelopmental disorders. | |
| Gene Variants<br>Individuals with documented pathogenic or likely pathogenic variants in a gene related to neurodevelopmental disorders. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 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. | Baseline data is collected over the course of one month, on average. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 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. | Repeat data collection will occur on a regular basis and will be obtained over the course of one month, on average | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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16p11.2, 16p11.2 del, 16p11.2 deletion, 16p11.2 dup, 16p11.2 duplication, chromosome 16, chromosome 16p, chromosome 16p11, chromosome 16p11.2, 1q21.1, 1q21.1 del, 1q21.1 deletion, 1q21.1 dup, 1q21.1 duplication, chromosome 1, chromosome 1q, chromosome 1q21, chromosome 1q21.1, genetic mutation, genetic variant, gene variant, ADNP, ANKRD11, ARID1B, ASXL3, ACTL6B, AHDC1, BAF190, ANK2, ASH1L, BCL11A, CHD2, CHD8, CTNNB1, CUL3, DYRK1A, FOXP1, GRIN2B, KDM6B, KMT2E, MBD5, MED13L, REST, SCN2A, SMARCC2, SYNGAP1, HIVEP2, HNRNPH2, PPP2R5D, CHAMP1, CSNK2A1, CTBP1, DDX3X, DNMT3A, DSCAM, GRIN2A, KATNAL2, KDM5B, KMT2C, KMT5B, SUV420H1, PACS1, PTCHD1, SETBP1, SETD5, SMARCA4, STXBP1, TBR1, ARHGEF9, HNRNPU, PPP2B, PPP2R1A, SLC6A1, PACS2, MAOA, MAOB, HNRNPC, HNRNPD, HNRNPK, HNRNPR, HNRNPUL2, 5P Deletion Syndrome, TCF7L2, HECW2