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

NCT01238250 | Recruiting

• 4 other identifiers: 2023-1257Simons SearchlightSimons VIPSimons VIP Connect
• Study Type: observational
• Target: 100,000
• Locations: 1 country
• Sites: 2

Brief 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.

Conditions

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; 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; 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

Keywords

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

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• 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.

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

Study Arms (2)

Copy Number Variants

Individuals with documented pathogenic or likely pathogenic copy number variants related to neurodevelopmental disorders.

Gene Variants

Individuals with documented pathogenic or likely pathogenic variants in a gene related to neurodevelopmental disorders.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study continues to enroll and collect data from people who have the copy number variants, also called CNVs, and gene changes, specified above. Data is also collected from matched sibling control subjects and parents. This study has already collected data on approximately 7,000 participants, including approximately 4,000 carriers. Participants include people who have a gene change and at least one parent or guardian. Participants can also include multiple people who have a gene change and are within the same family. Study aims to enroll up to 100,000 participants.

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.

Sponsors & Collaborators

• Simons Searchlight: lead
• Geisinger Clinic: collaborator
• Boston Children's Hospital: collaborator
• Simons Foundation: collaborator

Study Sites (2)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Geisinger Health System

Lewisburg, Pennsylvania, 17837, United States

RECRUITING

Related Publications (4)

• Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9.

  PMID: 18184952 BACKGROUND

• Simons Vip Consortium. Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. Neuron. 2012 Mar 22;73(6):1063-7. doi: 10.1016/j.neuron.2012.02.014. Epub 2012 Mar 21.

  PMID: 22445335 BACKGROUND

• Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Mace A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Mannik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203.

  PMID: 23054248 BACKGROUND

• Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro JE, Faucett WA, Martin CL, Ledbetter DH. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. JAMA Psychiatry. 2015 Feb;72(2):119-26. doi: 10.1001/jamapsychiatry.2014.2147.

  PMID: 25493922 BACKGROUND

Related Links

• Visit our website to register and for more information on this research study.

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood, and sometimes saliva, may be collected for the purposes of DNA analysis. Some samples will be used to establish a cell line to be used for research-related purposes.

MeSH Terms

Conditions

16p11.2 Deletion Syndrome; Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb; Chromosome 1q21.1 Duplication Syndrome; Hereditary Sensory and Autonomic Neuropathies; Epileptic Encephalopathy, Early Infantile, 4; Cornea Plana 1; Chromosome 15q13.3 Microdeletion Syndrome; Chromosome 17q21.31 Deletion Syndrome; Walker-Warburg Syndrome; Chromosome 2q37 deletion syndrome; 15q24 Microdeletion; Cri-du-Chat Syndrome; Rhabdoid Tumor Predisposition Syndrome 2

Condition Hierarchy (Ancestors)

Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Cobblestone Lissencephaly; Lissencephaly; Malformations of Cortical Development, Group II; Malformations of Cortical Development; Eye Diseases, Hereditary; Eye Diseases; Muscular Dystrophies; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Abnormalities, Multiple; Chromosome Disorders

Study Officials

• Cora Taylor, PhD

  Geisinger Clinic

  PRINCIPAL INVESTIGATOR

• Wendy Chung, MD PhD

  Boston Children's Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Simons Searchlight Study Coordinator

CONTACT

855-329-5638; coordinator@SimonsSearchlight.org

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 9, 2010
• First Posted: November 10, 2010
• Study Start: October 1, 2010
• Primary Completion (Estimated): October 1, 2050
• Study Completion (Estimated): October 1, 2050
• Last Updated: June 6, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will share

Locations

US (2)