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

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ClinicalTrials.gov Identifier: NCT01238250

Recruitment Status : Recruiting

First Posted : November 10, 2010

Last Update Posted : January 10, 2023

See Contacts and Locations

View this study on Beta.ClinicalTrials.gov

Sponsor:

Collaborators:

Geisinger Clinic

Columbia University

Simons Foundation

Information provided by (Responsible Party):

Simons Searchlight

Study Description

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.

Condition or disease
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 DST (Dystonin) Related Epidermolysis Bullosa Simplex DYRK1A FOXP1 GRIN2A GRIN2B HIVEP2-Related Intellectual Disability HNRNPH2 KATNAL2 KDM5B KDM6B KMT2C Gene Mutation KMT2E KMT5B MBD5 MED13L PACS1 PBRM1 PPP2R5D-Related Intellectual Disability PTCHD1 REST SCN2A Encephalopathy SETBP1 Gene Mutation SETD5 SMARCA4 Gene Mutation SMARCC1 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 BAZ2B BCKDK BRSK2 CACNA1C CAPRIN1 CASK CASZ1 CHD3 CIC CNOT3 CREBBP Gene Mutation CSDE1 CTCF DEAF1 DHCR7 DLG4 DMPK EBF3 EHMT1 EP300 Gene Mutation GIGYF1 GIGYF2 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 NRXN3 NSD1 Gene Mutation PHF21A PHF3 PHIP POMGNT1 PSMD12 RELN RERE RFX3 RIMS1 RORB SCN1A SCN8A Encephalopathy SETD2 Gene Mutation SHANK2 SIN3A SLC9A6 SON SOX5 SPAST SRCAP TAOK1 TANC2 TCF20 TLK2 TRIO TRIP12 TSHZ3 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

Condition or disease

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 DST (Dystonin) Related Epidermolysis Bullosa Simplex DYRK1A FOXP1 GRIN2A GRIN2B HIVEP2-Related Intellectual Disability HNRNPH2 KATNAL2 KDM5B KDM6B KMT2C Gene Mutation KMT2E KMT5B MBD5 MED13L PACS1 PBRM1 PPP2R5D-Related Intellectual Disability PTCHD1 REST SCN2A Encephalopathy SETBP1 Gene Mutation SETD5 SMARCA4 Gene Mutation SMARCC1 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 BAZ2B BCKDK BRSK2 CACNA1C CAPRIN1 CASK CASZ1 CHD3 CIC CNOT3 CREBBP Gene Mutation CSDE1 CTCF DEAF1 DHCR7 DLG4 DMPK EBF3 EHMT1 EP300 Gene Mutation GIGYF1 GIGYF2 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 NRXN3 NSD1 Gene Mutation PHF21A PHF3 PHIP POMGNT1 PSMD12 RELN RERE RFX3 RIMS1 RORB SCN1A SCN8A Encephalopathy SETD2 Gene Mutation SHANK2 SIN3A SLC9A6 SON SOX5 SPAST SRCAP TAOK1 TANC2 TCF20 TLK2 TRIO TRIP12 TSHZ3 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

Detailed Description:

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.

Study Design

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Study Type :	Observational
Estimated Enrollment :	5000 participants
Observational Model:	Family-Based
Time Perspective:	Prospective
Official Title:	Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Study Start Date :	October 2010
Estimated Primary Completion Date :	October 2050
Estimated Study Completion Date :	October 2050

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: 2q37 deletion syndrome 1q21.1 microdeletion CASK-related intellectual disability Epidermolysis bullosa simplex STXBP1 encephalopathy Koolen-de Vries syndrome 16p12.2 microdeletion Epidermolysis bullosa with pyloric atresia 17q12 deletion syndrome 16p11.2 duplication 17q12 duplication PPP2R5D-related intellectual disability HIVEP2-related intellectual disability SCN8A-related epilepsy with encephalopathy SYNGAP1-related intellectual disability 16p11.2 deletion syndrome

MedlinePlus related topics: Genes and Gene Therapy

Genetic and Rare Diseases Information Center resources: Epidermolysis Bullosa Rubinstein-Taybi Syndrome Early Infantile Epileptic Encephalopathy 4 Epidermolysis Bullosa Simplex Sotos Syndrome 16p11.2 Deletion Syndrome Muscle Eye Brain Disease 16p11.2 Duplication 1q21.1 Microdeletion Syndrome Chromosome 1q21.1 Duplication Syndrome HIVEP2-related Intellectual Disability 15q13.3 Microdeletion Syndrome 17q12 Deletion Syndrome 17q12 Duplication Koolen De Vries Syndrome IQSEC2 SCN8A Encephalopathy 2q37 Deletion Syndrome

U.S. FDA Resources

Groups and Cohorts

Group/Cohort
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.

Outcome Measures

Primary Outcome Measures :

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. [ Time Frame: Baseline data is collected over the course of one month, on average. ]
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.

Secondary Outcome Measures :

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. [ Time Frame: Repeat data collection will occur on a regular basis and will be obtained over the course of one month, on average ]
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.

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.

Eligibility Criteria

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:	Child, Adult, Older Adult
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
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.

Criteria

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.

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01238250

Contacts

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Contact: Simons Searchlight Study Coordinator	855-329-5638	coordinator@SimonsSearchlight.org

Locations

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United States, New York
CUMC/New York-Presbyterian Morgan Stanley Children's Hospital	Recruiting
New York, New York, United States, 10032
Contact: Wendy Chung, MD PhD 212-305-5890
United States, Pennsylvania
Geisinger Health System	Recruiting
Lewisburg, Pennsylvania, United States, 17837
Contact: Cora Taylor, PhD 570-522-9430

Sponsors and Collaborators

Simons Searchlight

Geisinger Clinic

Columbia University

Simons Foundation

Investigators

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Principal Investigator:	Cora Taylor, PhD	Geisinger Clinic
Principal Investigator:	Wendy Chung, MD PhD	CUMC/New York-Presbyterian Morgan Stanley Children's Hospital

More Information

Additional Information:

Visit our website to register and for more information on this research study. This link exits the ClinicalTrials.gov site

Publications:

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.

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.

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. Erratum In: J Med Genet. 2014 Jul;51(7):478.

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.

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Responsible Party:	Simons Searchlight
ClinicalTrials.gov Identifier:	NCT01238250
Other Study ID Numbers:	2011-0320 Simons Searchlight ( Other Identifier: Simons Foundation ) Simons VIP ( Other Identifier: Simons Foundation ) Simons VIP Connect ( Other Identifier: Simons Foundation )
First Posted:	November 10, 2010 Key Record Dates
Last Update Posted:	January 10, 2023
Last Verified:	January 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:	Yes
Plan Description:	Identifiers will be removed from data which will be stored in a secure database; qualified researchers can request access through the Simons Foundation Autism Research Initiative (www.SFARI.org)

Keywords provided by Simons Searchlight:


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

Additional relevant MeSH terms:

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Brain Diseases Intellectual Disability Epidermolysis Bullosa Epidermolysis Bullosa Simplex Disease Syndrome Pathologic Processes Central Nervous System Diseases Nervous System Diseases Neurobehavioral Manifestations	Neurologic Manifestations Neurodevelopmental Disorders Mental Disorders Skin Abnormalities Congenital Abnormalities Skin Diseases, Genetic Genetic Diseases, Inborn Skin Diseases Skin Diseases, Vesiculobullous

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