MedDataX Logo

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

NCT ID: NCT01238250

Last Updated: 2025-06-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

100000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-10-31

Study Completion Date

2050-10-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

NCT02381457

22q11 Deletion Syndrome DiGeorge Syndrome Trisomy 21 +8 more
COMPLETED

Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome

NCT00556530

DiGeorge Syndrome 22q11.2 Deletion Syndrome
RECRUITING

Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations

NCT02461446

PTEN ASD Autism +2 more
RECRUITING

Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

NCT06776341

SMN Complex Proteins GEMIN5 Protein, Human Neurodevelopmental Disorders
RECRUITING

Genomic Predictors of Recurrent Pregnancy Loss

NCT05444283

Recurrent Pregnancy Loss
RECRUITING

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

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

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Copy Number Variants

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

No interventions assigned to this group

Gene Variants

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

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Geisinger Clinic

OTHER

Sponsor Role collaborator

Boston Children's Hospital

OTHER

Sponsor Role collaborator

Simons Foundation

OTHER

Sponsor Role collaborator

Simons Searchlight

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Cora Taylor, PhD

Role: PRINCIPAL_INVESTIGATOR

Geisinger Clinic

Wendy Chung, MD PhD

Role: PRINCIPAL_INVESTIGATOR

Boston Children's Hospital

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Geisinger Health System

Lewisburg, Pennsylvania, United States

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

United States

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Simons Searchlight Study Coordinator

Role: CONTACT

[email protected]
855-329-5638

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Wendy Chung, MD PhD

Role: primary

855-329-5638

Cora Taylor, PhD

Role: primary

855-329-5638

References

Explore related publications, articles, or registry entries linked to this study.

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.

Reference Type BACKGROUND
PMID: 18184952 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 22445335 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 23054248 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 25493922 (View on PubMed)

Related Links

Access external resources that provide additional context or updates about the study.

https://simonssearchlight.org/

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

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

Simons Searchlight

Identifier Type: OTHER

Identifier Source: secondary_id

Simons VIP

Identifier Type: OTHER

Identifier Source: secondary_id

Simons VIP Connect

Identifier Type: OTHER

Identifier Source: secondary_id

2023-1257

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

Study of the Genetic Factors Involved in Autism and Related Disorders
NCT04727489 RECRUITING
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
NCT06092346 RECRUITING
Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
NCT06014541 ACTIVE_NOT_RECRUITING
Studies of Autistic Patients: Gene Networks and Clinical Subtypes
NCT01092208 TERMINATED
Susceptibility Genes in Autism Spectrum Disorders
NCT02628808 COMPLETED
Genetic Disease Gene Identification
NCT00916903 TERMINATED
Longitudinal Study of Neurogenetic Disorders
NCT03492060 RECRUITING
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
NCT00004351 COMPLETED
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
NCT07329257 RECRUITING
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461420 ACTIVE_NOT_RECRUITING
Genetics of Epilepsy and Related Disorders
NCT01858285 RECRUITING
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01793168 RECRUITING
Genetic Study to Identify Gene Mutations in Participants Previously Enrolled in Clinical Trial NCI-99-C-0053 Who Have Von Hippel-Lindau Syndrome or Are at Risk for Von Hippel-Lindau Syndrome
NCT00075348 COMPLETED
Prospective Study to Assess Medical Performance of Optical Mapping and Long Read Sequencing in Detecting Numerical and Structural Chromosome Abnormalities
NCT05290051 RECRUITING NA
Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities.
NCT06706934 NOT_YET_RECRUITING
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
NCT01375543 COMPLETED
Prenatal Microarray Follow-Up Study
NCT02160938 COMPLETED
Longitudinal Study of Neurodegenerative Disorders
NCT03333200 RECRUITING
Genome-wide Analysis of Single Nucleotide Polymorphisms of Brain Arteriovenous Malformations and Cerebral Aneurysm
NCT01801488 TERMINATED
Personalized Genomic Research
NCT01294345 COMPLETED
Refining Information Technology Support for Genetics in Medicine
NCT01225978 UNKNOWN
Genetic of Intellectual Deficiency and Autism Spectrum Disorders (RaDiCo-GenIDA)
NCT06871696 RECRUITING
Genetics of Neural Tube Defects
NCT01253746 UNKNOWN
Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
NCT02862808 COMPLETED
Genetic Predisposition in Cerebral Palsy
NCT05317234 RECRUITING NA