Clinical trial · Observational
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
NCT01238250CI-TRIAL-00119036recruitingClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (187)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| 15q11.2 BP1-BP2 Deletion | — | UNRESOLVED | — |
| 15Q13.3 Deletion Syndrome | — | UNRESOLVED | — |
| 15q15 Deletions | — | UNRESOLVED | — |
| 15Q24 Deletion | — | UNRESOLVED | — |
| 16P11.2 Deletion Syndrome | — | UNRESOLVED | — |
| 16p11.2 Duplications | — | UNRESOLVED | — |
| 16p11.2 Triplications | — | UNRESOLVED | — |
| 16P12.2 Microdeletion | — | UNRESOLVED | — |
| 16P13.11 Microdeletion Syndrome (Disorder) | — | UNRESOLVED | — |
| 16p13.3 Deletion | — | UNRESOLVED | — |
| 17p13.3 | — | UNRESOLVED |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (2)
- label
- Copy Number Variants
- description
- Individuals with documented pathogenic or likely pathogenic copy number variants related to neurodevelopmental disorders.
- label
- Gene Variants
- description
- Individuals with documented pathogenic or likely pathogenic variants in a gene related to neurodevelopmental disorders.
Primary outcomes (1)
- measure
- 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.
- timeFrame
- Baseline data is collected over the course of one month, on average.
- description
- 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 outcomes (1)
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
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.
References
Publications (4)
- BACKGROUNDWeiss 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
- BACKGROUNDSimons 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
- BACKGROUNDZufferey 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
- BACKGROUNDMoreno-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