Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Public ClinicalTrials.gov record NCT01238250. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT01238250
- Recruitment status
- Recruiting
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 100,000 participants
Conditions and interventions
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
- 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
- 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
- PPM1D
- RNU4-2
- SNAP25
- FOXP2
- ITSN1
Interventions
Not listed
Eligibility (public fields only)
- Age range
- Not listed
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Sep 30, 2010
- Primary completion
- Sep 30, 2050
- Completion
- Sep 30, 2050
- Last update posted
- Jul 22, 2026
2010 – 2050
United States locations
- U.S. sites
- 2
- U.S. states
- 2
- U.S. cities
- 2
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Boston Children's Hospital | Boston | Massachusetts | 02115 | Recruiting |
| Geisinger Health System | Lewisburg | Pennsylvania | 17837 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT01238250, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Jul 22, 2026 · Synced Sep 5, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT01238250 live on ClinicalTrials.gov.