Recruiting OBSERVATIONAL NCT01238250

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

Sponsor: Boston Children's Hospital

Conditions 15Q13.3 Deletion Syndrome 15Q24 Deletion 15q11.2 BP1-BP2 Deletion 15q15 Deletions 16P11.2 Deletion Syndrome 16P12.2 Microdeletion 16P13.11 Microdeletion Syndrome (Disorder) 16p11.2 Duplications 16p11.2 Triplications 16p13.3 Deletion 17Q11.2 Microduplication Syndrome (Disorder) 17Q12 Duplication Syndrome 17Q12 Microdeletion Syndrome (Disorder) 17Q21.31 Deletion Syndrome 17p13.3 17q21.3 Duplications 1Q21.1 Deletion 1Q21.1 Microduplication Syndrome (Disorder) 2Q37 Deletion Syndrome 2p16.3 Deletions 2q34 Duplication 2q37.3 Deletion 5P Deletion Syndrome 5q35 Deletions 5q35 Duplications 6q16 Deletion 7q11.23 Duplications 9q34 Duplications ACTB ACTL6B ADNP ADSL AFF2 AHDC1 ALDH5A1 ANK2 ANK3 ANKRD11 ARHGEF9 ARID1B ARX ASH1L ATRX Gene Mutation AUTS2 Syndrome BCKDK BCL11A BRSK2 CACNA1C CAPRIN1 CASK CASZ1 CHAMP1 CHD2 CHD3 CHD8 CIC CLCN4 CNOT3 CREBBP Gene Mutation CSDE1 CSNK2A1 CSNK2B CTBP1 CTCF CTNNB1 Gene Mutation CUL3 DDX3X DEAF1 DHCR7 DLG4 DNMT3A DSCAM DYNC1H1 DYRK1A EBF3 EHMT1 EIF3F EP300 Gene Mutation FOXP1 GIGYF1 GNB1 GRIN1 GRIN2A GRIN2B GRIN2D HECW2 HIVEP2-Related Intellectual Disability HNRNPC HNRNPD HNRNPH2 HNRNPK HNRNPR HNRNPU HNRNPUL2 IQSEC2-Related Syndromic Intellectual Disability IRF2BPL KANSL1 KATNAL2 KCNB1 KDM3B KDM5B KDM6B KMT2A KMT2C Gene Mutation KMT2E KMT5B MAOA MAOB MBD5 MBOAT7 MED13 MED13L MEF2C MEIS2 MYT1L NAA15 NBEA NCKAP1 NEXMIF NIPBL NLGN2 NLGN3 NLGN4X NR3C2 NR4A2 NRXN1 NRXN2 NSD1 Gene Mutation PACS1 PACS2 PHF21A PHF3 PHIP POMGNT1 PPP2R1A PPP2R5D-Related Intellectual Disability PPP3CA PSMD12 PTCHD1 RALGAPB RELN RERE REST RFX3 RIMS1 RORB SCN1A SCN1B SCN2A Encephalopathy SETBP1 Gene Mutation SETD2 Gene Mutation SETD5 SHANK2 SIN3A SLC6A1 SLC9A6 SMARCA4 Gene Mutation SMARCC2 SON SOX5 SPAST SRCAP STXBP1 Encephalopathy With Epilepsy SYNCRIP SYNGAP1-Related Intellectual Disability TANC2 TAOK1 TBR1 TCF20 TCF7L2 Gene Mutation TLK2 TRIO TRIP12 UPF3B USP9X VPS13B WAC WDFY3 Xp11.22 Duplication Xq28 Duplication YY1 ZBTB20 ZNF292 ZNF462

Updated 21 times since 2017 Last updated: Jun 3, 2025 Started: Oct 31, 2010 Primary completion: Oct 31, 2050 Completion: Oct 31, 2050

This information is for research purposes only and is not medical advice. Consult a healthcare provider before making any medical decision.

This observational or N/A phase trial investigates 15Q13.3 Deletion Syndrome and 15Q24 Deletion and is currently actively recruiting participants. Boston Children's Hospital leads this study, which shows 21 recorded versions since 2010 — indicating substantial longitudinal coverage. Longitudinal tracking of infectious disease trials helps identify durability of treatment effects.

Status Flow

Change History

21 versions recorded

Jul 2025 — Present [monthly]

Recruiting
Sep 2024 — Jul 2025 [monthly]

Recruiting
Jul 2024 — Sep 2024 [monthly]

Recruiting
Feb 2024 — Jul 2024 [monthly]

Recruiting
Oct 2023 — Feb 2024 [monthly]

Recruiting

▶ Show 16 earlier versions

Feb 2023 — Oct 2023 [monthly]

Recruiting
Dec 2022 — Feb 2023 [monthly]

Recruiting
Dec 2021 — Dec 2022 [monthly]

Recruiting
Oct 2021 — Dec 2021 [monthly]

Recruiting
Jan 2021 — Oct 2021 [monthly]

Recruiting
Dec 2020 — Jan 2021 [monthly]

Recruiting
Nov 2020 — Dec 2020 [monthly]

Recruiting
May 2020 — Nov 2020 [monthly]

Recruiting
Mar 2020 — May 2020 [monthly]

Recruiting
Jul 2019 — Mar 2020 [monthly]

Recruiting
Jun 2018 — Jul 2019 [monthly]

Recruiting
May 2018 — Jun 2018 [monthly]

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Apr 2018 — May 2018 [monthly]

Recruiting

Phase: NA → None
Jan 2018 — Apr 2018 [monthly]

Recruiting NA
Aug 2017 — Jan 2018 [monthly]

Recruiting NA
Jan 2017 — Aug 2017 [monthly]

Recruiting NA

First recorded

Oct 2010

Trial started

Per CT.gov start date — pre-dates our first snapshot

Eligibility Summary

No eligibility information available.

Contact Information

Sponsor contact:

Boston Children's Hospital
Geisinger Clinic
Simons Foundation
Simons Searchlight

Data source: Simons Searchlight

For direct contact, visit the study record on ClinicalTrials.gov .

Study Locations

• Boston, United States
• Lewisburg, United States