Recruiting

Genetic Changes

Sponsor:

Simons Searchlight

Code:

NCT01238250

Conditions

16P11.2 Deletion Syndrome

16p11.2 Duplications

1Q21.1 Deletion

1Q21.1 Microduplication Syndrome (Disorder)

ACTL6B

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

16P11.2 Deletion Syndrome

16p11.2 Duplications

1Q21.1 Deletion

1Q21.1 Microduplication Syndrome (Disorder)

ACTL6B

Study ID

NCT01238250

Start date

Oct, 2010

Status verified date

Jul, 2026

Completion date

Oct, 2050

Anticipated

Primary completion date

Oct, 2050

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not 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.

Study Design

Enrollment

100000 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

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

Central Contacts and Locations

Central contacts

Simons Searchlight Study Coordinator

855-329-5638coordinator@SimonsSearchlight.org

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Wendy Chung, MD PhD

855-329-5638

Geisinger Health System

Recruiting

Lewisburg, Pennsylvania, United States, 17837

Contacts

Cora Taylor, PhD

855-329-5638

More Information

Sponsor

Simons Searchlight

Last update posted

Jul 23, 2026

Last verified

Jul, 2026

Keywords

  • 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
  • BCL11A
  • CHD2
  • CHD8
  • CTNNB1
  • CUL3
  • DYRK1A
  • FOXP1
  • GRIN2B
  • KDM6B
  • KMT2E
  • MBD5
  • MED13L
  • REST
  • SCN2A
  • SMARCC2
  • SYNGAP1
  • HIVEP2
  • HNRNPH2
  • PPP2R5D
  • CHAMP1
  • CSNK2A1
  • CTBP1
  • DDX3X
  • DNMT3A
  • DSCAM
  • GRIN2A
  • KATNAL2
  • KDM5B
  • KMT2C
  • KMT5B
  • SUV420H1
  • PACS1
  • PTCHD1
  • SETBP1
  • SETD5
  • SMARCA4
  • STXBP1
  • TBR1
  • ARHGEF9
  • HNRNPU
  • PPP2B
  • PPP2R1A
  • SLC6A1
  • PACS2
  • MAOA
  • MAOB
  • HNRNPC
  • HNRNPD
  • HNRNPK
  • HNRNPR
  • HNRNPUL2
  • 5P Deletion Syndrome
  • TCF7L2
  • HECW2
  • PPM1D
  • RNU4-2
  • SNAP25
  • FOXP2
  • ITSN1

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Simons Searchlight on 2026-07-23.