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

Simons Searchlight

Status

Enrolling

Conditions

ADNP

NLGN3

SHANK2

HNRNPU

PHF21A

NEXMIF

CTCF

CSNK2A1

1Q21.1 Deletion

NBEA

SCN2A Encephalopathy

IRF2BPL

CTNNB1 Gene Mutation

WAC

RIMS1

CHD3

ZNF292

NR4A2

NR3C2

TANC2

ANK2

15q11.2 BP1-BP2 Deletion

SETBP1 Gene Mutation

2q34 Duplication

DSCAM

KDM6B

ZBTB20

16p11.2 Triplications

NAA15

SMARCC2

NIPBL

GRIN2D

17Q12 Microdeletion Syndrome (Disorder)

VPS13B

EP300 Gene Mutation

16p11.2 Duplications

KMT5B

MED13

ARHGEF9

2p16.3 Deletions

SCN1B

SOX5

RERE

PSMD12

15q15 Deletions

DYNC1H1

6q16 Deletion

KDM5B

CHAMP1

9q34 Duplications

TCF7L2 Gene Mutation

SMARCA4 Gene Mutation

KATNAL2

GRIN2B

PHF3

16P13.11 Microdeletion Syndrome (Disorder)

EHMT1

ADSL

7q11.23 Duplications

MBD5

KCNB1

IQSEC2-Related Syndromic Intellectual Disability

1Q21.1 Microduplication Syndrome (Disorder)

TBR1

REST

WDFY3

PPP3CA

15Q13.3 Deletion Syndrome

DEAF1

KMT2A

SCN1A

CNOT3

DHCR7

AHDC1

SLC6A1

GRIN1

17Q12 Duplication Syndrome

YY1

ALDH5A1

ARID1B

CACNA1C

MAOA

FOXP1

EBF3

MBOAT7

ATRX Gene Mutation

RFX3

HNRNPC

DDX3X

NLGN2

PPP2R1A

NRXN1

CSDE1

2q37.3 Deletion

17Q21.31 Deletion Syndrome

STXBP1 Encephalopathy With Epilepsy

SPAST

CAPRIN1

PPP2R5D-Related Intellectual Disability

TAOK1

HNRNPR

TRIO

17q21.3 Duplications

GRIN2A

HECW2

EIF3F

5q35 Duplications

SON

HNRNPH2

PTCHD1

MED13L

BCL11A

ASH1L

2Q37 Deletion Syndrome

16P12.2 Microdeletion

USP9X

SRCAP

CASK

5P Deletion Syndrome

KANSL1

PACS1

BRSK2

HNRNPD

GIGYF1

PACS2

MEF2C

5q35 Deletions

SIN3A

ZNF462

PHIP

TCF20

KMT2C Gene Mutation

ANKRD11

15Q24 Deletion

SLC9A6

CTBP1

NLGN4X

CREBBP Gene Mutation

RELN

SETD5

CASZ1

17p13.3

CIC

17Q11.2 Microduplication Syndrome (Disorder)

BCKDK

ARX

NRXN2

DYRK1A

NSD1 Gene Mutation

HIVEP2-Related Intellectual Disability

ACTL6B

Xq28 Duplication

SYNGAP1-Related Intellectual Disability

HNRNPK

UPF3B

GNB1

SYNCRIP

CLCN4

RALGAPB

DLG4

CSNK2B

SETD2 Gene Mutation

TRIP12

NCKAP1

Xp11.22 Duplication

KDM3B

AUTS2 Syndrome

RORB

CHD8

CHD2

CUL3

MYT1L

MAOB

DNMT3A

TLK2

16P11.2 Deletion Syndrome

AFF2

16p13.3 Deletion

ACTB

POMGNT1

MEIS2

HNRNPUL2

KMT2E

ANK3

Study type

Observational

Funder types

Other

Identifiers

NCT01238250

Simons VIP Connect (Other Identifier)

2023-1257

Simons VIP (Other Identifier)

Simons Searchlight (Other Identifier)

Details and patient eligibility

About

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.

Full description

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.

Enrollment

100,000 estimated patients

Sex

All

Volunteers

No Healthy Volunteers

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.