Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Recruiting
Observational Study
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
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 100,000 (estimated)
- Sponsor
- Simons Searchlight · Other
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
Check Your Eligibility
About This Trial
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…
Trial Locations
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Eligibility Criteria
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 language…
Contacts