Clinical Trial


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


Brief description

Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have gene changes that are linked to autism and other neurodevelopmental disorders. 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.

Detailed 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.

Keywords

  •   NRXN1
  •   NRXN2
  •   NRXN3
  •   NLGN2
  •   NLGN3
  •   NLGN4X
  •   NR4A2
  •   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
  •   DST (Dystonin) Related Epidermolysis Bullosa Simplex
  •   DYRK1A
  •   FOXP1
  •   GRIN2A
  •   GRIN2B
  •   HIVEP2-Related Intellectual Disability
  •   HNRNPH2
  •   KATNAL2
  •   KDM5B
  •   KDM6B
  •   KMT2C Gene Mutation
  •   KMT2E
  •   KMT5B
  •   MBD5
  •   MED13L
  •   PACS1
  •   PBRM1
  •   PPP2R5D-Related Intellectual Disability
  •   PTCHD1
  •   REST
  •   SCN2A Encephalopathy
  •   SETBP1 Gene Mutation
  •   SETD5
  •   SMARCA4 Gene Mutation
  •   SMARCC1
  •   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
  •   BAZ2B
  •   BCKDK
  •   BRSK2
  •   CACNA1C
  •   CAPRIN1
  •   CASK
  •   CASZ1
  •   CHD3
  •   CIC
  •   CNOT3
  •   CREBBP Gene Mutation
  •   CSDE1
  •   CTCF
  •   DEAF1
  •   DHCR7
  •   DLG4
  •   DMPK
  •   EBF3
  •   EHMT1
  •   EP300 Gene Mutation
  •   GIGYF1
  •   GIGYF2
  •   GRIN1
  •   GRIN2D
  •   IQSEC2-Related Syndromic Intellectual Disability
  •   IRF2BPL
  •   KANSL1
  •   KCNB1
  •   KDM3B
  •   NEXMIF
  •   KMT2A
  •   MBOAT7
  •   MEIS2
  •   MYT1L
  •   NAA15
  •   NBEA
  •   NCKAP1
  •   NIPBL
  •   NSD1 Gene Mutation
  •   PHF21A
  •   PHF3
  •   PHIP
  •   POMGNT1
  •   PSMD12
  •   RELN
  •   RERE
  •   RFX3
  •   RIMS1
  •   RORB
  •   SCN1A
  •   SCN8A Encephalopathy
  •   SETD2 Gene Mutation
  •   SHANK2
  •   SIN3A
  •   SLC9A6
  •   SON
  •   SOX5
  •   SPAST
  •   SRCAP
  •   TAOK1
  •   TANC2
  •   TCF20
  •   TLK2
  •   TRIO
  •   TRIP12
  •   TSHZ3
  •   UPF3B
  •   USP9X
  •   VPS13B
  •   WAC
  •   WDFY3
  •   ZBTB20
  •   ZNF292
  •   ZNF462
  •   2Q37 Deletion Syndrome
  •   9q34 Duplications
  •   15q15 Deletions
  •   15Q24 Deletion
  •   NR3C2
  •   SYNCRIP
  •   Additional Genetic Changes Associated With Autism May be Added as Identified
  •   2q34 Duplication
  •   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

Sponsored By

Simons Searchlight

Unique Study ID

NCT01238250

Investigators and Research Sites Near You - Found( 3 )

No Investigator Listed

NYU Langone Health
10016, New York, New York, United States
Distance from Current Trial is 0 miles

No Investigator Listed

Icahn School of Medicine at Mount Sinai
10029, New York, New York, United States
Distance from Current Trial is 0 miles

No Investigator Listed

W.L.Gore & Associates
10029, New York, New York, United States
Distance from Current Trial is 0 miles
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