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

STXBP1 Encephalopathy With Epilepsy Clinical Trial

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

Status Recruiting

Clinical Trial 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.

Clinical Trial 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. ;

Related Conditions & MeSH terms

• 15Q13.3 Deletion Syndrome
• 15q15 Deletions
• 16P11.2 Deletion Syndrome
• 16p11.2 Duplications
• 16p11.2 Triplications
• 16P12.2 Microdeletion
• 16P13.11 Microdeletion Syndrome (Disorder)
• 17Q12 Duplication Syndrome
• 17Q12 Microdeletion Syndrome (Disorder)
• 17q21.3 Duplications
• 17Q21.31 Deletion Syndrome
• 1Q21.1 Deletion
• 1Q21.1 Microduplication Syndrome (Disorder)
• 2p16.3 Deletions
• 2Q37 Deletion Syndrome
• 5q35 Deletions
• 5q35 Duplications
• 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
• Brain Diseases
• BRSK2
• CACNA1C
• CAPRIN1
• CASK
• CASZ1
• CHAMP1
• CHD2
• CHD3
• CHD8
• CIC
• CNOT3
• CREBBP Gene Mutation
• Cri-du-Chat Syndrome
• CSDE1
• CSNK2A1
• CTBP1
• CTCF
• CTNNB1 Gene Mutation
• CUL3
• DDX3X
• DEAF1
• DHCR7
• DLG4
• DNMT3A
• DSCAM
• DYRK1A
• EBF3
• EHMT1
• EP300 Gene Mutation
• FOXP1
• GIGYF1
• GRIN1
• GRIN2A
• GRIN2B
• GRIN2D
• HIVEP2-Related Intellectual Disability
• HNRNPH2
• HNRNPU
• Intellectual Disability
• IQSEC2-Related Syndromic Intellectual Disability
• IRF2BPL
• KANSL1
• KATNAL2
• KCNB1
• KDM3B
• KDM5B
• KDM6B
• KMT2A
• KMT2C Gene Mutation
• KMT2E
• KMT5B
• MBD5
• MBOAT7
• MED13L
• MEIS2
• MYT1L
• NAA15
• NBEA
• NCKAP1
• NEXMIF
• NIPBL
• NLGN2
• NLGN3
• NLGN4X
• NR3C2
• NR4A2
• NRXN1
• NRXN2
• NSD1 Gene Mutation
• PACS1
• PHF21A
• PHF3
• PHIP
• POMGNT1
• PPP2R1A
• PPP2R5D-Related Intellectual Disability
• PPP3CA
• PSMD12
• PTCHD1
• RELN
• RERE
• REST
• RFX3
• RIMS1
• RORB
• SCN1A
• 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
• Syndrome
• SYNGAP1-Related Intellectual Disability
• TANC2
• TAOK1
• TBR1
• TCF20
• TLK2
• TRIO
• TRIP12
• UPF3B
• USP9X
• VPS13B
• WAC
• WDFY3
• ZBTB20
• ZNF292
• ZNF462

• NCT number: NCT01238250
• Study type: Observational
• Source: Simons Searchlight
• Contact: Simons Searchlight Study Coordinator
• Phone: 855-329-5638
• Email: coordinator@SimonsSearchlight.org
• Status: Recruiting
• Start date: October 2010
• Completion date: October 2050