RECRUITING

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

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Conditions

16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion1Q21.1 Microduplication Syndrome (Disorder)ACTL6BADNPAHDC1ANK2ANKRD11ARID1BASH1LBCL11ACHAMP1CHD2CHD8CSNK2A1CTBP1CTNNB1 Gene MutationCUL3DDX3XDNMT3ADSCAMDYRK1AFOXP1GRIN2AGRIN2BHIVEP2-Related Intellectual DisabilityHNRNPH2KATNAL2KDM5BKDM6BKMT2C Gene MutationKMT2EKMT5BMBD5MED13LPACS1PPP2R5D-Related Intellectual DisabilityPTCHD1RESTSCN2A EncephalopathySETBP1 Gene MutationSETD5SMARCA4 Gene MutationSMARCC2STXBP1 Encephalopathy With EpilepsySYNGAP1-Related Intellectual DisabilityTBR1ARHGEF9HNRNPUPPP3CAPPP2R1ASLC6A12p16.3 Deletions5q35 Deletions5q35 Duplications7q11.23 Duplications15Q13.3 Deletion Syndrome16p11.2 Triplications16P12.2 Microdeletion16P13.11 Microdeletion Syndrome (Disorder)17Q12 Microdeletion Syndrome (Disorder)17Q12 Duplication Syndrome17Q21.31 Deletion Syndrome17q21.3 DuplicationsACTBADSLAFF2ALDH5A1ANK3ARXATRX Gene MutationAUTS2 SyndromeBCKDKBRSK2CACNA1CCAPRIN1CASKCASZ1CHD3CICCNOT3CREBBP Gene MutationCSDE1CTCFDEAF1DHCR7DLG4EBF3EHMT1EP300 Gene MutationGIGYF1GRIN1GRIN2DIQSEC2-Related Syndromic Intellectual DisabilityIRF2BPLKANSL1KCNB1KDM3BNEXMIFKMT2AMBOAT7MEIS2MYT1LNAA15NBEANCKAP1NIPBLNLGN2NLGN3NLGN4XNR4A2NRXN1NRXN2NSD1 Gene MutationPHF21APHF3PHIPPOMGNT1PSMD12RELNRERERFX3RIMS1RORBSCN1ASETD2 Gene MutationSHANK2SIN3ASLC9A6SONSOX5SPASTSRCAPTAOK1TANC2TCF20TLK2TRIOTRIP12UPF3BUSP9XVPS13BWACWDFY3ZBTB20ZNF292ZNF4622Q37 Deletion Syndrome9q34 Duplications15q15 Deletions15Q24 DeletionNR3C2SYNCRIP2q34 Duplication2q37.3 Deletion6q16 Deletion15q11.2 BP1-BP2 Deletion16p13.3 Deletion17Q11.2 Microduplication Syndrome (Disorder)17p13.3Xq28 DuplicationCLCN4CSNK2BDYNC1H1EIF3FGNB1MED13MEF2CRALGAPBSCN1BYY1Xp11.22 DuplicationPACS2MAOAMAOBHNRNPCHNRNPDHNRNPKHNRNPRHNRNPUL25P Deletion SyndromeTCF7L2 Gene MutationHECW216p11.216p11.2 del16p11.2 deletion16p11.2 dup16p11.2 duplicationchromosome 16chromosome 16pchromosome 16p11chromosome 16p11.21q21.11q21.1 del1q21.1 dup1q21.1 duplicationchromosome 1chromosome 1qchromosome 1q21chromosome 1q21.1genetic mutationgenetic variantgene variantASXL3BAF190CTNNB1SCN2ASYNGAP1HIVEP2PPP2R5DKMT2CSUV420H1SETBP1SMARCA4STXBP1PPP2BTCF7L2

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2010-10
Study Completion:2050-10
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01238250

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * 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/
  2. * Must be fluent in English or a supported language. Current supported languages are Spanish, French, and Dutch, with more to come.
  3. * Able to register and participate through our online platform, which can be accessed through any device able to connect to the internet.
  4. * Able and willing to provide consent.
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Contact

Simons Searchlight Study Coordinator
CONTACT
855-329-5638
coordinator@SimonsSearchlight.org

Principal Investigator

Cora Taylor, PhD
PRINCIPAL_INVESTIGATOR
Geisinger Clinic
Wendy Chung, MD PhD
PRINCIPAL_INVESTIGATOR
Boston Children's Hospital

Study Locations (Sites)

Boston Children's Hospital
Boston, Massachusetts, 02115
United States
Geisinger Health System
Lewisburg, Pennsylvania, 17837
United States

Collaborators and Investigators

Sponsor: Simons Searchlight

  • Cora Taylor, PhD, PRINCIPAL_INVESTIGATOR, Geisinger Clinic
  • Wendy Chung, MD PhD, PRINCIPAL_INVESTIGATOR, Boston Children's Hospital

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2010-10
Study Completion Date2050-10

Study Record Updates

Study Start Date2010-10
Study Completion Date2050-10

Terms related to this study

Keywords Provided by Researchers

  • 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

Additional Relevant MeSH Terms

  • 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
  • POMGNT1
  • 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
  • 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
  • PACS2
  • MAOA
  • MAOB
  • HNRNPC
  • HNRNPD
  • HNRNPK
  • HNRNPR
  • HNRNPUL2
  • 5P Deletion Syndrome
  • TCF7L2 Gene Mutation
  • HECW2