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

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
Simons Searchlight
Study ID
NCT01238250
Status
Recruiting
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Conditions

  • 15Q13.3 Deletion Syndrome
  • 15Q24 Deletion
  • 15q11.2 BP1-BP2 Deletion
  • 15q15 Deletions
  • 16P11.2 Deletion Syndrome
  • 16P12.2 Microdeletion
  • 16P13.11 Microdeletion Syndrome (Disorder)
  • 16p11.2 Duplications
  • 16p11.2 Triplications
  • 16p13.3 Deletion
  • 17Q11.2 Microduplication Syndrome (Disorder)
  • 17Q12 Duplication Syndrome
  • 17Q12 Microdeletion Syndrome (Disorder)
  • 17Q21.31 Deletion Syndrome
  • 17p13.3
  • 17q21.3 Duplications
  • 1Q21.1 Deletion
  • 1Q21.1 Microduplication Syndrome (Disorder)
  • 2Q37 Deletion Syndrome
  • 2p16.3 Deletions
  • 2q34 Duplication
  • 2q37.3 Deletion
  • 5P Deletion Syndrome
  • 5q35 Deletions
  • 5q35 Duplications
  • 6q16 Deletion
  • 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
  • BRSK2
  • CACNA1C
  • CAPRIN1
  • CASK
  • CASZ1
  • CHAMP1
  • CHD2
  • CHD3
  • CHD8
  • CIC
  • CLCN4
  • CNOT3
  • CREBBP Gene Mutation
  • CSDE1
  • CSNK2A1
  • CSNK2B
  • CTBP1
  • CTCF
  • CTNNB1 Gene Mutation
  • CUL3
  • DDX3X
  • DEAF1
  • DHCR7
  • DLG4
  • DNMT3A
  • DSCAM
  • DYNC1H1
  • DYRK1A
  • EBF3
  • EHMT1
  • EIF3F
  • EP300 Gene Mutation
  • FOXP1
  • GIGYF1
  • GNB1
  • GRIN1
  • GRIN2A
  • GRIN2B
  • GRIN2D
  • HECW2
  • HIVEP2-Related Intellectual Disability
  • HNRNPC
  • HNRNPD
  • HNRNPH2
  • HNRNPK
  • HNRNPR
  • HNRNPU
  • HNRNPUL2
  • IQSEC2-Related Syndromic Intellectual Disability
  • IRF2BPL
  • KANSL1
  • KATNAL2
  • KCNB1
  • KDM3B
  • KDM5B
  • KDM6B
  • KMT2A
  • KMT2C Gene Mutation
  • KMT2E
  • KMT5B
  • MAOA
  • MAOB
  • MBD5
  • MBOAT7
  • MED13
  • MED13L
  • MEF2C
  • MEIS2
  • MYT1L
  • NAA15
  • NBEA
  • NCKAP1
  • NEXMIF
  • NIPBL
  • NLGN2
  • NLGN3
  • NLGN4X
  • NR3C2
  • NR4A2
  • NRXN1
  • NRXN2
  • NSD1 Gene Mutation
  • PACS1
  • PACS2
  • PHF21A
  • PHF3
  • PHIP
  • POMGNT1
  • PPP2R1A
  • PPP2R5D-Related Intellectual Disability
  • PPP3CA
  • PSMD12
  • PTCHD1
  • RALGAPB
  • RELN
  • RERE
  • REST
  • RFX3
  • RIMS1
  • RORB
  • SCN1A
  • SCN1B
  • 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
  • SYNGAP1-Related Intellectual Disability
  • TANC2
  • TAOK1
  • TBR1
  • TCF20
  • TCF7L2 Gene Mutation
  • TLK2
  • TRIO
  • TRIP12
  • UPF3B
  • USP9X
  • VPS13B
  • WAC
  • WDFY3
  • Xp11.22 Duplication
  • Xq28 Duplication
  • YY1
  • ZBTB20
  • ZNF292
  • ZNF462

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Oct 31, 2010
Status verified
Jun 2025
Primary completion
Oct 31, 2050
Completion
Oct 31, 2050

Study Design

Enrollment
100,000 participants (estimated)

Arms

  • Arm: Copy Number Variants
    Individuals with documented pathogenic or likely pathogenic copy number variants related to neurodevelopmental disorders.
  • Arm: Gene Variants
    Individuals with documented pathogenic or likely pathogenic variants in a gene related to neurodevelopmental disorders.

Primary Outcome Measure

Baseline comprehensive collection of medical, behavioral, learning, and developmental information of people who have documented gene changes that are associated with features of autism and other neurodevelopmental disorders. [ Time Frame: Baseline data is collected over the course of one month, on average. ]

Central Contacts

Locations (2)

FacilityCityStateZIPSite coordinators
Boston Children's HospitalBostonMassachusetts02115
Wendy Chung, MD PhD
855-329-5638
Geisinger Health SystemLewisburgPennsylvania17837
Cora Taylor, PhD
855-329-5638

Find similar trials in Boston, MA

By research site
Boston Children's Hospital· Boston, MAGeisinger Health System· Lewisburg, PA

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