Clinical trial NCT01238250: Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Official title: Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: 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
Keywords: 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
Lead sponsor: Simons Searchlight
Sponsor class: OTHER
Collaborators: name: Geisinger Clinic
name: Boston Children's Hospital
name: Simons Foundation
First posted: 2010-11-10
Enrollment: 100000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study continues to enroll and collect data from people who have the copy number variants, also called CNVs, and gene changes, specified above. Data is also collected from matched sibling control subjects and parents.

This study has already collected data on approximately 7,000 participants, including approximately 4,000 carriers. Participants include people who have a gene change and at least one parent or guardian. Participants can also include multiple people who have a gene change and are within the same family. Study aims to enroll up to 100,000 participants.

Brief 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.

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.

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 languages are Spanish, French, and Dutch, with more to come.
* Able to register and participate through our online platform, which can be accessed through any device able to connect to the internet.
* Able and willing to provide consent.

Exclusion Criteria:

-Some genetic changes that we study have regions or variants that are not eligible for our research. This is determined during our laboratory review that is completed by trained and certified genetic counselors. These specific ineligible regions or variants can change frequently.

Primary outcomes:
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.
timeFrame: Baseline data is collected over the course of one month, on average.
Secondary outcomes:
measure: Longitudinal, or long-term, comprehensive collection of medical, behavioral, learning, and developmental information from people who have documented gene changes that are associated with features of autism and other neurodevelopmental disorders.
timeFrame: Repeat data collection will occur on a regular basis and will be obtained over the course of one month, on average
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Lewisburg
country: United States
facility: Geisinger Health System
state: Pennsylvania
Study officials:
affiliation: Geisinger Clinic
name: Cora Taylor, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Boston Children's Hospital
name: Wendy Chung, MD PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. Epub 2008 Jan 9.
citation: Simons Vip Consortium. Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. Neuron. 2012 Mar 22;73(6):1063-7. doi: 10.1016/j.neuron.2012.02.014. Epub 2012 Mar 21.
citation: Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Mace A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Mannik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203.
citation: Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro JE, Faucett WA, Martin CL, Ledbetter DH. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. JAMA Psychiatry. 2015 Feb;72(2):119-26. doi: 10.1001/jamapsychiatry.2014.2147.