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

Sponsor

Simons Searchlight (Other)

Overall Status

Recruiting

CT.gov ID

NCT01238250

Collaborator

Geisinger Clinic (Other), Columbia University (Other), Simons Foundation (Other)

5,000

Enrollment

Locations

480

Duration (Months)

2500

Patients Per Site

5.2

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
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 NLGN2 NLGN3 NLGN4X NR4A2 NRXN1 NRXN2 NRXN3 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

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.

Study Design

Study Type:

Observational

Anticipated Enrollment :

5000 participants

Observational Model:

Family-Based

Time Perspective:

Prospective

Official Title:

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

Study Start Date :

Oct 1, 2010

Anticipated Primary Completion Date :

Oct 1, 2050

Anticipated Study Completion Date :

Oct 1, 2050

Arms and Interventions

Arm	Intervention/Treatment
Copy Number Variants Individuals with documented pathogenic or likely pathogenic copy number variants related to autism and other neurodevelopmental disorders.
Gene Variants Individuals with documented pathogenic or likely pathogenic variants in a gene related to autism and other neurodevelopmental disorders.

Outcome Measures

Primary Outcome Measures

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. [Baseline data is collected over the course of one month, on average.]
Families with people who have specific documented gene changes that are associated with features of autism and other neurodevelopmental disorders will report detailed medical and family history information by phone. Online research surveys will be used to collect information about behavioral and learning characteristics, with the goal of improving clinical care and treatment for these people.

Secondary Outcome Measures

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. [Repeat data collection will occur on a regular basis and will be obtained over the course of one month, on average]
To monitor and document the development of people who have gene changes that are related to autism and other neurodevelopmental disorders, online research surveys and updates to the family and medical history will be collected on an annual basis.

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

Inclusion criteria will be any person of any age with a confirmed genetic diagnosis, or positive genetic testing results, in any of the following genes or genomic regions:

Gene changes include deletions, or duplications, or both, in the copy number variants or changes in the single genes mentioned on the list above. This can include pathogenic, likely pathogenic, and in some cases, variants of unknown significance, also called VUS.

Both biological parents are encouraged to participate. Participants must be able to speak and read English or Spanish fluently.

Any person who have features of autism and has had genetic testing and a known genetic diagnosis may be eligible to participate. Contact the study team for more information.

Exclusion Criteria:

Exclusion criteria will include people who do not have the CNVs or genetic variants in the genes specified above, or people who do not speak and read English or Spanish.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	CUMC/New York-Presbyterian Morgan Stanley Children's Hospital	New York	New York	United States	10032
2	Geisinger Health System	Lewisburg	Pennsylvania	United States	17837

Sponsors and Collaborators

Simons Searchlight
Geisinger Clinic
Columbia University
Simons Foundation

Investigators

Principal Investigator: Cora Taylor, PhD, Geisinger Clinic
Principal Investigator: Wendy Chung, MD PhD, CUMC/New York-Presbyterian Morgan Stanley Children's Hospital