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

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ClinicalTrials.gov Identifier: NCT01238250
Recruitment Status : Recruiting
First Posted : November 10, 2010
Last Update Posted : November 23, 2020
Sponsor:
Collaborators:
Geisinger Clinic
Columbia University
Simons Foundation
Information provided by (Responsible Party):
Simons Searchlight

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
16P11.2 Deletion Syndrome 16p11.2 Duplications 1Q21.1 Deletion 1Q21.1 Microduplication Syndrome (Disorder) ACTL6B ADNP AHDC1 ANK2 ANKRD11 ARID1B ASH1L ASXL1 Gene Mutation 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 MED12 Gene Mutation 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 5q15 Deletions 5q24 Deletions NR3C2 SYNCRIP 15q15 Deletions Additional Genetic Changes Associated With Autism May be Added as Identified

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.

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Study Type : Observational
Estimated 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 : October 2010
Estimated Primary Completion Date : October 2050
Estimated Study Completion Date : October 2050


Group/Cohort
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.



Primary Outcome Measures :
  1. 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. ]
    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 :
  1. 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. [ Time Frame: 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.


Biospecimen Retention:   Samples With DNA
Whole blood, and sometimes saliva, may be collected for the purposes of DNA analysis. Some samples will be used to establish a cell line to be used for research-related purposes.


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

Criteria

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.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01238250


Contacts
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Contact: Simons Searchlight Study Coordinator 855-329-5638 coordinator@SimonsSearchlight.org

Locations
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United States, New York
CUMC/New York-Presbyterian Morgan Stanley Children's Hospital Recruiting
New York, New York, United States, 10032
Contact: Wendy Chung, MD PhD    212-305-5890      
United States, Pennsylvania
Geisinger Health System Recruiting
Lewisburg, Pennsylvania, United States, 17837
Contact: Cora Taylor, PhD    570-522-9430      
Sponsors and Collaborators
Simons Searchlight
Geisinger Clinic
Columbia University
Simons Foundation
Investigators
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Principal Investigator: Cora Taylor, PhD Geisinger Clinic
Principal Investigator: Wendy Chung, MD PhD CUMC/New York-Presbyterian Morgan Stanley Children's Hospital
Additional Information:
Publications:

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Responsible Party: Simons Searchlight
ClinicalTrials.gov Identifier: NCT01238250    
Other Study ID Numbers: 2011-0320
Simons Searchlight ( Other Identifier: Simons Foundation )
Simons VIP ( Other Identifier: Simons Foundation )
Simons VIP Connect ( Other Identifier: Simons Foundation )
First Posted: November 10, 2010    Key Record Dates
Last Update Posted: November 23, 2020
Last Verified: November 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Identifiers will be removed from data which will be stored in a secure database; qualified researchers can request access through the Simons Foundation Autism Research Initiative (www.SFARI.org)
Keywords provided by Simons Searchlight:
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
autism
ADNP
ANKRD11
ARID1B
ASXL3
ACTL6B
AHDC1
BAF190
ANK2
Additional relevant MeSH terms:
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Brain Diseases
Intellectual Disability
Epidermolysis Bullosa
Epidermolysis Bullosa Simplex
Disease
Syndrome
Autistic Disorder
Pathologic Processes
Central Nervous System Diseases
Nervous System Diseases
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Neurodevelopmental Disorders
Mental Disorders
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Skin Diseases, Vesiculobullous
Neurobehavioral Manifestations
Neurologic Manifestations