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
|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|
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 Type :||Observational|
|Estimated Enrollment :||5000 participants|
|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|
Copy Number Variants
Individuals with documented pathogenic or likely pathogenic copy number variants related to autism and other neurodevelopmental disorders.
Individuals with documented pathogenic or likely pathogenic variants in a gene related to autism and other neurodevelopmental disorders.
- 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.
- 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
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
|Contact: Simons Searchlight Study Coordinator||855-329-5638||coordinator@SimonsSearchlight.org|
|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|
|Principal Investigator:||Cora Taylor, PhD||Geisinger Clinic|
|Principal Investigator:||Wendy Chung, MD PhD||CUMC/New York-Presbyterian Morgan Stanley Children's Hospital|