Online Study of Individuals With 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 : June 14, 2019
|Condition or disease|
|16p11.2 Deletions 16p11.2 Duplications 1q21.1 Deletions 1q21.1 Duplications ACTL6B ADNP AHDC1 ANK2 ANKRD11 ARID1B ASH1L ASXL3 BCL11A CHAMP1 CHD2 CHD8 CSNK2A1 CTBP1 CTNNB1 CUL3 DDX3X DNMT3A DSCAM DST DYRK1A FOXP1 GRIN2A GRIN2B HIVEP2 HNRNPH2 KAT6A KATNAL2 KDM5B KDM6B KMT2C KMT2E KMT5B (Previously SUV420H1) MBD5 MED13L PACS1 PBRM1 POGZ PPP2R5D PTCHD1 PTEN PURA REST SCN2A SETBP1 SETD5 SMARCA4 (BAF190) SMARCC1 SMARCC2 STXBP1 SYNGAP1 TBR1 Additional Genetic Changes Associated With Autism May be Added as Identified ARHGEF9 HNRNPU KCNQ2 PPP2B PPP2R1A SLC6A1|
In Phase 2 (currently enrolling), the study has expanded to include more families with genetic changes by including additional genetic changes of interest and offering participation through a remote (online, phone) format. This allows English-speaking families from across the world to participate at times convenient to their schedule. Biospecimens will be collected from participants and linked to clinical data in order to understand the relationship between specific genetic changes and the brain's development.
In Phase 1 (now closed to enrollment), the project assembled a team of experts at seven premier medical centers to collect detailed clinical information from families through in-person visits. This information has helped clinicians and families understand the relationship between specific genetic changes and the brain's development.
Information from the project 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 individuals with genetic and developmental differences.
|Study Type :||Observational|
|Estimated Enrollment :||5000 participants|
|Official Title:||Online Study of Individuals With 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|
Individuals with documented 16p11.2 deletions.
Individuals with documented 16p11.2 duplications
Individuals with documented 1q21.1 deletions
Individuals with documented 1q21.1 duplications
Single Gene Variants
Individuals with documented pathogenic or likely pathogenic variants in a gene related to autism spectrum disorder and/or developmental delay
- 1. Baseline comprehensive collection of the medical, behavioral, and learning features of individuals with documented genetic changes associated with features of autism and developmental delay [ Time Frame: Baseline data is collected over the course of one month, on average. ]Families with individuals who have specific documented genetic changes associated with features of autism and developmental delay will report detailed medical and family history information by phone, while 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 individuals.
- Longitudinal (long-term) comprehensive collection of the medical, behavioral, and learning features of individuals with documented genetic changes associated with features of autism and developmental delay [ 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 how features of genetic changes related to autism and developmental delay change as individuals get older, 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, Pennsylvania|
|Geisinger Health System||Recruiting|
|Lewisburg, Pennsylvania, United States, 17837|
|Contact: Cora Taylor, PhD 570-522-9430|
|Principal Investigator:||Cora Taylor, PhD||Geisinger Clinic|