|Principal Investigator: Paul Carbone|
|Keywords: Autism||Department: General Pediatrics|
|IRB Number: 00119980|
|Specialty: Pediatrics, Developmental|
|Recruitment Status: Recruiting|
The purpose of SPARK: Simons Foundation Powering Autism Research for Knowledge (hereinafter referred to as SPARK) is to recruit, engage, and retain a community of 50,000 individuals with ASD along with their family members in the United States to identify the causes of ASD, accelerate clinical research by providing the autism research community with a genotyped cohort of consented participants, and establish a research cohort of individuals and families with ASD. The data generated will facilitate identification of additional genes that contribute strongly to ASD and define their corresponding genotype-phenotype relationships. Data from this cohort will also help identify additional non-genetic causes of ASD. A long term goal of SPARK is to enable genotype-driven clinical research in ASD, which may translate into genotype-driven therapeutics and treatment of ASD. This type of ‘precision medicine’ approach is an emerging strategy for disease treatment and prevention that takes into account individual genetic variability, environment, and lifestyle. Noteworthy advances in precision medicine have been made for specific cancers, but precision treatments are not currently available for most diseases. Many researchers are working towards precision medicine, and SPARK is one such project. A limited data set from this study will be made available to qualified researchers, so that scientific and treatment advances can be made as rapidly as possible.
All children and adults with a professional diagnosis of ASD who live in the United States are eligible to participate in this study. Biological or adoptive parents, legally authorized representatives (LARs), and full biological siblings of individuals with ASD who live in the United States are also eligible to participate.
To register, adult participants will provide contact information, an email address (to be used as a unique username) and password; identify the individual with autism who is being enrolled in the study; and indicate guardianship status for adults with ASD (See appendix E1 to see wireframes of registration and consenting process). Participants can enroll their dependents with ASD, or themselves if they are over 18, have ASD and do not have a court-appointed legal guardian.
Not having a diagnosis of autism spectrum disorder or not being a biological or adoptive parent, legally authorized representative (LARs), or full biological sibling of an individual with ASD