SPARK Registry-PEDSnet Linkage Pilot

Autism spectrum disorders (ASD) are characterized by significant deficits in neurobehavioral function including communication and reciprocal social interaction, with restricted, stereotyped and repetitive behaviors, activities, and interests. The number of children identified with ASD has increased substantially over the last few decades; today an estimated one in 68 children in the United States has an ASD. Clinical signs of autism typically become apparent in early childhood. The genotypic and phenotypic heterogeneity in ASD has made research in ASD, including the development of novel treatments, challenging. Risperidone and aripiprazole are FDA-approved for the indication of irritability in ASD, but are not effective for the core symptoms or other comorbidities. There is no FDA approved medication for the core symptoms of ASD. Efforts to develop pharmacological therapies for the core symptoms have been problematic, due substantially to sub-optimal outcome measures and the lack of scientifically-based methods for subject stratification.

The Simons Foundation Powering Autism Research for Knowledge (hereinafter referred to as SPARK)Registry was established 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 facilitates 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 the methodology is not currently available for most diseases.

This project aims to test the feasibility of bringing together existing streams of data from the SPARK registry and the PEDSnet database, to further the depth and breadth of information available for study of ASD. For this project, we will identify SPARK registry members with CHOP identified as their health care provider, link and extract a CHOP EHR data set for consented SPARK participants, and assess the nature and quality of EHR data of highest priority to the Simon Foundation.

The contribution of electronic health records from a large pediatric center representing a significant proportion of SPARK registry participants provides a unique opportunity to greatly expand the breadth and depth of information to further the research aims of the SPARK registry.

The purpose of this study is to expand the SPARK registry data resource by integrating CHOP clinical EHR data for already consented patients participating in the SPARK registry. The linkage of the CHOP EHR data will contribute to the existing data set, whose purpose is to be made available to qualified researchers, so that scientific and treatment advances can be made as rapidly as possible.