Currently, 1 in 59 children in the U.S. has a diagnosis of autism by the age of 8. The U.S spends over $350 million per year on autism research. Yet, across the spectrum, the quality of life and outcomes remain poor. In spite of significant investment in research, we lack FDA approved interventions for the core disabilities associated with autism. We need more research that is focused on addressing core disabilities and improving the quality of life for individuals on the autism spectrum.
We also lack a robust Standard Of Care (SOC) or consensus clinical practice guidelines for medical comorbidities in children and adults with ASD. Children and adults on the autism spectrum have an increased rate of medical comorbidities. Many cannot communicate or adequately advocate for themselves, making these conditions hard to diagnose. The result: lower quality of life, increased mortality risk, impaired ability to participate in education, employment, and activities of daily living. There is a significant, unmet need for proactive medical care for children and adults with autism.
We want to address the many issues which contribute to the current state.
i. Multidisciplinary Collaboration
There is strong evidence of involvement of multiple aspects of the body in autism, including metabolism, mitochondria, the gastrointestinal system, immune system, the endocrine system, and so on. These may contribute to the many medical comorbidities in autism. Since so many aspects of the body are involved, knowledge needs to be integrated across multiple medical specialties and research areas in order to reach a big-picture understanding of what happens in the body in autism. To achieve this, it is important for researchers to collaborate across research disciplines on multidisciplinary studies.
To support multi-disciplinary collaboration, we organize Synchrony, an annual event to bring together researchers, clinicians and caregivers and individuals for roundtable discussions and sharing of the state of knowledge in key research areas.
To continue collaboration throughout the year, we organize working groups with specific goals, and fund them through BRAIN and its network of partners. The working groups will formulate deliverables including – treatment study proposals, proposals for funding basic science, clinical practice guidelines and case studies. The working groups will be informed by the voice of individuals with autism, their families and other stakeholders.
ii. Accelerating FDA Approved Treatments
Since autism is currently diagnosed based upon behavioral markers, it can be difficult to assemble a study cohort with common underlying issues, and difficult to see if a particular individual would respond to a treatment suggested by a study result. Even when promising treatments are found, the path to FDA approval is very expensive and has a number of regulatory hurdles.
- Subtyping the autism spectrum into phenotypes based upon biological markers will help both researchers and clinicians find effective evidence-based interventions. To help subtype the autism spectrum and identify phenotypes, we are building a large scale registry and multiomics-ready biobank.
- In order for promising research to lead to new FDA approved interventions, we connect researchers to funding sources in the community, such as corporate and individual donors, angel or venture capital investors for startup companies. We also set up academic and industry collaborations needed to establish the technologies, regulatory, scientific and statistical expertise and other resources to accelerate the pace of translational research.
iii. Focus On Quality Of Life Outcome
Research priorities are not adequately focused on quality of life outcomes. One reason is that research priorities do not adequately reflect the realities faced by individuals with autism and their families. Further, several sub-populations are under-represented in research. For example, the percentage of studies including children with severe autism has fallen over the past 30 years.
- We need the voices of stakeholders heard in shaping research priorities. Our Community Advisory Council includes individuals with autism as well as key stakeholders like their families such as individuals with autism, their families and clinicians who treat the medical co-morbidities in ASD. The research round tables and working groups feature participation from community stakeholders.
- To improve quality of life for individuals on the spectrum, we fund basic science research, pre-clinical and clinical studies in support of hypotheses that have the potential to translate into quality of life outcomes. We also fund treatment trials and publications to enrich the body of published research in areas of greatest medical need.
iv. Evidence-Based Treatments For Medical Co-morbidities
Currently, there is a gap in translating research to evidence-based treatments for acute and chronic medical conditions in ASD in the clinical setting. To change this, it is important to establish “autism specialty” clinics in research and teaching hospitals with coordinated care involving several specialties, with a primary care physician such as a pediatrician or internist as the first point of contact, and translate the research to multidisciplinary care across the lifespan. Our clinical initiatives focus on translating research to evidence-based treatments for the core disabilities of autism and comorbid medical conditions.
- We aim to partner with research and teaching hospitals like UC Davis MIND, and other local research and teaching hospitals to establish model clinics, on the lines of best practices in oncology. These model clinics will offer “one stop” access to multi-specialty care so that individuals with autism can get evidence-based interventions and treatments for medical comorbidities.
- We provide access to patient groups needed for advancing treatment expertise.
- We organize conferences and CME Training workshops to train community physicians like pediatricians, urgent/ER care specialists and internists on clinical practice guidelines as formulated by research and teaching hospitals.
Supporting Technical Infrastructure
In order to facilitate ongoing collaboration, we make a robust framework available to all researchers and clinical investigators and clinicians who are part of the BRAIN network.
- We will give each working group access to a professional collaboration platform to communicate and make progress towards completing the deliverables
- We will provide access to a HIPAA compliant platform to support data storage, sharing and analysis. The goal is to make data available to other professional groups to enhance and validate prior research and add to the body of knowledge.
- We will help with patient recruitment for clinical studies and trials through our parent and caregiver networks.
- We will explore the need for cloud-based telehealth-powered study infrastructure to support the path from patient recruitment to FDA regulatory support.
Registry and Biobank
The registry will have research-ready participants assessed using a diagnostic instrument like ADI-R. In addition to behavioral profiles, the registry will have rich phenotypic data such as clinical data, information on co-morbidities and lab data. This effort will launch at Synchrony 2019, where we will organize a working group to articulate the need and best methodology to establish a registry and biobank to support research involving autism populations on a large scale. We will also explore the applicability of systems-level platforms for -omics data processing to catalyze new drug and pathway discoveries.