With funding from Aligning Research to Impact Autism (ARIA), the IMPACT network brings together leading academic centres from across the USA, Canada, and the UK to address long-standing gaps in research involving individuals with significant cognitive and language impairments who require lifelong support. Despite representing a substantial proportion of the autism community, this group has historically been underrepresented in research.
A cornerstone of the IMPACT Network is a short-term natural history and clinical endpoint study that will follow children and young adults over time to better understand developmental trajectories, health needs, and differences between individuals. The study will not test treatments. Instead, it is designed to build a robust evidence base showing how symptoms and support needs evolve over time and to help establish outcome measures for future clinical trials.
The study forms part of the broader ARIA clinical research ecosystem and will enrol children with profound autism as well as children with genetically defined neurodevelopmental conditions associated with autism.
Study participants from across the UK will be invited to annual in-person visits in Oxford or London over the span of three years. The study will collect a wide variety of information to enhance our biological understanding of profound autism, such as genetic testing, neurophysiological tracking, sleep patterns, and developmental assessments. By following participants over time, the study aims to better understand how needs and abilities change, identify variability within profound autism, and uncover patterns that are currently poorly explained.
“This study is about listening, learning, and building a clearer, evidence-based picture of profound autism,” said Stephan Sanders, Professor of Paediatric Neurogenetics in the Department of Paediatrics at the University of Oxford. “By examining how symptoms change across development, we can generate the evidence needed to design more inclusive and effective research in the future.”
As part of the study, researchers will focus on individuals with likely pathogenic or pathogenic variants in six genes strongly associated with profound autism and neurodevelopmental delay: ARID1B, CHD2, GRIN2B, RNU4-2 (autosomal dominant ReNU syndrome), SCN2A (early and late onset presentations), and SLC6A1.
In addition, studying these participants alongside individuals without a known genetic diagnosis of autism will help researchers understand both shared and distinct developmental pathways.
Emily Jones, Professor of Developmental Translational Neuroscience at King’s College London added: “By capturing detailed, longitudinal data from individuals who have too often been excluded from research, we can begin to define what meaningful measurement and inclusion should look like, ensuring future studies are better designed, more representative, and ultimately more relevant to families.”
Laurent Servais, Professor of Paediatric Neuromuscular Diseases at Oxford added, “We are very excited to be a key component of this large initiative. Oxford/King’s is the only site outside North America, it means a lot for patients in the UK and their families.”
The IMPACT Network is designed to work closely with families, clinicians, and the wider autism community. Importantly, the study prioritises individuals who are often excluded from research, alongside long-term engagement with families and the collection of real-world data.
“The ARIA IMPACT Network represents a pivotal, collaborative step toward accelerating clinical trial readiness for autism and related neurodevelopmental conditions," said Ekemini Riley, PhD, Managing Director of ARIA. "The cross-disciplinary expertise and commitment of the team at the University of Oxford and King’s College London strengthen what we can accomplish together as we work to advance meaningful therapeutic opportunities for autistic people and their families.”
Families affected by variants in one of the six genes, or by undiagnosed profound autism, who may be interested in finding out more information and being kept up -to-date with developments or who may be interested in taking part in the research are invited to register their interest by emailing: aria-impact-oxford-kcl-subscribe@maillist.ox.ac.uk. Families affected by variants in other genes, that may become the focus of future studies, can register at: genomicmedicine-subscribe@maillist.ox.ac.uk. Please do not share medical details at this stage; a secure survey will be provided in future.