About this project
ARID1B-related disorder (ARID1B-RD) is one of the most common single-gene neurodevelopmental conditions that happens de novo (not inherited). It affects roughly 1 in 9,500 people. Children with ARID1B-RD often experience moderate to severe developmental delays, intellectual disability, and sometimes autism spectrum disorder, along with a range of other health and developmental challenges.
Even though it’s relatively common among rare disorders, we still know very little about how ARID1B-RD changes over time. This project follows 120 children and teenagers with ARID1B-RD for 2.5 years, across seven international sites, to get the most complete picture yet of the disorder’s progression. We will look at both what changes and how these changes happen, across multiple areas of development.
Why does it matter?
Without knowing how ARID1B-RD develops over time, it’s hard to design effective therapies or to measure if treatments are working. By carefully tracking changes in skills, health, and daily life over several years, we can:
Identify reliable clinical endpoints (measurable changes) for future treatment trials.
Find biological markers (like brain activity patterns or molecular “signatures”) that could help predict the course of the disorder.
Give families and clinicians clearer information about what to expect.
The ultimate goal is to speed up the development of effective treatments for ARID1B-RD and improve quality of life for children and their families.
How it works
Long-term follow-up
Participants (ages 2–18) are assessed every six months for 30 months. We use a mix of methods:
Clinical assessments – Standardized developmental and neuropsychological tests, plus caregiver questionnaires.
Biological measures – Brain activity (EEG), genetic/epigenetic markers, protein profiles, and facial analysis.
Everyday life data – Caregivers’ daily reports, plus wearable devices (like smartwatches) and microphones to track movement, activity, and language in real-world settings.
Team approach
The project brings together experts in psychology, neuroscience, genetics, and speech/motor development, alongside patient advocacy groups who help connect with families.
What we’ll learn
By combining clinical, biological, and everyday data, we aim to map out the natural history of ARID1B-RD, define the best ways to measure change, and prepare the ground for clinical trials that are more targeted and effective.