Meetings and Community Updates
To learn more about our progress, what we've learned, and where we're headed, follow along with our community update videos below. You can also sign up for our quarterly newsletter by clicking the "stay in touch" button above.
The Inchstone Project Progress
January 2025 Inchstone Community Update
The Inchstone Project team provided an exciting update on their research to improve clinical outcome measures for individuals with severe developmental and epileptic encephalopathies (DEEs) and neurodevelopmental disorders (NDDs). Key discussions included findings from the DEE Parents Speak Survey, the validation of assessment tools like the DP4, and efforts to measure meaningful change and responsivity in profoundly impacted individuals.
The team also highlighted the need for better communication assessments and the importance of considering cortical visual impairment (CVI) in evaluations. Looking ahead, the project is focused on refining these tools, fostering industry partnerships and regulatory communications, and ensuring that patient and caregiver voices continue to shape this critical work.
Beyond Seizure Counts: Expanding Endpoints in Pediatric Epilepsy Trials
In this XTalk, Gabi and JayEtta discuss the work the Inchstone Project team is doing to develop non-seizure endpoints for meaningful inclusion into pediatric epilepsy trials.
Spring 2024 Inchstone Community Update
In this update, we shared our preliminary findings on which comorbidities parents reported as most important to address and which were most impactful on both their child and their family. We looked at how different scores and priorities changed (or didn't) based on gene groups. While there were some differences, measures such as quality of life, priorities such as improving communication, and scores from assessments such as the Developmental Profile-4 showed more similarities between different gene groups than differences. Finally, we shared the community-specific overview dashboards that were created for each disease group who had more than 14 participants.
February 2023 Inchstone Community Update
In our first community update, we share our vision for this project, why it's so needed, and the groundwork we've laid so far. We go over initial findings from when we piloted this project within the SCN2A community (thanks FamiliesSCN2A!). We then share our next steps and give an overview of our DEE Parents Speak Survey. This is a great video to start with if you're brand new to the Inchstone Project!