Inchstone Results

Research and development is a highly iterative, collaborative process and we're excited to share our results to date with you.

The Inchstone Project is a unique multi-disciplinary and stakeholder initiative operating in a pre-competitive space which: 

  • Brings together experienced COA researchers, innovative industry partners, clinicians and a community of dedicated patient advocacy groups. 
  • Collaborates to develop sensitive measurements that accurately reflect the subtle yet meaningful progress of profoundly impaired individuals in response to new treatments.

Overview of Progress of The Inchstone Project – 2022-2024

Our multi-stakeholder team is making significant inroads towards new COA instruments for individuals with DEE/NDDs starting with a seminal pilot study in 2022, documenting the limitations and potentials for adaptation of commonly used and adapted COAs for profoundly affected individuals. 

In 2023-2024 we developed and circulated the DEE DEE/NDDs Parent Speak Survey (DEE-PSS) and received input from over 260 families representing patients with over 2 dozen etiologies, 2/3 with seizures. Findings from this unique and comprehensive caregiver survey included 5 separate tools/modules that are revealing promising insights that are helping build an evidence base about what domains are most impactful on children and families, priorities for improvement, increments that capture small but meaningful change - inchstones, as well as the limitations and potential for adaptations of multiple existing instruments. 



Publications

All peer-reviewed publications are available here. Check back for updates as we have many papers currently under review! 

Posters

For an abbreviated view of our results to date, including those not yet published, please check out our posters.

Meetings

During our community update meetings, we recap our progress, next steps, practical and theoretical challenges, and new and exciting ventures. 

The Inchstone Project Progress

2022

  • The Inchstone Project is Founded
  • FDA Feedback on Patient Focused Drug Development Guidance 3
  • Industry & Community updates
  • American Epilepsy Society - 4 posters
  • SCN2A Pilot Study
  • DEE Parents Speak survey Development and Design

2023

  • Initial findings presented at multiple conferences: International Neuropsychological Society, Child Neurology Society, Chan Zuckerberg Institute's Science in Society Meeting, Research!America, ICON Rare Disease Meeting, American Epilepsy Society, and many more community, industry, and private briefings
  • Launch of the DEE Parents Speak survey
  • Analysis of initial findings and preparation of multiple publications

2024

  • Continued dissemination at multiple conferences: Child Neurology Society, International Neuropsychology Society, American Epilepsy Society, Chan Zuckerberg Institute's Society in Science meeting.
  • Initial analysis of 267 survey responses from our DEE Parents Speak survey
  • Berg AT, Ludwig NN, Wojarnoski M, Chapman CAT, Hommer R, Conecker G, Hecker J, Downs J. FDA-Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies. Neurology 
  • Downs J, Ludwig NN, Wojnaroski M, Keeley J, Myers LS, Chapman AT, Hecker J, Conecker G, Berg AT. What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-developmental and epileptic encephalopathy. Qual Life Res. 
  • Hecker J, Conecker G, Chapman C, Hommer R, Ludwig NN, Sevinc G, Te S, Wojnaroski M, Downs J, Berg AT. Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials. Ther Adv Rare Dis 
  • Ludwig, N.N., Wojnaroski, M., Suskauer, S.J., Slomine, B.S., Kaiser, A., Paltell, K., Evans, L., Tucker, K., Chapman, C., Conecker, G., Hecker, J., Schust Myers, L., Downs, J.*, Berg., A.T.*. Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder. Epilepsy and Behavior
Publications
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Presentations
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Families engaged with research
PAG partners and growing

Publications

Posters

Click on any posters below for a larger, readable version.

AES 2024 Posters:

HAVE QUESTIONS OR WANT TO LEARN MORE?