Inchstone Logo

Collaborating to Accelerate Outcome Measures for those who are Severely Affected

Phase I of this project was a joint effort of DEE-P Connections (a partnership of 36 patient advocacy groups - PAGs) and COMBINEDBrain (a consortium of 26 PAGs). We set out to survey the literature, assess ongoing initiatives, and develop a Blueprint to accelerate progress toward validated outcome measures for severely affected DEEs.

Our Call to Action


DEE-P Connections—a collaborative project founded by the International SCN8A Alliance—was born out of the frustration that there was no space for families who had children with severe epilepsies to come together to learn, ask questions and advance the understanding of rare epilepsies. 

With the nearing of clinical trials for many rare epilepsy communities, we began to feel the urgency for outcome measures that would actually measure the smaller improvements our children make over time—the inchstones, not milestones. Thus, DEE-P Connections launched a plan to work collaboratively with key stakeholders to develop consensus on how to tackle this gap.


We are a diverse group of stakeholders collaborating to accelerate outcome measures to meaningfully capture improvements in all domains for severely affected populations. 


Limits of Current Ad Hoc Initiatives

Our landscape analysis revealed that many efforts are underway to begin to address the limitations of existing tools and measurements. Individual disease groups are exploring these issues and individual researchers are studying measures in selected disorders. As promising as many of these efforts are, they often function independently, are often underfunded and do not provide timely access to these measures for other disorders.

To advance these measure for all DEEs, efforts are needed to combine the dedication, engagement, and commitment of diverse developers and stakeholders across:

  • Etiologies and PAGS
  • Individual Industry Partners and
  • Research and Development Efforts


Develop a collaborative effort to bring a strategic and coordinated focus to a drive to improve outcomes measures which capture improvements among the most severely affected populations. We seek additional collaborators across the range of stakeholders - industry, researchers, and PAGS - to:  

  • Pool resources and intellect, bringing critical voices and experiences to a single table, which will optimize the rate of progress and success.
  • Maximize efficiencies - diverse stakeholders working together  eliminates the disease-by-disease, tool-by-tool status quo. 
  • Avoid a fractured, piecemeal approach which delays progress and limits continuous learning.
  • Establish a strategic collaborative approach which will be comprehensive, holistic, and robust.
Matthew Leavens Sept 2013

Workshop Resources


RECORDING – Inchstone Outcomes Workshop 1


RECORDING – Inchstone Outcomes Workshop 2

Initial Promising Projects for Collaborative Support

online tools

The landscape phase of our collaborative efforts has identified multiple projects which are ready for adaptation, extended scaling, or testing  for exploration by potential consortium partners include:

  • Adapting the Vineland - Evaluate opportunities to adapt features of the Vineland tool to the broader severe populations; PI: Dr. Anne Berg
  • Health-Related Quality of Life Scale for DEEs - extend Quality of Life Inventory of Disabilities to include refined tools that recognize diverse impacts of severe disabilities; PI: Dr. Jenny Downs in collaboration with Epilepsy Foundation Epilepsy Learning Healthcare System team
  • Goal Attainment Scaling - Validate Goal Attainment Scaling, a highly sensitive measure of change, in the severe DEE population; PI: Chere Chapman, Ardea Outcomes
  • Rehabilitation Scales - adaptation of broad measures and tools developed for rehabilitation of individuals with profound trauma for broad DEE populations; PI: Dr. Natasha Ludwig, Kennedy-Krieger Institute
  • Final Disease Concept Map of select severe DEEs to provide reliable baseline of performance challenges and measurement requirements in severe DEEs; PI: Dr. Terry Jo Bichell
  • Ongoing Scouting and Documentation - ongoing collaborative effort to evaluate additional emerging opportunities on critical issues such as CVI, sleep, etc.; PI: Gabi Conecker

Slide Presentations

Presentation Materials

Get engaged to help end the floor effect!


Industry—particularly companies with potentially game-changing disease-altering new treatments in their pipeline—are likely to benefit significantly from accelerating improved outcome measures.  Benefits include:

  • Opportunities to learn about cutting edge new tools 
  • Shaping these efforts to best meet their organizational needs
  • Accelerating progress towards new validated measures for the most severely affected.

We propose that corporate partners, combined, provide $500,000-$750,000 in seed funding to formalize an operational collaborative effort that will direct, manage, champion, and develop full research proposals and budgets for Phase II projects. 

Contributions can be scaled to the size of applicable commercial interests and stage of development (e.g. all compounds still in clinical phase vs those with existing revenue streams).

Individual industry contributions might range from a minimum of $50,000 to $75,000 for small companies still in the clinical phase to $150,000 to $200,000 for larger corporations with a larger pipeline and an existing revenue stream.

Partnership with 10 companies would provide an essential industry voice as well as a substantive foundation for moving forward on all the key elements outlined above.


Researchers can benefit from:

  • A collegial, team-science environment of collaboration to maximize the impact of individual programs
  • Seeing your work in the context of a broader strategy to capture the full range of outcomes
  • Bringing new ideas to the table to potentially be scaled via this collective


Patient advocate leaders are the heart and soul of this collaborative effort - it’s our children who all too often remain unseen, unmeasured, and off the radar in the evaluation of disease-altering treatments. Benefits from involvement include:

  • Maximized efficiencies - diverse stakeholders working concurrently to advance identified and other promising new tools 
  • Pool efforts to coordinate, extend and adapt disease-specific development efforts
  • Collaborate to accelerate new measures to promote for inclusion in upcoming clinical trials


The collaborative effort will welcome engagement by all partners sharing the commitment to accelerating testing and validation of new outcome measures for those most severely affected by complex diseases.

Broad advocacy organizations, patients/disability rights organizations, professional associations, key governmental organizations, and others are welcome.

Reach out to us at to explore becoming an Inchstone partner.

We are deeply grateful to our Phase I sponsors for allowing this critical work to get started.

Patron/Partner Sponsor

praxis pm

Supporting Sponsors