Results To Date
Symposium Accepted at Galinburg 2023 - "Exploring the potential of responsivity measures in children and young adults with SCN2A Developmental and Epileptic Encephalopathy"
Four Latebreaker Abstracts Accepted as Posters at AES 2022 - 100% Acceptance Rate
Submitted extensive, constructive, scholarly feedback to the FDA on their Draft Guidance on Developing or Modifying Clinical Outcome Assessments
We submit these comments as a diverse group of stakeholders dedicated to improving outcome measures for those with severe developmental and epileptic encephalopathies (DEEs) and considerable medical complexity. We collaborate through The Inchstone Project (housed within DEE-P Connections)—a group of leading clinical outcome assessment (COA) researchers, clinicians, patient advocacy groups, and industry partners—with the goal of ensuring that there are outcome measures that can capture even the most minute progress by the most severely impacted individuals - the inchstones, not milestones. We believe that with the emergence of genetic therapies and the need to include those significantly impacted by these rare disorders in clinical trials, precision medicine requires precision measurement.
Our comments provide a brief summary of the challenges patients with DEEs face and outline specific aspects of the guidance which could better reflect the distinct needs and challenges of measurement in this population. We highlight the need for accommodation to assure their equitable inclusion in both COAs and more importantly, the drug development and evaluation process.
Last year, we were able to perform our Inchstone pilot study with great success. The results of this study had a 100% acceptance rate for late-breaking abstracts submitted to the AES conference in 2022! Click on each poster to make them bigger.
Members of our team helped plan and presented at an Investigator Workshop on Non-Seizure Outcome Measures for DEEs - AES 2022
Clinically meaningful, validated outcome measures are critical for the development of novel therapeutics. Seizures as a
primary outcome may not always be suitable or sufficient for patients with Developmental and Epileptic Encephalopathies
(DEEs). This workshop will present an overview of challenges in evaluating outcomes in DEEs, the state of existing and
emerging measures and tools appropriate for DEEs, discuss development of new measures and refinement of existing
measures to fit patients with DEE, and highlight patient/ caregiver-led research efforts to accelerate urgently needed
improvements. Panelists include speakers from diverse backgrounds, experience, and roles.