Comment from DEE-P Connections
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Summary: DEE-P Connections, a caregiver-led collaborative organization representing families affected by Developmental and Epileptic Encephalopathy (DEE), strongly supports the FDA's Plausible Mechanism Framework. They argue that the framework should be improved to better incorporate real-world data, mandate meaningful patient engagement, utilize flexible trial designs, and ensure the use of fit-for-purpose outcome measures for medically fragile populations.
DEE-P Connections shares our support for and feedback on the Plausible Mechanism Framework [Docket No. FDA-2026-D-1256] in the attached document. Our comments are on behalf of the 1/590 people born with a Developmental and Epileptic Encephalopathy (DEE) disorder - disorders characterized by intractable epilepsy and severe developmental delays/regression. As shared by DEE families in an Externally-Led Patient Listening Session that we held in November 2024 (https://www.fda.gov/media/186112/download), we cannot wait decades to find treatments for the roughly 125,000 people currently living in the US with a DEE.<br/><br/>DEEs typically have an onset during infancy or early childhood and are marked by a range of comorbidities, often including intellectual disabilities, autism and behavioral challenges, gastrointestinal disturbances, movement disorders, and asleep challenges, among many others. Those impacted require 24/7 care for their entire lives, many of which end prematurely. <br/><br/>We are grateful for the draft guidance and applaud FDA’s effort to accelerate individualized therapies for ultra‐rare diseases such as the DEEs.