DEE-P Connections

We are thrilled to share that DEE-P Connections, in partnership with the Rare Epilepsy Network (REN), held a DEE Patient Listening session yesterday with members of the FDA. During the session, families from a range of DEE/NDD communities highlighted the similar challenges our children with DEEs/NDDs face including refractory seizures, as well as a wide array of non-seizure concerns that affect quality of life such as challenges with communication, fine and gross motor skills, intellectual disability, sleep disruptions, hypotonia, behaviors, cortical visual impairment (CVI), pulmonary issues, and more. Part of the conversation focused on what matters most to families in the context of clinical trials and Megan Wright, mom to Lexi who lives with KCNT1 epilepsy shared what many of us believe “No improvement would be too small.” In addition, Professor Jenny Downs shared recent data from The Inchstone Project on the limitations of existing clinical outcome assessments (COAs) which are unable to measure small but meaningful improvements in those with profound impairments. She also outlined the abilities, priorities for improvement and unmet needs of the DEE/NDD community shared by parents in our recent community caregiver survey. Please share widely to help spread the word and follow DEE-P Connections to stay posted as we share more from this meeting in a summary report and future webinar. We are grateful to all of the caregivers who were willing to so openly share their stories as well as the FDA for listening to the challenges, needs and priorities of the DEE/NDD community. This was an incredibly powerful step forward in the conversation about quality of life and meaningful change for DEEs/NDDs in the context of clinical trials. Funding support from Longboard Pharmaceuticals and Neurocrine Biosciences allowed us to bring in the incredible Richie Kahn and Jennifer McNary from Canary Advisors® and Carolina Consuegra from Science2People to help us prepare for, execute and document the session so seamlessly. Christina SanInocencio, PhD, CPH, CNP Shannon Guardiola Shawn Egan, Ph.D. Karen Utley minoo saadatyar Patricia Geurds JayEtta Hecker Ilene Penn Miller International Foundation for CDKL5 Research (IFCR) CRELD1 Warriors SCN2A- The FamilieSCN2A Foundation International SCN8A Alliance FOXG1 Research Foundation KCNT1 Epilepsy Foundation #ClinicalResearch #ClinicalTrials #DEEs #NDDs #PatientCentered #Healthcare #Medicine #MeaningfulChange #TheInchstoneProject #CountEveryInchstone #Genetics #Biotech #ClinicalDevelopment #Seizures #Epilepsy #RareEpilepsies #Comorbidities

We are proud to be a part of the Epilepsies Action Network team working to advance better awareness of and funding for the epilepsies in the US. Please join us - we know that the more we speak with a united voice on Capitol Hill, about the disparities in care, treatments and outcomes for those with epilepsy with our representatives, the greater impact we can have to move the needle. https://lnkd.in/gig8Edng

We hope you'll jin us this afternoon for this critical discussion about increasing access to clinical trials for the broad range of #DEEs and how one company is tackling this. We are excited to co-host this discussion with our partners at Rare Epilepsy Network (REN) and Longboard Pharmaceuticals. bit.ly/AccessCTs #ClinicalTrials #ClinicalResearch #DEEs #inclusion #Access

Join us for a conversation about a promising clinical trial model for new epilepsy treatments that accelerates access to the wider community of DEEs. A “basket trial” design is used in clinical trials for medicines aiming to treat symptoms of those living with DEEs, including seizures. This broad approach is different than the current standard clinical trial design singling out individual disorders, and would mean increased access to clinical research for a wider range of families interested in participating. With this more inclusive model, treatments approved using this method could include DEEs in the "label" (i.e. approved by the FDA for use), reducing the need for families to have to fight with doctors and insurance companies for the use of drugs off-label. Join us to learn more about this model in our discussion with Longboard Pharmaceuticals who has applied this model in their innovative Phase 2 trial design which was inclusive of all DEEs. DEE-P Connections is actively advocating for this model to improve wider access to trials and approved medications across the #DEEs. All are welcome to listen, learn and ask your questions! April 29th 3:30-4pm ET REGISTER HERE - https://lnkd.in/gxqdDq9C

Join us tonight to hear a report out on The Inchstone Project from the Research Team, in particular, about our recent survey of more than 270 DEE caregivers about what their children CAN do and what their priorities are for their children. We are working to adapt clinical outcome assessments to ensure that the progress of everyone with a rare disorder, no matter their ability level, can be measured. We are working to count every inchstone of progress - join us to learn more. #CountEveryInchstone #TheInchstoneProject #ClinicalResearch #ClinicalOutcomes #ClinicalTrials #DEEs #RareEpilepsy #NeurodevelopmentalDisorders #NDDs Phelan-McDermid Syndrome Foundation SCN2A- The FamilieSCN2A Foundation FOXG1 Research Foundation International SCN8A Alliance ASXL Rare Research Endowment Foundation KCNT1 Epilepsy Foundation Dup15q Alliance STXBP1 Foundation The CASK Gene Foundation

The Inchstone Project, hosted by DEE-P Connections, invites you to a community update on the preliminary results from our recent survey of nearly 270 DEE families, representing a wide spectrum of the rare epilepsies. The Inchstone Project Research Team will outline some of the trends we are seeing in caregiver priorities for improvement in their children's condition from new and emerging treatments - including major similarities and differences across etiologies. We'll share an update on the progress of our efforts to adapt and/or create a range of assessment tools that can accurately measure progress in the many areas beyond seizures in our loved ones who are more profoundly impacted by disorders and are consistently left unmeasured. More sensitive outcome measures that capture small but important improvements in the more severe population are critical to the success of clinical trials which are more frequently promising disease-modifying treatments. Please join us Monday March 25th from 6-7:30pm EST. https://lnkd.in/e6cCFf95

Attention epilepsy community - here is a simple way of advocating for increased funding for the epilepsies. Sign on today! 👇