DEE-P Connections

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! 👇

What Does Better Look Like? In this new publication from our team at The Inchstone Project, one of our Primary Investigators, Jenny Downs, led a study we conducted with families who had children with SCN2A-related DEE in partnership with SCN2A- The FamilieSCN2A Foundation. As new drugs for Developmental and/or Epileptic Encephalopathies (#DEEs) are being developed, it is critical that we understand what improvements are desired by individuals and their families to improve quality of life. There is currently no information on what changes in health and development are important for children with severe DEEs and their families. We asked parents of children with an SCN2A-related DEE about important differences in their child’s functioning that would guide whether they would participate in clinical trials testing traditional therapies (lower risk) or disease-modifying gene therapies (higher risk). Check out the paper to see what we learned! A huge thank you to the #SCN2A families who participated, our wonderful partners at FamilieSCN2A Foundation and the whole Inchstone team - Anne Berg, Natasha N. Ludwig, Ph.D., Mary Wojnaroski, JayEtta Hecker, Chere Chapman, Gunes Sevinc, Sara Te, Rebecca Hommer, Gabrielle Conecker #qualityoflife #counteveryinchstone #clinicalresearch #clinicaltrials #meaningfulchange