DEE-P Connections

Today, our Co-Founder, Gabi, will be presenting at the Boston Globe Media Rare Disease Summit shining a light on the broader DEE and rare epilepsy community. ??

Our Inchstone team is proud to share that we have yet another publication from our pilot study with SCN2A- The FamilieSCN2A Foundation. This newest article establishes the feasibility of using Goal Attainment Scaling (GAS) in those with developmental and epileptic encephalopathies (DEEs) - which are epilepsy disorders marked by difficult to control seizures and developmental delays and/or regression. This was a huge team effort lead by our Principal Investigators and our partners at Ardea Outcomes. We are so grateful to the 10 SCN2A families who participated in this study and to the Fam for their incredible partnerOur Inchstone team is proud to share that we have yet another publication from our pilot study with the SCN2A community. This newest article establishes the feasibility of using Goal Attainment Scaling (GAS) in those with developmental and epileptic encephalopathies (DEEs) - which are epilepsy disorders marked by difficult to control seizures and developmental delays and/or regression. This was a huge team effort lead by our partners at Ardea Outcomes and our Principal Investigators. We are so grateful to the 10 SCN2A families who participated in this study and to the FamilieSCN2A Foundation for their incredible partnership. You can read the article here: https://lnkd.in/g5nVWCPw And learn more about The Inchstone Project, a project of DEE-P Connections, at our website - https://lnkd.in/gknqB7C6 Chere Chapman Gunes Sevinc Leah Schust Myers Anne Berg Jenny Downs Natasha N. Ludwig, Ph.D. Mary Wojnaroski JayEtta Hecker Kari Knox Michelle George Lindsey?Evans?Ariela (Ari) Kaiser, PhD?Katherine Paltell, PhD? #ClinicalResearch #OutcomeMeasures #COAs #IndividualizedOutcomes #ClinicalTrials #DEEs

We are so grateful to the incredible team at Longboard Pharmaceuticals for their vision and hard work to push forward this promising cross-DEE treatment and their incredible partnership along the way engaging consistently and openly with the developmental and epileptic encephalopathy (DEE) community. We are also so excited that the team at Lundbeck could see the incredible potential here for a treatment for MANY with DEEs who currently are unable to access any other clinical trials or emerging treatments. DEE-P Connections has proudly worked with this team to help advance a movement for better treatments for more families sooner. #ClinicalTrials #ClinicalResearch #DEE #DEEs

We are grateful to the Epilepsy Foundation for making this important statement. DEE-P Connections stands with you and also "stand with the disability community in advocating for equal opportunities and ensuring that policies are based on facts, not stigma."

Don't miss this exciting update on the important work of The Inchstone Project today at 5pm ET! We are a multidisciplinary team working to increase access to clinical trials and ensure that we are able to measure the inchstones of progress, not just milestones, of those who are more profoundly impacted by disease. #Innovation #TheInchstoneProject #ClinialResearch #ClinicalTrials #COAs #CountEveryInchstone

Please join us at 5pm ET to hear an update on the critical work happening by The Inchstone Project!

Please join us this Thursday for an update on The Inchstone Project, a DEE-P Connections project working to ensure that every inchstone of progress, not just milestones, are captured in clinical assessments - both in clinical care and clinical trials. Our global, multidisciplinary team has been engaging widely with the #RareDisease, #RareEpilepsy and #NeuordevelopmentalDisorders communities and #caregivers to learn more about what their loved ones CAN do, what better would look like and the desire to see more inclusive clinical trials as the development of #PrecisionMedicine and #GeneTherapy grow. We are also working closely with the #FDA to advocate for the use of novel/adapted tools that can measure the small but meaningful changes our loved ones make and can help ensure that treatments that are helping can make it to market. We will share the latest findings from our research as well as how we are working to develop/adapt a new set of tools to better measure communication in those severely impacted by rare disorders. #TheInchstoneProject #CountEveryInchstone #GeneTherapies #NDDs #DEEs #ClinicalCare #ClinicalResearch #OutcomeMeasures #COAs #MeaningfulChange

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