SAN DIEGO and WASHINGTON, May 26, 2020 /PRNewswire/ -- The KCNT1 Epilepsy Foundation, LunaPBC, and Genetic Alliance today announced a program to assemble a patient-led drug discovery community to study disease etiology and develop therapeutic interventions for patients with KCNT1-related epilepsy. The program is being launched in collaboration with Biogen, Inc.
The comprehensive program – inclusive of patients and families, patient advocates, patient-centric data stewardship, and pharmaceutical partners -- is deploying patient-driven trial design to ensure the best clinical and behavioral features and trial endpoints are incorporated in the drug discovery process.
In a program kick-off meeting held in Washington, D.C., prior to the coronavirus pandemic, the organizations aligned around a number of key activities and, led by the KCNT1 Epilepsy Foundation along with patients and their families, began enrollment in the discovery community.
Epilepsy of infancy with migrating focal seizures was first described in 1995. Fifteen years later, KCNT1 gene mutations were identified as the major disease-causing gene of this condition. The data on this condition associated with KCNT1 mutations are heterogeneous and many questions remain unanswered including prognosis and the long-term outcome(s) especially regarding epilepsy, neurological and developmental status and the presence of microcephaly.
The program is focused on reshaping the role and experience of study participants by inviting patients and advocates as partners to help with program inception. This format helps guide researchers towards the most accurate observations and endpoints that will be built into the study design to increase participant engagement and retention, to ensure interventions meet the goals and needs of patients, to capture real-world and patient reported insights, and to facilitate comprehensive, longitudinal study. As covered in MedCity News, this study framework also enables patients to participate without leaving the comfort and safety of their home thereby reducing the hardship on families, increasing access to more participants, and allowing the healthcare system to focus on COVID-19.
"The KCNT1 Epilepsy Foundation is forming a research community, founded on the fact that we parents have a lived-experience of this disease that must inform the research," said Seth Greenblot, who founded the KCNT1 Epilepsy Foundation. "We are calling on all parents and their families to join us to accelerate the quest to alleviate our suffering."
"Genomics data will be studied alongside longitudinal, patient-reported and real-world information to gain a clearer picture of the patient experience and ultimately better characterize the disease. Modern data stewardship is a key aspect of this process to ensure data is always increasing in depth over time and so that many collaborators can access the data for discovery," said Dawn Barry, president and co-founder of LunaPBC, the management company behind health data sharing platform, LunaDNA.
"By incorporating what the patients see as important endpoints, observations, and quality of life goals, trials will better address the needs of these families," said Sharon Terry, chief executive officer and president of Genetic Alliance. "I've been concerned that 'patient-centric' is becoming a buzzword, and not a reality. This collaboration is an exemplar for making it happen."
To learn more and determine eligibility to participate, visit https://kcnt1epilepsy.org to join and help accelerate discovery.
About KCNT1 Epilepsy Foundation The KCNT1 Epilepsy Foundation aims to provide accurate information for parents and physicians about KCNT1 Epilepsy disease mechanisms, symptoms and treatment options. We are learning new things all the time, and work closely with researchers and clinicians to provide the most up-to-date information possible. Additionally, the Foundation works to bring the parent-patient perspective to researchers and industry as they work to bring clinical treatments to market.
About Genetic Alliance Genetic Alliance, a non-profit organization founded in 1986, is a leader in deploying high tech and high touch programs for individuals, families and communities to transform health systems by being responsive to the real needs of people in their quest for health. The alliance is comprised of 10,000 organizations, 1,200 of which are disease and patient advocacy foundations and include community health programs, employee wellness programs, local nonprofits, religious institutions, and community-specific programs to grow and expand their reach and mission.
About LunaDNA LunaDNA is the first health and genomic data platform owned by its community of personal health information donors. LunaDNA empowers individuals to share their health data for medical and quality of life research. As community owners in the LunaDNA platform, members share in the value created from health discoveries and medical breakthroughs. LunaDNA was created by the privately-owned Public Benefit Corporation, LunaPBC, founded in 2017 and headquartered in San Diego, California. The LunaPBC team, investors, and advisors are renowned in the patient-advocacy, health, and science fields, including several former chief executives of Illumina, industry academics, and financial executives.