TBD: Focus on Patient Journey in Rare Disease Research: Epilepsy Syndromes
Vice President, Medical & Scientific Strategy
Syneos Health United States
Advances in science and care for 300+ mil rare disease patients are unique land for innovation. Patient-needs-led perspective is crucial for understanding challenges in healthcare system. The RD future builds on the balance between push of science and business and the pull of patient’s needs.
Research is focused on patients with rare treatment-resistant catastrophic epilepsy syndromes such as Dravet syndrome , LGS, Doose syndrome, CDKL5 deficiency disorder (CDD), infantile spasms (IS), tuberous sclerosis complex (TSC), to name a few developmental and epileptic encephalopathies (DEEs).
There are approximately 7000 distinct types of RDs with over a thousand Central Nervous System (CNS) rare diseases. Epilepsy is not considered an RD, however there are multiple etiologies and once phenotype, genotype and other factors are considered, there are many causes of epilepsy which are, ultimately, rare diseases. Next generation sequencing has accelerated gene-based research and development, helping to identify genetic mutations such as CDKL5 Deficiency Disorder, however even with having a causative gene identified, research on specific gene mutations and phenotype subtypes made apparent that specific therapy for one may not work or be appropriate for the other. Additionally, genetic testing for infantile epilepsies has increased awareness of the incidence of each rare epilepsy. Key factor in classifying epilepsy is etiology. Some cases may be associated with a specific gene (e.g., about 80% of patients with Dravet Syndrome have underlying sodium channel subunit gene SCN1A mutation), but in majority of other cases the exact gene is difficult to pinpoint. Additionally, there may be a combination of more etiologies in an individual patient, each of them potentially requiring different treatment/precision medicine approach.
The highest unmet need in epilepsy have included targeted treatments for treatment-resistant epilepsy and specific epilepsy syndromes. The treatment landscape is evolving towards therapies targeting specific treatment-resistant epilepsy types with a wide range of modalities. Gene therapy and monoclonal antibodies are playing a key role. Drug repurposing, a hot topic today, is directing the research pathways for patients’ benefit. Accelerated translation of technologies into available, accessible, affordable treatment is ongoing, but decision-making processes should adapt to make curative treatments available faster. Precision medicine in finding cures for epilepsy syndromes and other CNS rare diseases continues. In addition, more emphasis is put on patient journey throughout the trial and their life. Patients voice and empowerment in rare disease diagnosis odyssey takes energy, strength, and resilience. Patients with rare disease are being involved into research processes including the aspects pertaining to data collection and sharing. Rare Disease patients are experts on what it is like to live with their condition. To ease the burden for the families who need to travel long distance to sites, home health nursing may be used. The ongoing research in targeted therapies has provided major breakthroughs and new avenues of research are opening with providing hope for many patients.