This week we are going to focus on Pillar 4 – Accelerating and Preparing for Clinical Trials, the final Pillar in the Roadmap to a Cure 2.0.
Pillar 4 is often overlooked but wildly important!
This Pillar encompasses a wide range of work including:
- Creation of animal models and cell lines for each genotype
- University labs around the world are creating animal models and cell lines for each AS genotype, or type, of AS. No potential therapeutic can be tested in humans without these!
- Angelman Syndrome Biomarker and Outcome Measure Consortium (ABOM)
- This consortium brings together hundreds of individuals invested in Angelman syndrome including pharmaceutical companies, clinicians, translational research teams, regulatory experts, and patient advocacy groups, in order to achieve advanced endpoints and biomarkers, which are required to accurately measure the effect of a drug has on patients in clinical trials.
- Learn more about ABOM here.
- Global Angelman Syndrome Registry (GASR)
- The GASR is an invaluable resource that helps to assist pharmaceutical companies in understanding the scope of the disease based on data contributed by those that know the patients best, caregivers. This data helps to understand details about patients, their diagnosis, their symptoms, their therapies, their milestones – and (hopefully!) to gather demographic information about individuals living with AS around the globe, no matter where they live.
- Learn more about GASR here.
- Natural History Study
- The Angelman Syndrome Natural History study was started in 2006 by clinicians looking to understand the symptoms of Angelman syndrome and how these symptoms change over time. After 16 years, nearly 500 patients are enrolled in this study, being evaluated over many years to prospectively perform neurodevelopmental testing that would be used as outcome measures in clinical trials. This clinician reported data gathered in a prospective manner has been paramount in helping to design clinical trials and understand how patients perform on these various outcome measures. This project has been funded by the NIH, FDA and now the collaborative team of the ABOM.
- Learn more about the Natural History Study here.
- Newborn Screening
- Screening every baby in a known population will give us the true incident rate of AS. This rate helps pharmaceutical companies estimate how many individuals could potentially benefit from treatments being developed. In addition, in the future, babies screened for AS at birth could be given these approved therapies immediately, potentially before symptom onset, which could profoundly impact the trajectory of their life, while also encouraging more companies to consider working hard on therapeutic options for AS.
- Rush Pediatric Neuroscience F.A.S.T. Center for Translational Research
- FAST established a new clinical trial and translational research effort for rare neurodevelopmental disorders, a first-of-its-kind flagship center to be directed by Dr. Elizabeth Berry-Kravis, named the Rush F.A.S.T. Center for Translational Research. It will be the global headquarters for training individuals in how to run neurogenetic clinical trials and deliver innovative interventional therapies that require novel delivery methods and specialized care.
- Learn more about the center here.