Okur-Chung neurodevelopmental syndrome

New study will use Unravel's AI platform to stratify patients into subgroups based on their likelihood to respond to prioritized drugs identified in earlier phase of research. BOSTON, Aug. 28, 2024 /PRNewswire/ -- Unravel Biosciences, Inc., ("Unravel"), an AI-enabled therapeutics company established to advance drugs for complex diseases, and the CSNK2A1 Foundation ("Foundation") today announced that they are expanding their drug discovery collaboration to now stratify Okur-Chung Neurodevelopmental Syndrome (OCNDS) patients into subgroups based on their predicted response to selected drugs. Through a previously announced collaboration, Unravel's proprietary BioNAV™ drug discovery platform used RNA data from patient-derived cells and mouse models to identify in silico drug hits. The Unravel study revealed that patient response to predicted drugs may vary significantly based on the location of their specific CSNK2A1 gene mutation causing OCNDS. The Foundation independently confirmed several in silico hits in a Drosophila fruit fly animal model of OCNDS that have the potential for clinical benefit through a screen with Dr. Clement Chow at the University of Utah. As part of its rareSHIFT™ discovery services, Unravel will utilize its proprietary nasal swab collection methodology in the new project to collect RNA transcriptomes from OCNDS patients and matched healthy family members. The data will be processed using BioNAV™ to identify drug candidates most likely to work for patients with specific genetic mutations. This project focuses on the most prevalent OCNDS-causing mutation, K198R, located in the activation segment of CSNK2A1. Currently the Foundation has over 70 individuals registered with this specific variant. "Given that even monogenetic disorders have substantial variability in how they clinically present and respond to drugs, having a data-driven preview of drug response in real patients is essential to clinically derisk preclinical programs like this," said Richard Novak, Ph.D., Unravel Co-Founder and CEO. "By matching each patient to a drug candidate, we will increase the probability of success in clinical trials and reduce the time and cost of developing meaningful therapies for OCNDS patients." "This innovative approach allows us to move beyond a one-size-fits-all model, offering the possibility of more personalized and effective therapies for our community," explained Gabrielle Rushing, Ph.D., CSNK2A1 Foundation Science Program Director. "The insights gained from stratifying patients by their specific genetic mutations will be invaluable in our ongoing mission to accelerate the development of meaningful treatments for OCNDS." First described in 2016, OCNDS is an ultra-rare genetic syndrome caused by a mutation on chromosome 20 in the CSNK2A1 gene. OCNDS affects every aspect of life, with symptoms ranging from mild to severe and can include the inability to speak or delayed speech, global developmental delay, epilepsy, autism spectrum disorder traits, behavioral challenges, hypotonia, feeding difficulty, and severe sleep disruption. To date, there is no treatment for OCNDS. While the overall prevalence of OCNDS is not fully known, over 250 individuals worldwide are currently registered with the Foundation. About Unravel Biosciences Unravel Biosciences is the first rapid prototyping therapeutics company, integrating AI systems biology computation with rapid in vivo screening and clinical validation of discovered targets with unprecedented efficiency. Unravel leverages its proprietary BioNAV™ platform combining target and drug discovery, preclinical screening and patient stratification to find treatments for complex diseases. Unravel's platform has led to four clinical trials starting in 2024. Unravel's platform developed RVL002, a first-in-class new small molecule targeting mitochondrial metabolism, and RVL027, a molecule targeting a novel mechanism to treat dystonias. The rareSHIFT™ program provides platform access to foundation and biotech partners to accelerate and clinically derisk therapeutics. and About CSNK2A1 Foundation CSNK2A1 Foundation is focused on finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives. CSNK2A1 Foundation is a 501(c)(3) non-profit organization that is operated and funded by a committed team of volunteers, advocates, and researchers. To date, the foundation has registered over 250 individuals with OCNDS in its patient registry worldwide. SOURCE Unravel Biosciences, Inc.