CAMBRIDGE, Mass.–(BUSINESS WIRE)–Q-State Biosciences (“Q-State”), a discovery technology and therapeutics company advancing programs for the treatment of serious nervous system disorders, today announced the publication of new research describing the successful design, screening and characterization of splice modulating antisense oligonucleotides (ASOs) as a potential therapeutic approach for SPG49/HSAN9 (spastic paraplegia 49, more recently classified as hereditary sensory and autonomic neuropathy type IX), an ultra-rare neurodevelopmental and neurodegenerative disorder. The paper, titled “Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models,” is published in Molecular Therapy Nucleic Acids, a Cell Press partner journal.
Mutations in the human TECPR2 gene can lead to loss of TECPR2 protein production and development of a disorder known as SPG49/HSAN9. This serious genetic illness is characterized by intellectual disability, impaired speech, motor delays, central sleep apnea, and premature death. The published study demonstrated that Q-State’s exon skipping ASO met the objective of successfully bypassing the genetic sequence associated with the disease-causing mutation in patient-derived neurons, restoring production of a shorter TECPR2 protein variant which retained the expression pattern of the full-length TECPR2 protein. Q-State’s lead ASO molecule was also active in non-human primates. This is the first time such findings, including the demonstration of ASO-mediated exon skipping in the brain of primates, have been reported.
Luis Williams, PhD, Q-State’s Head of Biology, is lead author of the paper.
About Q-State Biosciences
Q-State Biosciences is a technology-enabled therapeutics company that applies its proprietary, unique-in-world BRITETM discovery engine to identify genetically targeted therapeutics for neurodevelopmental, neurodegenerative and other serious disorders of the CNS. By integrating our advanced human neuronal models, custom measurement bioengineering, computational neuroscience, and powerful AI/machine learning, we create the unique, ultra-large neuronal datasets necessary to unlock unique insights into the biological complexity of the brain, its associated disease states, and the creation of transformational medicines. For more information, please visit www.qstatebio.com.