Charcot-Marie-Tooth Disease, Type 2H

ABS-0871granted orphan drug designation (ODD) and rare pediatric disease designation (RPDD) SAN DIEGO, CA, USA I March 03, 2025 I Actio Biosciences, a clinical-stage biotechnology company leveraging its one to many paradigm to genetics and precision medicine to develop new therapeutics that target shared underlying biology in both rare and common diseases, today announced that the first participant has been dosed in the Phase 1 healthy volunteer clinical trial of its lead program, ABS-0871, a TRPV4 inhibitor, for the treatment of TRPV4-positive Charcot Marie Tooth Disease subtype 2C (CMT2C), a severe peripheral nerve disorder. “People living with the subtype 2C of CMT, a genetically defined, phenotypically distinct form of hereditary neuropathy CMT​, face a number of unique and debilitating symptoms, including muscle weakness, ambulatory difficulties, vocal cord paralysis, respiratory complications, and bladder urgency. We have designed ABS-0871 to address the underlying genetic cause of disease, therefore potentially offering patients an option that could eliminate symptoms and significantly improve daily quality of life,” said David Goldstein, CEO. “We are thrilled to initiate this trial – the very first clinical initiation for Actio – for a terribly burdensome genetic disease that lacks approved therapeutic treatment options today.” “The initiation of this Phase 1 clinical trial is an incredibly important step for our STAR Alliance Partner, Actio Biosciences, and CMT2C patients and their families,” said Charcot-Marie-Tooth Association CEO Sue Bruhn, Ph.D. “We envision a world where effective treatments provide symptomatic relief to patients along with altering the course of their disease, demonstrating a sustained therapeutic effect over a patient’s lifetime.” The Phase 1 trial is a randomized, double-blind, placebo-controlled, single- and multiple-ascending dose Phase 1 trial in healthy volunteers that will evaluate safety, tolerability, pharmacokinetics, and measures of pharmacodynamic activity. ABS-0871 is a potentially once-daily oral small-molecule TRPV4 inhibitor being evaluated for the treatment of CMT2C and TRPV4-related bone diseases. TRPV4 is an ion channel that regulates the concentration of calcium inside cells, which is important for many cellular processes. Mutations in the TRPV4 gene cause an increase in channel activity and disruption in the blood-neural barrier, which leads to TRPV4-positive CMT2C disease as early as infancy. ABS-0871 is designed to inhibit the overactivated ion channel activity to restore vocal cord, respiratory, bladder and other functions. Evaluation of this program in novel construct-valid preclinical CMT2C rare disease models has demonstrated marked improvements in motor function and mobility, compared to untreated controls. ABS-0871 was granted both ODD and RPDD in August 2024. About Actio Biosciences Actio Biosciences is leveraging advances in precision medicine to develop new therapeutics that target shared genetics in rare and common diseases—bringing meaningful medicines from one to many. Applying its expertise in genetics, drug discovery and data sciences, Actio seeks to identify programs where both biological and technical risk can be minimized to streamline the drug development process and bring forward exceptionally potent and precisely targeted therapeutics. Actio is advancing two lead rare disease programs – ABS-0871 and ABS-1230 – with first-in-class potential for the treatment of Charcot-Marie-Tooth Disease, Type 2C (CMT2C) and KCNT1-related epilepsy, respectively. Founded in October 2021, the San Diego-based company is guided by leaders in genetics and drug development and backed by top healthcare investors. For more information, please visit ActioBiosciences.com . SOURCE: Actio Biosciences