Brief CV: Dr. Llamusí co-founded Arthex in December 2019 and was CEO of the company until May 2023 when the company raised its Series B. Since then Dr. Llamusi is CSO of Arthex Biotech. During the initial steps of the project that led to Arthex foundation, she was granted different competitive acceleration programs (FIPS and Caixaimpulse) to assess the feasibility of the entrepreneurial project, including training in business management and development, IPP, financial and regulatory issues. She holds an MSc and Ph.D. in Biochemistry from the University Miguel Hernández. During her Ph.D. program, she focused on the molecular bases of neuronal regeneration, and subsequently worked in the Department of Genetics as a postdoctoral researcher. She has dedicated more than 13 years investigating the pathogenic mechanisms of rare neuromuscular diseases and approaches to treatment. During this period, she produced more than 30 scientific articles and seven patents.
Abstract: Arthex biotech is developing ATX-01, an investigational drug targeting miR-23b, an overexpressed therapeutic target in myotonic dystrophy type 1 (DM1). DM1 is caused by non-coding CTG repeat expansions in the DMPK gene, but pathogenesis involves MBNL1 loss of function due to aberrant binding to CUG repeats and miRNA-mediated downregulation. Our approach aimed to increase MBNL1 levels by antagonizing the repressive effects of miR-23b. We identified top antimiR candidates through a multi-step screening, evaluating various oligonucleotides with diverse sequences, lengths, chemical modifications, and lipid conjugations. Lead candidate ATX-01 demonstrated significant biological activity in preclinical models, including HSALR and DMSXL model mice and human primary myoblasts, upregulating MBNL1 protein levels in muscle and nervous system. Favorable toxicology and in vivo distribution profiles position ATX-01 as a promising therapeutic option for DM1.
