CNBP

SAN DIEGO, April 23, 2025 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced a peer-reviewed publication in Genome Research demonstrating that optical genome Mapping (OGM) can be an accurate, cost-effective method for detecting and sizing large repeat expansions, which are a class of structural variation (SV) linked to as many as 40 genetic disorders. Led by Alexander Hoischen and researchers at Radboud University Medical Center in the Netherlands, the study provides one of the most comprehensive evaluations to date of OGM as a single workflow for characterizing large repeat expansions. Researchers evaluated 85 subjects containing known pathogenic expansions in three genes, DMPK (associated with myotonic dystrophy (DM) type 1), CNBP (associated with DM type 2), and RFC1 (associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)). DM is a genetic condition causing progressive muscle weakness and wasting, affecting both skeletal and smooth muscles and CANVAS is a genetic condition characterized by progressive loss of coordination, sensory nerve damage, and impaired balance reflexes. Key Findings: High detection accuracy: OGM identified 84 out of 85 (98.8%) pathogenic repeat expansions.No apparent upper size limit: OGM measured accurately the repeat sizes, even for extremely long expansions exceeding 7,000 repeat units.Somatic instability revealed: Evidence of somatic instability in 36 out of 85 samples, with variability observed in 30% of DMPK samples, 92% of CNBP samples, and 16% of RFC1 samples. These findings provide new insights into the unpredictable nature of these disorders.Single technique workflow: Unlike traditional methods that require multiple gene-specific assays, OGM delivers a single, comprehensive assay that detects large repeat expansions across multiple loci, potentially reducing turnaround times and lowering costs. This publication appears alongside two other OGM studies in Part II of a series released by Genome Research focusing on long-read methods such as OGM and long-read sequencing (LRS) for genome analysis. In an accompanying editorial, the editors of the series describe how OGM has the potential to address long-standing challenges in genome analysis, from structural variation to paralog resolution and repeat expansion detection, sizing and evaluation of their somatic instability. “Repeat expansions are a clinically relevant class of structural variations (SVs). Their size, stability and variability make them challenging to analyze using conventional methods such as PCR, Southern blotting and next-generation sequencing (NGS). LRS may be useful, but LRS can be too costly for routine use,” commented Erik Holmlin, president and CEO of Bionano. “This study demonstrates how can OGM address a critical limitation in genome analysis and lays the foundation for researchers around the world to broaden their scope of OGM use in research to include this class of SVs, which we believe may pave the way for future development of better diagnostics and therapeutics for genetic diseases like repeat expansion disorders.” The full research publication is available at: https://genome-cshlp-org.libproxy1.nus.edu.sg/content/early/2025/03/19/gr.279491.124.full.pdf+html The editorial accompanying the special issue of Genome Research is available at:https://genome-cshlp-org.libproxy1.nus.edu.sg/content/35/4/xi.full.pdf+html About Bionano Bionano is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Company’s mission is to transform the way the world sees the genome through optical genome mapping (OGM) solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. The Company also offers an industry-leading, platform-agnostic genome analysis software solution, and nucleic acid extraction and purification solutions using proprietary isotachophoresis (ITP) technology. Through its Lineagen, Inc. d/b/a Bionano Laboratories business, the Company also offers OGM-based diagnostic testing services. For more information, visit www.bionano.com or www.bionanolaboratories.com. Bionano’s products are for research use only and not for use in diagnostic procedures. Forward-Looking Statements of Bionano Genomics This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “believe,” “can,” “may,” “potential” and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements describe future expectations, plans, results, or strategies, among other things, and in this release include, but are not limited to, statements OGM’s ability to be an accurate, cost-effective method for detecting and sizing large repeat expansions; OGM’s ability to identify pathogenic repeat expansions; OGM’s ability to measure accurately expansion sizes, even for extremely long expansions; OGM’s ability to show evidence of somatic instability; OGM’s ability to deliver a single, comprehensive assay that detects large repeat expansions across multiple loci, reducing turnaround times and lowering costs; the ability of OGM to address critical limitations in genomics analysis; the ability of OGM to pave the way for future development of better diagnostics and therapeutics for genetic diseases like repeat expansion disorders; and other statements not of historical fact. Such statements are subject to a multitude of risks and uncertainties that could cause future circumstances, events, or results to differ materially from those projected in the forward-looking statements. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the impact of adverse geopolitical and macroeconomic events, such as bank failures, the ongoing conflicts between Ukraine and Russia and in the Middle East and related sanctions, regional or global pandemics, uncertain market conditions, including tariffs and inflation, and supply chain disruptions on our business and the global economy; the failure of OGM to be an accurate, cost-effective method for detecting and sizing large repeat expansions; the failure of OGM to identify pathogenic repeat expansions; the failure of OGM to measure accurately expansion sizes, even for extremely long expansions; the failure of OGM to show evidence of somatic instability; the failure of OGM to deliver a single, comprehensive assay that detects large repeat expansions across multiple loci, reducing turnaround times and lowering costs; the failure of OGM to address critical limitations in genomics analysis; the failure of OGM to pave the way for future development of better diagnostics and therapeutics for genetic diseases like repeat expansion disorders; the inability to achieve results similar to those referenced in this press release using the methods described therein; the failure of the publication referenced in this press release to prove to be an important advancement in repeat expansion research; the failure of the method described in this press release to further open researchers’ ability to expand their OGM menu; future publications that contradict the findings of the publication referenced in this press release; the failure of our ability to drive adoption and utilization of optical genome mapping as a replacement to traditional cytogenetic techniques; challenges inherent in developing, manufacturing and commercializing products; our ability to further deploy new products and applications for our technology platforms; our expectations and beliefs regarding future growth of the business and the markets in which we operate; changes in our strategic and commercial plans; our ability to continue as a “going concern,” which requires us to manage costs and obtain significant additional financing to fund our strategic plans and commercialization efforts; our ability to consummate any strategic alternatives; the risk that if we fail to obtain additional financing we may seek relief under applicable insolvency laws; and other risks and uncertainties including those described in our filings with the Securities and Exchange Commission (“SEC”), including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2024 and in other filings subsequently made by us with the SEC. All forward-looking statements contained in this report speak only as of the date on which they were made and are based on management’s assumptions and estimates as of such date. We are under no duty to update any of these forward-looking statements after the date they are made to conform these statements to actual results or revised expectations, except as required by law. You should, therefore, not rely on these forward-looking statements as representing our views as of any date subsequent to the date the statements are made. Moreover, except as required by law, neither we nor any other person assumes responsibility for the accuracy and completeness of the forward-looking statements contained in this press release. CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionano.com Investor Relations:David HolmesGilmartin Group+1 (858) 888-7625IR@bionano.com

An increase in research and development (R&D) activities in myotonic dystrophy is expected to drive market growth by enhancing the understanding of the disease, accelerating drug discovery, and creating innovative treatments. With more R&D, new therapeutic options such as gene therapies, antisense oligonucleotides, and targeted small molecules can be developed, addressing the unmet needs in myotonic dystrophy care. Increased R&D also attracts funding and partnerships, fostering a competitive environment that can lead to improved patient outcomes and market expansion. LAS VEGAS, Nov. 27, 2024 /PRNewswire/ -- DelveInsight's ' Myotonic Dystrophy Pipeline Insight 2024 ' report provides comprehensive global coverage of pipeline myotonic dystrophy therapies in various stages of clinical development, major pharmaceutical companies are working to advance the pipeline space and future growth potential of the myotonic dystrophy pipeline domain. Key Takeaways from the Myotonic Dystrophy Pipeline Report DelveInsight's myotonic dystrophy pipeline report depicts a robust space with 20+ active players working to develop 22+ pipeline therapies for myotonic dystrophy treatment. Key myotonic dystrophy companies such as Avidity Biosciences, Lupin, AMO Pharma, Harmony Biosciences, Arthex Biotech, Dyne Therapeutics, Vertex Pharmaceuticals, Arrowhead Pharmaceuticals, Inc., Pepgen Corporation, Juvena Therapeutics, EditForce, Inc., Kinea Bio, and others are evaluating new myotonic dystrophy drugs to improve the treatment landscape. Promising myotonic dystrophy pipeline therapies such as AOC 1001, Mexiletine, Tideglusib, Pitolisant, ATX-01, DYNE-101, VX-670, ARO-DM1, PGN EDODM1, JUV 161, EF-210, KNA129, and others are under different phases of myotonic dystrophy clinical trials. On November 7, 2024, ARTHEx Biotech S.L., a clinical-stage biotechnology company focused on developing innovative medicines through the modulation of gene expression, announced that the US Food and Drug Administration has granted Rare Pediatric Designation (RPD) to ATX-01 for the treatment of myotonic dystrophy type 1. In November 2024, Dyne Therapeutics announced that the US Food and Drug Administration has cleared the Investigational New Drug application for DYNE-101, which is being evaluated in the ongoing, global Phase I/II ACHIEVE trial in adults with myotonic dystrophy type 1 (DM1). The ACHIEVE trial currently includes 56 participants and is fully enrolled through the 6.8 mg/kg Q8W cohort (approximate ASO dose). In August 2024, PepGen announced that both Health Canada and the United Kingdom Medicines and Healthcare products Regulatory Agency have cleared the Company's clinical trial application (CTA) submissions for the FREEDOM2 trial, and PepGen expects to initiate patient dosing in the second half of 2024. FREEDOM2 is a Phase 2 randomized, double-blind, placebo-controlled, MAD clinical trial evaluating PGN-EDODM1 in approximately 24 adult patients with DM1 in Canada, the United Kingdom, and in the United States, subject to regulatory clearance for the treatment of myotonic dystrophy. In May 2024, Avidity Biosciences announced that the US Food and Drug Administration granted Breakthrough Therapy designation to delpacibart etedesiran (AOC 1001), the company's lead clinical development program, for the treatment of myotonic dystrophy type 1. In April 2024, PepGen presented a poster on the PGN-EDODM1 program at the 14th International Myotonic Dystrophy Consortium (IDMC-14) Meeting titled "FREEDOM-DM1: Phase 1 Study Design to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of PGN-EDODM1 for Myotonic Dystrophy Type 1." In March 2024, Entrada achieved a milestone under its global collaboration with Vertex related to the clinical advancement of Vertex's Phase I/II clinical trial of VX-670, which triggered a USD 75 million payment. The Company expects to receive this payment in the second quarter of 2024. The Company is eligible to receive up to USD 485 million, inclusive of milestones achieved to date, for the successful achievement of certain research, development, regulatory and commercial milestones, and tiered royalties on future net sales for any products that may result from this collaboration agreement. In February 2024, PepGen Inc. announced that the US Food and Drug Administration had granted Fast Track designation to PGN-EDODM1, an investigational candidate for the treatment of myotonic dystrophy type 1. In January 2024, Juvena Therapeutics receives the FDA Orphan Drug Designation for JUV-161 for the treatment of Myotonic Dystrophy Type 1. Request a sample and discover the recent advances in myotonic dystrophy treatment drugs @ Myotonic Dystrophy Pipeline Report The myotonic dystrophy pipeline report provides detailed profiles of pipeline assets, a comparative analysis of clinical and non-clinical stage myotonic dystrophy drugs, inactive and dormant assets, a comprehensive assessment of driving and restraining factors, and an assessment of opportunities and risks in the myotonic dystrophy clinical trial landscape. Myotonic Dystrophy Overview Myotonic dystrophy is a genetic disorder characterized by progressive muscle wasting and weakness. It is caused by mutations in specific genes that lead to an abnormal expansion of repetitive DNA sequences. The two main types of myotonic dystrophy are Myotonic Dystrophy Type 1 (DM1) and Type 2 (DM2). DM1 is caused by a CTG repeat expansion in the DMPK gene, while DM2 is linked to a CCTG repeat expansion in the CNBP gene. Symptoms of myotonic dystrophy can vary but often include muscle stiffness (myotonia), weakness, and atrophy, primarily affecting the distal muscles and those of the face. Additional symptoms may involve cataracts, cardiac arrhythmias, endocrine issues, and cognitive difficulties. Diagnosis typically involves a combination of clinical evaluation, family history assessment, and genetic testing to identify the specific mutations. Electromyography can also be used to detect myotonia. Currently, there is no cure for myotonic dystrophy, and treatment focuses on managing symptoms. This may include physical therapy to maintain muscle function, medications to alleviate myotonia, and regular monitoring for cardiac issues. Genetic counseling is recommended for affected individuals and their families to understand the inheritance patterns and potential risks. Find out more about myotonic dystrophy treatment drugs @ Drugs for Myotonic Dystrophy Treatment A snapshot of the Myotonic Dystrophy Pipeline Drugs mentioned in the report: Learn more about the emerging myotonic dystrophy pipeline therapies @ Myotonic Dystrophy Clinical Trials Myotonic Dystrophy Therapeutics Assessment The myotonic dystrophy pipeline report proffers an integral view of the myotonic dystrophy emerging novel therapies segmented by stage, product type, molecule type, mechanism of action, and route of administration. Scope of the Myotonic Dystrophy Pipeline Report Coverage: Global Therapeutic Assessment By Product Type: Mono, Combination, Mono/Combination Therapeutic Assessment By Clinical Stages: Discovery, Pre-clinical, Phase I, Phase II, Phase III Therapeutics Assessment By Route of Administration: Oral, Intravenous, Subcutaneous, Parenteral, Topical Therapeutics Assessment By Molecule Type: Recombinant fusion proteins, Small molecule, Monoclonal antibody, Peptide, Polymer, Gene therapy Therapeutics Assessment By Mechanism of Action: Myotonin protein kinase expression inhibitors, RNA interference, Sodium channel antagonists, Glycogen synthase kinase 3 beta inhibitors, Histamine H3 receptor antagonists, Histamine H3 receptor inverse agonists, MicroRNA inhibitor, RNA inhibitors, RNA splicing modulators Key Myotonic Dystrophy Companies: Avidity Biosciences, Lupin, AMO Pharma, Harmony Biosciences, Arthex Biotech, Dyne Therapeutics, Vertex Pharmaceuticals, Arrowhead Pharmaceuticals, Inc., Pepgen Corporation, Juvena Therapeutics, EditForce, Inc., Kinea Bio, and others. Key Myotonic Dystrophy Pipeline Therapies: AOC 1001, Mexiletine, Tideglusib, Pitolisant, ATX-01, DYNE-101, VX-670, ARO-DM1, PGN EDODM1, JUV 161, EF-210, KNA129, and others. Dive deep into rich insights for new drugs for myotonic dystrophy treatment, visit @ Myotonic Dystrophy Drugs Table of Contents For further information on the myotonic dystrophy pipeline therapeutics, reach out @ Myotonic Dystrophy Treatment Drugs Related Reports Myotonic Dystrophy Market Myotonic Dystrophy Market Insights, Epidemiology, and Market Forecast – 2034 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key myotonic dystrophy companies, including Lupin, AMO Pharma, Harmony Biosciences, Avidity Biosciences, Dyne Therapeutics, Nexien BioPharma, Locana Inc., Entrada Therapeutics, Arthex Biotech, NeuBase Therapeutics, NeuBase Therapeutics, Enzerna, Astellas Gene Therapies, Dyne Therapeutics, Pepgen Corporation, Sangamo Therapeutics, Syros Pharmaceuticals, among others. Myotonic Dystrophy Epidemiology Forecast Myotonic Dystrophy Epidemiology Forecast – 2032 report delivers an in-depth understanding of the disease, historical and forecasted myotonic dystrophy epidemiology in the 7MM, i.e., the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan. Duchenne Muscular Dystrophy Market Duchenne Muscular Dystrophy Market Insights, Epidemiology, and Market Forecast – 2034 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, as well as the market trends, market drivers, market barriers, and key Duchenne muscular dystrophy companies, including FibroGen, Santhera Pharmaceutical, Italfarmaco, ReveraGen BioPharma, Cumberland Pharmaceuticals, Sarepta Therapeutics, Antisense Therapeutics, Capricor Therapeutics , among others. Duchenne Muscular Dystrophy Pipeline Duchenne Muscular Dystrophy Pipeline Insight – 2024 report provides comprehensive insights about the pipeline landscape, pipeline drug profiles, including clinical and non-clinical stage products, and the key Duchenne muscular dystrophy companies, including Santhera Pharmaceuticals, Sarepta Therapeutics, Italfarmaco, Wave Life Sciences Ltd, FibroGen, Edgewise Therapeutics, Pfizer, Daiichi Sankyo, Sarepta Therapeutics, Inc., ENCell, Taiho Pharmaceutical, Solid Biosciences, Capricor, Nippon Shinyaku, Hansa Biopharma, Ultragenyx Pharmaceutical, Dyne Therapeutics, Entrada Therapeutics, AAVogen, PepGen, Antisense Therapeutics, BioMarin Pharmaceutical, Avidity Biosciences, Sarepta Therapeutics, Dyne Therapeutics, Solid Biosciences Inc, Regenxbio, Stealth BioTherapeutics, among others. About DelveInsight DelveInsight is a leading Business Consultant and Market Research firm focused exclusively on life sciences. It supports pharma companies by providing comprehensive end-to-end solutions to improve their performance. Get hassle-free access to all the healthcare and pharma market research reports through our subscription-based platform PharmDelve . Contact Us Shruti Thakur [email protected] +14699457679 Logo: SOURCE DelveInsight Business Research, LLP WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED