RYR2

Researchers present abstracts and poster sessions showcasing research and clinical solutions Joint session planned with Illumina HOUSTON, March 04, 2024 (GLOBE NEWSWIRE) -- Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing, will showcase its latest advancements and research discoveries at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting on March 12-16 in Toronto, Canada. The presentations shed light on cutting-edge developments in genetic analysis, diagnostic interpretation, and clinical results, underscoring Baylor Genetics’ mission to translate scientific innovation into accessible clinical solutions that improve patient outcomes and advance precision diagnostics. Exhibit Theater Presentation In a joint Exhibit Theatre Session, Christine Eng, M.D., Chief Medical Officer and Chief Quality Officer at Baylor Genetics, will speak about “Preparing for a Genome World | AI and Informatics Automation at the Core.” The session will take place in Exhibit Theater 2, presented by Illumina, Inc., on Thursday, March 14, from 11:55 a.m. to 12:25 p.m. (EST). Panel Presentation In a panel presentation titled, “Think Rare: Solving the Undiagnosed Cases Beyond Exome or Genome Sequencing,” Pengfei Liu, Ph.D., associate clinical director of research at Baylor Genetics, will participate on March 13 from 4:00 – 5:30 p.m. (EST) in Meeting Room 701. He will present on, “The Utility of Transcriptome RNA-Seq Analysis in Disease Diagnostics and Variant Interpretation,” from 4:30 – 4:45 p.m. (EST) and participate in the panel discussion to follow at 5:15 p.m. (EST). Poster Presentations March 14, 10:30 a.m. – 12:00 p.m. (EST) Detection of Single-Gene Copy Number Variations Through High-Resolution Exon-Targeted Chromosomal Microarray Analysis Primary Author: Dr. Matthew Hoi Kin Chau Novel Presentation of Dextrocardia in TGIF1 Holoprosencephaly Primary Author: Dr. Casey Thornton Pathogenic ZIC2 Polyalanine Expansion Detected by Exome Sequencing in a Family with Multi-Generation Holoprosencephaly Primary Author: Dr. Nichole Owen More Than an Extra Chromosome: Unexpected Multiple Diagnoses in Individuals with Down Syndrome Primary Author: Dr. Liesbeth Vossaert March 15, 10:30 a.m. - 12:00 p.m. (EST) Development of a Comprehensive Gene-/Disease-Specific Analysis and Knowledge Base to Enhance the Efficiency and Accuracy of Sequence Variant Interpretation and Clinical Reporting Primary Author: Dr. Xi Luo Phenotype Expansion or Multiple Diagnosis: Experience from Additional Findings in Patients with Common Aneuploidies Primary Author: Dr. Xiaonan Zhao Heterozygous Deletion of Valine at Position 2321 of RYR2 in Two Siblings with Sudden Cardiac Death Primary Author: Dr. Eric Kao Positive Findings in Clinical Mitochondrial Genome Testing by NGS Primary Author: Dr. Yue Wang PMP22 Single Exon Deletion in a Proband with Hematologic Malignancy and Family History of Charcot-Marie-Tooth Disease Primary Author: Dr. Katharina Schulze "The insights and research findings we share at ACMG 2024 spotlight the power of ongoing collaboration with leading industry partners, children’s hospitals, healthcare providers, academic and research organizations," said Kengo Takishima, President and Chief Executive Officer of Baylor Genetics. "These presentations reflect our ongoing commitment to advancing the field of genetics and empowering patients, providers, and partners with insights and innovations to transform healthcare and improve lives." Baylor Genetics invites attendees to visit its exhibit at Booth #1200, as well as attend presentations and poster session to learn more about research, offerings and advancements in whole genome and exome sequencing, reproductive health, critical care, oncology, disease-specific panels and complementary solutions. The company will host a networking breakfast on Thursday, March 14. Customers and partners interested in attending the breakfast can request an invitation and register here or inquire onsite at the Baylor Genetics booth. Learn more about ACMG’s Annual Clinical Genetics Meeting through the conference website and visit the Baylor Genetics’ website to explore the company’s genetic testing capabilities. About Baylor Genetics A pioneer of precision diagnostics for over 45 years, Baylor Genetics is a leading diagnostic genomics partner offering a full spectrum of clinically relevant genetic testing, including Whole Genome Sequencing, Whole Exome Sequencing, and focused panels. A joint venture of H.U. Group Holdings, Inc. and Baylor College of Medicine, which has the #1 NIH-funded Department of Molecular and Human Genetics, Baylor Genetics couples the fastest and most comprehensive precision diagnostics options with the support of genetic counselors to help clinicians and their patients avoid a lengthy diagnostic odyssey, guide medical management, and make sure no patient with a genetic disorder gets left behind. Its test menu spans from family planning, pregnancy, neonatal and pediatric testing, oncology, and specialized test options. Baylor Genetics is located in Houston’s Texas Medical Center and serves clients in 50 states and 16 countries.

ARMGO Pharma Publishes Positive Phase 1b Trial Results of Rycal® ARM210 for the Treatment of Ryanodine Receptor 1 Related Myopathies Phase 1b open label trial confirms safety and tolerability of 120 mg and 200 mg dosing of ARM210 daily in patients with Ryanodine Receptor 1 Related Myopathies Provides first signs of clinical efficacy improving fatigue and proximal muscle strength in patients at 200 mg daily Corroborates allosteric mechanism of action of Rycal® ARM210 to restore muscle function by repairing mutated ‘leaky’ Ryanodine Receptor 1 channels January 29, 2024 – ARMGO Pharma, Inc. (ARMGO), a clinical stage biopharmaceutical company advancing a novel class of small molecule drugs known as Rycals®, announced today the publication of the results from a Phase 1b study of its Rycal ARM210 (also known as S48168), for the treatment of Ryanodine Receptor 1 Related Myopathies (RYR1-RM), an orphan muscle disease. The data was published in a paper entitled ‘Rycal S48168 (ARM210) for RYR1-related myopathies: A phase one, open-label, dose-escalation trial’ authored by Dr Joshua Todd et al in the peer reviewed Journal eClinicalMedicine, part of the Lancet family of publications. The paper reviews data from the Phase 1b study of ARM210 and its novel allosteric mechanism of action (MoA) targeting the root cause of RYR1-RM: mutated Ryanodine Receptor 1 (RYR1). The RYR1 gene encodes RyR1, an intracellular calcium-release channel that becomes leaky in muscle diseases. Intracellular calcium leaks caused by mutant RyR1 channels impair muscle contraction leading to muscle weakness and loss of function, and activate toxic pathways that damage muscle, causing the symptoms in RYR1-RM. The Phase 1b, open-label, dose-escalation trial confirmed safety, tolerability and pharmacokinetics of 120 and 200 mg dosing of ARM210 daily over for 29 days in adult men and women affected with RYR1-RM. Importantly, it also demonstrated preliminary efficacy in the higher dose group in two hallmark symptoms of RYR1-RM: 1) significant alleviation of fatigue assessed by PROMIS-fatigue t-scores and 2) improved proximal muscle strength assessed by physical shoulder abduction exam (Medical Research Council grading). These results warrant further development of ARM210 as a potential disease modifying treatment for RYR1-RM in a randomized, placebo-controlled Phase 2 trial. The completed Phase 1b trial was conducted in collaboration with the National Institute of Neurological Disorders and Stroke (NINDS) and the National Institutes of Health (NIH) under a Cooperative Research and Development Agreement (CRADA), with the support of the RYR-1 Foundation, Pittsburgh, PA, USA. “We are very pleased with the results of the RYR1-RM trial conducted together with the NIH, as the study has confirmed the safety and tolerability of ARM210, but most importantly, it has demonstrated for the first time that our Rycal®, ARM210, can reverse symptoms of this devastating, chronic muscle disease in a short treatment period. That is very promising”, said Gene Marcantonio, M.D., Ph.D., Chief Executive Officer of ARMGO Pharma. “We look forward, therefore, to rapidly continuing the development of ARM210 to bring this potential first treatment to RYR1-RM patients with the support of the RYR-1 Foundation and the patient community.” Michael F. Goldberg, M.D., M.P.H., Co-Chair of Research of the RYR-1 Foundation added, “We are elated by the publication of this important study, as it represents a beacon of hope for the many individuals and families from around the world who are affected by RYR1-RM. We look forward to the next stages in the development of this important drug.” Further information about this Phase 1b trial can be found online at: https://clinicaltrials.gov/study/NCT04141670. The trial was supported by Intramural Research Programs of the NIH/NINDS, NIH/NINR, a NIH Clinical Center Bench to Bedside Award (2017-551673) and ARMGO’s previous collaboration partner Les Laboratoires Servier. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Publication reference: Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial, Todd et al, eClinicalMedicine https://www.thelancet.com/journals/eclinm/article/PIIS2589-5370(24)00012-9/fulltext ARM210 (S48168) is a small molecule of the Rycal class, owned and developed by ARMGO for the treatment of Ryanodine Receptor mediated diseases such as RYR1-RM. It is an allosteric modulator that binds preferentially to leaky RyR channels and repairs the leak, as previously demonstrated in vitro in muscle biopsies from RYR1-RM patients. ARM210 (S48168) is currently undergoing Phase 2 clinical development for a second orphan indication, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a genetic arrhythmia caused by mutations in RYR2, the cardiac calcium channel gene. ARM210 (S48168) was awarded orphan drug designation for RYR1-RM in 2018 by the FDA and for CPVT in 2020. ARMGO also has a rare pediatric disease designation for CPVT. ARMGO Pharma, Inc., is a privately held biopharmaceutical company dedicated to developing novel small-molecule therapeutics to treat cardiac, and musculoskeletal disorders characterized by leaky Ryanodine Receptor (RyR) calcium channels. The Company’s proprietary drugs, known as Rycals®, are a new class of oral agents that repair these leaky calcium channels. ARM210, ARMGO’s most advanced Rycal, is currently in clinical development for two rare and orphan diseases, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a life-threatening cardiac disease and RYR1-Related Myopathy (RYR1-RM) a severe muscle disease. ARMGO Pharma has an exclusive, worldwide license from Columbia University for its RyR technology based on the research of founding scientist Andrew R. Marks, M.D. The Pittsburgh, Pennsylvania-based 501(c)(3) public charity was launched in October 2014. It is currently the only organization that exists solely to advocate for and serve the needs of individuals affected by RYR-1-related diseases (RYR-1-RD), the most common cause of congenital myopathy. The RYR-1 Foundation supports research leading to an effective treatment or a cure for RYR-1-RD. To achieve this mission, The RYR-1 Foundation has several goals: 1) Support Research: The RYR-1 Foundation makes grants to researchers interested in RYR-1-RD. Developing a patient registry is also key to promoting clinical trials of potential therapies. 2) Medical Professional Education: The vast majority of medical professionals have never heard of RYR-1-RD. The RYR-1 Foundation raises awareness through resources on our website, including the latest medical literature, as well as direct meetings with medical professionals around the world. 3) Patient/Family Support and Advocacy: Due to the rarity of RYR-1-RD, receiving this diagnosis can be an anxiety-provoking and isolating experience for an affected patient and their families. The RYR-1 Foundation serves as a resource for patients and their families through our website, other forms of social media, and family conferences. The content above comes from the network. if any infringement, please contact us to modify.

Trial to investigate the safety and efficacy of ARM210 for the treatment of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Lead molecule ARM210 repairs ‘leaky’ Ryanodine Receptor (RyR) channels to restore intracellular calcium signaling in cardiac and musculoskeletal disorders ARDSLEY, N.Y.--(BUSINESS WIRE)-- ARMGO Pharma, Inc. (ARMGO), a clinical stage biopharmaceutical company advancing a novel class of small molecule drugs known as Rycals®, announced today the enrollment of the first patient in a Phase 2 proof of concept clinical trial using its Rycal ARM210 (also known as S48168), for the treatment of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). The trial, performed at the Amsterdam University Medical Center (Amsterdam UMC), Netherlands and the Mayo Clinic, Rochester MN, USA will investigate the safety and efficacy of ARM210 in CPVT. CPVT is a rare genetic heart disease causing arrhythmia. It affects 1:10,000 people with a fatality rate of 30-50% by the age of 40 if left untreated. CPVT is caused by dysregulation of intracellular calcium handling in cardiomyocytes resulting mainly from mutations in Ryanodine Receptor 2 (RyR2), an intracellular calcium-release channel. Such mutations render RyR2 channels leaky, leading to inappropriate channel opening during periods of exercise or stress, resulting in severe and often fatal arrhythmias. ARM210 is a potential disease modifying therapy for CPVT as it repairs leaky RyR2 channels. By binding and stabilizing the leaky channel, ARM210 can restore normal function, as demonstrated in animal models and in high resolution structures of mutant RyR2. In addition to CPVT, this unique mechanism of ARM210 has potential use in other RyR-mediated cardiac and skeletal muscle diseases, such as the genetic muscle disorder Ryanodine Receptor 1-Related Myopathy (RYR1-RM). "This trial represents an important milestone for ARMGO and the CPVT community, potentially providing a disease modifying treatment for CPVT and validating ARM210’s unique mechanism of action for Ryanodine Receptors" stated Gene Marcantonio, M.D. Ph.D., Chief Executive Officer of ARMGO Pharma. “We are looking forward to advancing this important clinical program in partnership with the leading CPVT experts Arthur Wilde, M.D., Ph.D. and Michael Ackerman, M.D., Ph.D. and we are confident in the success of this trial. In addition, we are building our portfolio to strengthen ARMGO’s position as a pioneer of Rycal-based treatments for Ryanodine Receptor-related disorders.” ARMGO was granted orphan drug designation as well as rare pediatric disease designation by the FDA in 2020 for the use of ARM210 as a potential treatment for patients with CPVT. The phase 2 trial is supported in part by an Orphan Products Development (OPD) grant from the FDA (1R01FD007279). Further information about the trial can be found at with identifier - NCT05122975. ENDS View source version on businesswire.com: Contacts Sarah Jeffery Tel: +44 (0)7771 730919 E-mail: sarah.jeffery@zymecommunications.com Source: ARMGO Pharma, Inc. View this news release online at: