Last update 21 Mar 2024

Myopathy, Centronuclear, Autosomal Recessive

Last update 21 Mar 2024

Basic Info

Synonyms

AR-CNM, Autosomal recessive centronuclear myopathy, Autosomal recessive centronuclear myopathy (disorder)

+ [8]

Introduction

A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement.

Clinical Trials associated with Myopathy, Centronuclear, Autosomal Recessive

EUCTR2020-004608-32-DE / Unknown statusPhase 1/2

A Phase 1/2, multicenter, open-label, dose-confirmation trial to evaluate the safety and preliminary efficacy of DYN101 in subjects 2 to 17 years of age with centronuclear myopathy caused by mutations in MTM1 or DNM2. - Research Using an Investigational Treatment for CNM (DyNaMic)

Start Date-

Sponsor / Collaborator

Dynacure SAStartup

NCT03090165 / RecruitingPhase 1/2

A Phase I/II, Single Arm, Non-randomized Study of Ribociclib (LEE011), a CDK 4/6 Inhibitor, in Combination With Bicalutamide, an Androgen Receptor (AR) Inhibitor, in Advanced AR+ Triple-negative Breast Cancer: Big Ten Cancer Research Consortium BRE15-024

This is an open label, multi-institutional, single arm phase II trial of ribociclib in combination with bicalutamide in advanced AR+ triple-negative breast cancer. No randomization or blinding is involved.

Start Date07 May 2018

Sponsor / Collaborator

Giant Ten International Co. Ltd.

[+3]

100 Clinical Results associated with Myopathy, Centronuclear, Autosomal Recessive

100 Translational Medicine associated with Myopathy, Centronuclear, Autosomal Recessive

0 Patents (Medical) associated with Myopathy, Centronuclear, Autosomal Recessive

171

Literatures (Medical) associated with Myopathy, Centronuclear, Autosomal Recessive

12 Mar 2024·Neurology

Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 Children.

Article

Author: Jamie I Verhoeven ; Jasper Kramer ; Juergen Seeger ; Joery P Molenaar ; Hilde Braakman ; Erik-Jan Kamsteeg ; Richard J Rodenburg ; Benno Kusters ; Suzanne Koudijs ; Baziel G Van Engelen ; Corrie E Erasmus ; Nicol C Voermans

Brody disease is a rare autosomal recessive myopathy, caused by pathogenic variants in the ATP2A1 gene. It is characterized by an exercise-induced delay in muscle relaxation, often reported as muscle stiffness. Children may manifest with an abnormal gait and difficulty running. Delayed relaxation is commonly undetected, resulting in a long diagnostic delay. Almost all published cases so far were adults with childhood onset and adult diagnosis. With diagnostic next-generation sequencing, an increasing number of patients are diagnosed in childhood. We describe the clinical and genetic features of 9 children from 6 families with Brody disease. All presented with exercise-induced delayed relaxation, reported as difficulty running and performing sports. Muscle strength and mass was normal, and several children even had an athletic appearance. However, the walking and running patterns were abnormal. The diagnostic delay ranged between 2 and 7 years. Uniformly, a wide range of other disorders were considered before genetic testing was performed, revealing pathogenic genetic variants in ATP2A1. To conclude, this case series is expected to improve clinical recognition and timely diagnosis of Brody disease in children. We propose that ATP2A1 should be added to gene panels for congenital myopathies, developmental and movement disorders, and muscle channelopathies.

04 Feb 2024·Annals of clinical and translational neurology

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Article

Author: Sandra Donkervoort ; Payam Mohassel ; Melanie O'Leary ; Devon E Bonner ; Taila Hartley ; Nicole Acquaye ; Astrid Brull ; Tahseen Mozaffar ; Mario A Saporta ; David A Dyment ; Jacinda B Sampson ; Sander Pajusalu ; Christina Austin-Tse ; Kyle Hurth ; Julie S Cohen ; Kirsty McWalter ; Jodi Warman-Chardon ; Amy Crunk ; A Reghan Foley ; Undiagnosed Diseases Network ; Andrew L Mammen ; Matthew T Wheeler ; Anne O'Donnell-Luria ; Carsten G Bönnemann

OBJECTIVE:

ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants were reported as a rare cause of core myopathy of variable clinical onset, although the pathomechanism remains to be elucidated. The possibility of a recessively inherited ACTN2-myopathy has also been proposed in a single series.

METHODS:

We provide clinical, imaging, and histological characterization of a series of patients with a novel biallelic ACTN2 variant.

RESULTS:

We report seven patients from five families with a recurring biallelic variant in ACTN2: c.1516A>G (p.Arg506Gly), all manifesting with a consistent phenotype of asymmetric, progressive, proximal, and distal lower extremity predominant muscle weakness. None of the patients have cardiomyopathy or respiratory insufficiency. Notably, all patients report Palestinian ethnicity, suggesting a possible founder ACTN2 variant, which was confirmed through haplotype analysis in two families. Muscle biopsies reveal an underlying myopathic process with disruption of the intermyofibrillar architecture, Type I fiber predominance and atrophy. MRI of the lower extremities demonstrate a distinct pattern of asymmetric muscle involvement with selective involvement of the hamstrings and adductors in the thigh, and anterior tibial group and soleus in the lower leg. Using an in vitro splicing assay, we show that c.1516A>G ACTN2 does not impair normal splicing.

INTERPRETATION:

This series further establishes ACTN2 as a muscle disease gene, now also including variants with a recessive inheritance mode, and expands the clinical spectrum of actinopathies to adult-onset progressive muscle disease.

15 Dec 2023·Chinese medical journal

Estrogen receptor beta suppresses the androgen receptor oncogenic effects in triple-negative breast cancer.

Article

Author: Feng Xu ; Kun Xu ; Lingling Fan ; Xintong Li ; Yiqiu Liu ; Fang Yang ; Chengjun Zhu ; Xiaoxiang Guan

BACKGROUND:

Triple-negative breast cancer (TNBC) is an aggressive type of breast cancer associated with poor prognosis and limited treatment options. The androgen receptor (AR) has emerged as a potential therapeutic target for luminal androgen receptor (LAR) TNBC. However, multiple studies have claimed that anti-androgen therapy for AR-positive TNBC only has limited clinical benefits. This study aimed to investigate the role of AR in TNBC and its detailed mechanism.

METHODS:

Immunohistochemistry and TNBC tissue sections were applied to investigate AR and nectin cell adhesion molecule 4 (NECTIN4) expression in TNBC tissues. Then, in vitro and in vivo assays were used to explore the function of AR and estrogen receptor beta (ERβ) in TNBC. Chromatin immunoprecipitation sequencing (ChIP-seq), co-immunoprecipitation (co-IP), molecular docking method, and luciferase reporter assay were performed to identify key molecules that affect the function of AR.

RESULTS:

Based on the TNBC tissue array analysis, we revealed that ERβ and AR were positive in 21.92% (32/146) and 24.66% (36/146) of 146 TNBC samples, respectively, and about 13.70% (20/146) of TNBC patients were ERβ positive and AR positive. We further demonstrated the pro-tumoral effects of AR on TNBC cells, however, the oncogenic biology was significantly suppressed when ERβ transfection in LAR TNBC cell lines but not in AR-negative TNBC. Mechanistically, we identified that NECTIN4 promoter -42 bp to -28 bp was an AR response element, and that ERβ interacted with AR thus impeding the AR-mediated NECTIN4 transcription which promoted epithelial-mesenchymal transition in tumor progression.

CONCLUSIONS:

This study suggests that ERβ functions as a suppressor mediating the effect of AR in TNBC prognosis and cell proliferation. Therefore, our current research facilitates a better understanding of the role and mechanisms of AR in TNBC carcinogenesis.

News (Medical) associated with Myopathy, Centronuclear, Autosomal Recessive

01 Aug 2023

·www.prnewswire.com

Genesis MedTech announces FDA Breakthrough Device designation for the J-Valve™ Transfemoral System

BURLINGAME Calif., Aug. 1, 2023 /PRNewswire/ -- Genesis MedTech, a leading medical device company, today announced that its J-Valve™ Transfemoral (TF) System has been granted Breakthrough Device designation by the U.S. Food and Drug Administration (FDA). This innovative heart valve has been granted Breakthrough Device designation for the proposed indication of treatment of severe native aortic regurgitation (AR) and AR-dominant mixed aortic valve disease in patients who are judged by a heart team to be eligible for the device and to be at high risk for open surgical aortic valve replacement. This novel technology is designed for patients with aortic valvular disease. Aortic regurgitation is a common condition that can lead to heart failure. The J-Valve™ transcatheter aortic valve replacement procedure is performed through a minimally invasive transvascular approach, without the need for open-heart procedure or extracorporeal circulation. The system utilizes an anchor mechanism and a stent frame that expands to attach the device to a failing valve. By helping to restore normal blood flow out of the heart and into the body, the J-Valve™ TF system can potentially reduce and/or improve symptoms of heart failure including breathing trouble, chest pain and fatigue. J-Valve™ TF System consists of two key components including the J-Valve™ TF Bioprosthesis and the J-Valve™ TF Delivery Device. The bioprosthesis is comprised of bovine pericardium leaflets, a nitinol stent frame covered with polyester fabric and a nitinol anchor ring. The delivery device is used to position the bioprosthesis in the native aortic valve. The J-Valve™ TF System being granted a Breakthrough Device designation underscores the significance of this innovative development for cardiovascular patients. Under the program, JC Medical will receive prioritized review and interactive communication with the FDA throughout the premarket review phase. To achieve Breakthrough Device designation a device must demonstrate a reasonable expectation that it could provide for more effective treatment or diagnosis of the disease or condition identified in the proposed indications for use. "We are hopeful that these designations will aid in providing timely treatment for a condition that currently lacks any transcatheter valves approved in the US. We look forward to continuing our work with the FDA to bring this life-saving technology to patients in need," stated Dr. Mark A. Turco, CEO JC Medical and President of Vascular Intervention North America at Genesis MedTech. Warren Wang, Chairman & CEO of Genesis MedTech Group shared, "We believe the Breakthrough Device designation for the J-Valve™ TF System is a testament to the innovative spirit and dedication of our team at Genesis MedTech. We are committed to developing cutting-edge medical devices that address unmet clinical needs and improve patient outcomes, and this designation is a significant milestone in that journey." ABOUT GENESIS MEDTECH & JC MEDICAL Based in Burlingame California, JC Medical Inc., under Genesis MedTech Group, is a structured heart company that is primarily engaged in the design and development of transcatheter valve replacement products for the minimally invasive treatment of structural heart diseases. Genesis MedTech Group is a medical device company headquartered in Singapore. Founded by a group of professionals and entrepreneurs with MedTech experience globally and in Asia, the company's product portfolio focuses on multi-therapy medical device products for emerging markets with sales and distribution through its established commercial network. Genesis MedTech Group covers the entire industry value chain of research and development, production, quality management, supply chain, marketing, and sales. For more information, visit & SOURCE Genesis MedTech

Breakthrough Therapy

25 Jan 2023

·www.biospace.com

Methicillin-Resistant Staphylococcus aureus Infection Pipeline Clinical Trials Featuring 25+ companies

New York, USA, Jan. 25, 2023 (GLOBE NEWSWIRE) -- Methicillin-Resistant Staphylococcus aureus Infection Pipeline Clinical Trials Featuring 25+ companies| DelveInsight Methicillin-resistant Staphylococcus aureus (MRSA) is an infection caused by antibiotic-resistant strains of the pathogen Staphylococcus aureus. Rising incidence of Methicillin-resistant Staphylococcus aureus (MRSA) infections is creating health concerns among the population. Manufacturers are focusing on product development and launches for the treatment of Methicillin-resistant Staphylococcus aureus (MRSA). DelveInsight’s 'Methicillin-Resistant Staphylococcus aureus Infection Pipeline Insight 2023' report provides comprehensive global coverage of available, marketed, and pipeline methicillin-resistant Staphylococcusaureus infection therapies in various stages of clinical development. Major pharmaceutical companies are working to advance the pipeline space and future growth potential of the methicillin-resistant Staphylococcusaureus infection pipeline domain. Key Takeaways from the Methicillin-Resistant Staphylococcus aureus Infection Pipeline Report DelveInsight’s methicillin-resistant Staphylococcusaureus infection pipeline report depicts a robust space with 25+ companies and 28+ pipeline drugs for methicillin-resistant Staphylococcusaureus infection treatment. Key methicillin-resistant Staphylococcusaureus infection companies include Trellis Bioscience, LegoChem Biosciences, Aptorum Group, ContraFect, Crystalgenomics, Cellics Therapeutics, MicuRx, Oxford Antibiotic Group, Destiny Pharma, TSRL, Inc., TAXIS Pharmaceuticals, Basilea Pharmaceutica, Helperby Therapeutics, Akagera Medicines, Histogen, Alphamab Co. Ltd, Biocidium Pharmaceuticals, and others are evaluating novel methicillin-resistant Staphylococcusaureus infection drugs candidate to improve the treatment landscape. Promising methicillin-resistant Staphylococcusaureus infection pipeline therapies in various stages of development include TRL1068, Delpazolid, ALS 4, Teicoplanin inhalation, CG 400549, SAAP 148, Exebacase, Marinus, CTI 005, Iclaprim, MRX 4, MRX 7, XF-73, TXA709, ARV-1801, ACX-375C, ABX-605, IBT-V02, BCM-0184, Contezolid, TetramOX, Ceftobiprole, HY-004B8b, HY-005B8a, CG-549, Emricasan, KN043, and several others. Ceftobiprole medocaril, the prodrug of the active moiety ceftobiprole, is a cephalosporin antibiotic for intravenous administration, with rapid bactericidal activity against a wide range of Gram-positive and Gram-negative bacteria. This includes methicillin-susceptible and resistant Staphylococcus aureus (MSSA, MRSA) and susceptible Pseudomonas spp. In October 2022, Basilea Pharmaceutica announced the results from Phase III ERADICATE study, evaluating ceftobiprole in the treatment of adult patients with bacterial bloodstream infections caused by Staphylococcus aureus. Results for the primary efficacy outcomes were consistent in key subgroups including in patients with MSSA or MRSA bloodstream infections at baseline, and in various categories of underlying conditions such as skin and skin structure infections, abdominal abscesses, chronic dialysis, septic arthritis, osteomyelitis, definite right-sided infective endocarditis and in patients with persistent SAB. Basilea also planned to submit a New Drug Application (NDA) for ceftobiprole to the US Food and Drug Administration (FDA) around year-end 2022. Exebacase (CF-301) being developed by ContraFect Corporation is a lysin with potent activity against Staphylococcus aureus ("Staph aureus"). Exebacase has the potential to be the first-in-class of a new treatment for patients with Staph aureus bacteremia. The FDA has granted Breakthrough Therapy designation to exebacase for the treatment of MRSA bloodstream infections (bacteremia), including right-sided endocarditis, when used in addition to SOC antistaphylococcal antibiotics in adult patients, based on the final data from the Phase II superiority trial of exebacase. In July 2022, Destiny Pharma plc announced that it had received an award from the Cystic Fibrosis Foundation. The research project will establish the potential of the Company’s proprietary XF-73 drug as a novel treatment for cystic fibrosis patients infected with methicillin-resistant Staphylococcus aureus (MRSA). CTI-005 is for the treatment of Methicillin Resistance Staphylococcus Aureus (MRSA) Pneumonia and has been granted IND allowance from the US FDA. The potent RBC-NS has the membrane lipids and receptors that a normal red blood cell has, however, the high surface-volume ratio of the RBC-NS allows it to act as a decoy. This characteristic allows the RBC-NS to bind and neutralize toxins, auto-antibodies, and bacterial infections. The pore-forming toxins emitted by MRSA can be effectively absorbed and neutralized by RBC-NS. Request a sample and discover the recent advances in methicillin-resistant Staphylococcusaureus infection treatment drugs @ Methicillin-Resistant Staphylococcus aureus Infection Pipeline Report The methicillin-resistant Staphylococcusaureus infection pipeline report provides detailed profiles of pipeline assets, a comparative analysis of clinical and non-clinical stage methicillin-resistant Staphylococcusaureus infection products, inactive and dormant assets, a comprehensive assessment of driving and restraining factors, and an assessment of opportunities and risks in the methicillin-resistant Staphylococcusaureus infection pipeline landscape. Methicillin-Resistant Staphylococcus aureus Infection Overview Methicillin-resistant Staphylococcus aureus (MRSA) infections are caused by bacteria that have attained resistance from several antibiotics that treat diseases caused by Staphylococcus bacteria. The common patients of Methicillin-resistant Staphylococcus aureus (MRSA) infections are patients that have been in hospitals or healthcare settings for a long duration where the bacteria is found commonly. MRSA infections are known as healthcare-associated MRSA (HA-MRSA) if infected in hospitals. Such infections can spread to healthcare workers through invasive procedures, which are further transmitted to several patients by touching and operating with bare hands. Other MRSA infections occur in a considerable population of healthy people. People associated with community-associated MRSA (CA-MRSA) show symptoms appearing as painful skin boils. It further spreads through physical contact between individuals. The population at higher risk includes people surrounded by a significant number of people and childcare workers. MRSA infections might look like red bumps, pimples, or spider bites, accompanied by pus and fever. Find out more about methicillin-resistant Staphylococcusaureus infection treatment drugs @ Drugs for Methicillin-Resistant Staphylococcus aureus Infection Treatment A snapshot of the Methicillin-Resistant Staphylococcus aureus Infection pipeline drugs mentioned in the report: Drug Company Phase MoA RoA Ceftobiprole Basilea Pharmaceutica Phase III Cell wall inhibitors; Peptidyltransferase inhibitors Intravenous CG 549 CrystalGenomics Phase II Enoyl-ACP reductase inhibitors; Fatty acid synthase expression inhibitors; Fatty acid synthetase complex inhibitors Oral BCM-0184 Biocidium Pharmaceuticals Phase I NA Oral/Topical TRL1068 Trellis Bioscience Phase I Bacterial biofilm inhibitors Intravenous ALS 4 Aptorum Group Phase I Bacterial virulence inhibitors Oral EVX-B1 Evaxion Biotech Preclinical Immunostimulants NA Emricasan Histogen Preclinical Apoptosis inhibitors; Caspase inhibitors NA TarO inhibitor Prokaryotics Discovery Cell membrane inhibitors; Cell wall inhibitors NA Learn more about the emerging methicillin-resistant Staphylococcusaureus infection pipeline therapies @ Methicillin-Resistant Staphylococcus aureus Infection Clinical Trials Methicillin-Resistant Staphylococcus aureus Infection Therapeutics Assessment The methicillin-resistant Staphylococcus aureus infection pipeline report proffers an integral view of methicillin-resistant Staphylococcusaureus infection emerging novel therapies segmented by stage, product type, molecule type, mechanism of action, and route of administration. Scope of the Methicillin-Resistant Staphylococcus aureus Infection Pipeline Report Coverage: Global Therapeutic Assessment By Product Type: Mono, Combination, Mono/Combination Therapeutic Assessment By Clinical Stages: Pre-clinical, Discovery, Discontinued, Inactive, Phase I, Phase II, Phase III Therapeutics AssessmentBy Route of Administration: Oral, Parenteral, Intravenous, Subcutaneous, Topical. Therapeutics AssessmentBy Molecule Type: Monoclonal Antibody, Peptides, Polymer, Small molecule, Gene therapy Therapeutics AssessmentBy Mechanism of Action: Cell wall inhibitors; Peptidyltransferase inhibitors, Enoyl-ACP reductase inhibitors; Fatty acid synthase expression inhibitors; Fatty acid synthetase complex inhibitors, Bacterial biofilm inhibitors, Bacterial virulence inhibitors, Immunostimulants, Apoptosis inhibitors; Caspase inhibitors, Cell membrane inhibitors; Cell wall inhibitors Key Methicillin-Resistant Staphylococcus aureus Infection Companies: Trellis Bioscience, LegoChem Biosciences, Aptorum Group, ContraFect, Crystalgenomics, Cellics Therapeutics, MicuRx, Oxford Antibiotic Group, Destiny Pharma, TSRL, Inc., TAXIS Pharmaceuticals, Basilea Pharmaceutica, Helperby Therapeutics, Akagera Medicines, Histogen, Alphamab Co. Ltd, Biocidium Pharmaceuticals, and others. Key Methicillin-Resistant Staphylococcus aureus Infection Pipeline Therapies: TRL1068, Delpazolid, ALS 4, Teicoplanin inhalation, CG 400549, SAAP 148, Exebacase, Marinus, CTI 005, Iclaprim, MRX 4, MRX 7, XF-73, TXA709, ARV-1801, ACX-375C, ABX-605, IBT-V02, BCM-0184, Contezolid, TetramOX, Ceftobiprole, HY-004B8b, HY-005B8a, CG-549, Emricasan, KN043, and others. Dive deep into rich insights for new drugs for methicillin-resistant Staphylococcusaureus infection treatment; visit @ Methicillin-Resistant Staphylococcus aureus Infection Drugs Table of Contents 1. Methicillin-Resistant Staphylococcus aureus Infection Pipeline Report Introduction 2. Methicillin-Resistant Staphylococcus aureus Infection Pipeline Report Executive Summary 3. Methicillin-Resistant Staphylococcus aureus Infection Pipeline: Overview 4. Analytical Perspective In-depth Commercial Assessment 5. Methicillin-Resistant Staphylococcus aureus Infection Pipeline Therapeutics 6. Methicillin-Resistant Staphylococcus aureus Infection Pipeline: Late Stage Products (Pre-registration) 7. Methicillin-Resistant Staphylococcus aureus Infection Pipeline: Late Stage Products (Phase III) 7.1 Ceftobiprole: Basilea Pharmaceutica 8. Methicillin-Resistant Staphylococcus aureus Infection Pipeline: Mid Stage Products (Phase II) 8.1 CG549: CrystalGenomics 9. Methicillin-Resistant Staphylococcus aureus Infection Pipeline: Early Stage Products (Phase I) 9.1 TRL1068: Trellis Bioscience 10. Methicillin-Resistant Staphylococcus aureus Infection Pipeline Therapeutics Assessment 11. Inactive Products in the Methicillin-Resistant Staphylococcus aureus Infection Pipeline 12. Company-University Collaborations (Licensing/Partnering) Analysis 13. Key Companies 14. Key Products in the Methicillin-Resistant Staphylococcus aureus Infection Pipeline 15. Unmet Needs 16. Market Drivers and Barriers 17. Future Perspectives and Conclusion 18. Analyst Views 19. Appendix For further information on the methicillin-resistant Staphylococcusaureus infection pipeline therapeutics, reach out @ Methicillin-Resistant Staphylococcus aureus Infection Treatment Drugs Related Reports Methicillin-Resistant Staphylococcus aureus Epidemiology Forecast Methicillin-Resistant Staphylococcus aureus Epidemiology Forecast – 2032 report delivers an in-depth understanding of the disease, historical and forecasted epidemiology, and the methicillin-resistant Staphylococcusaureus epidemiology trends. Methicillin-Resistant Staphylococcus aureus Infection Market Methicillin-Resistant Staphylococcus aureus Market Insights, Epidemiology, and Market Forecast – 2032 report delivers an in-depth understanding of the market trends, market drivers, market barriers, and key methicillin-resistant Staphylococcusaureus infection companies, including Trellis Bioscience, LegoChem Biosciences, Aptorum Group, Allergan, iNtRON Biotechnology, Neupharma, ImmuPharma, Lytix Biopharma, CrystalGenomics, AIMM Therapeutics, among others. Staphylococcus aureus Bacteremia Pipeline Staphylococcus aureus Bacteremia Pipeline Insight – 2023 report provides comprehensive insights about the pipeline landscape, pipeline drug pro including clinical and non-clinical stage products, and the key Staphylococcus aureus Bacteremia companies, including ContraFect, Armata Pharmaceuticals, iNtRON Biotechnology, Durata Therapeutics, Cipher Pharmaceuticals, XBiotech, Basilea Pharmaceutica, Genentech, among others. Hospital Acquired Methicillin-Resistant Staphylococcus aureus Infections Pipeline Hospital Acquired Methicillin-Resistant Staphylococcus aureus Infections Pipeline Insight – 2023 report provides comprehensive insights about the pipeline landscape, pipeline drug pro including clinical and non-clinical stage products, and the key Hospital Acquired Methicillin-Resistant Staphylococcus aureus Infections companies, including Trellis Bioscience, LegoChem Biosciences, Aptorum Group, Allergan, iNtRON Biotechnology, Neupharma, ImmuPharma, Lytix Biopharma, CrystalGenomics, AIMM Therapeutics, among others. 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Connect with us atLinkedIn Contact Us Shruti Thakur info@delveinsight.com +1(919)321-6187

Phase 3Phase 2Clinical Result

16 Sep 2021

·www.biospace.com

Dynacure to Present Preclinical Data on Disease Progression Modelling and ASO-Mediated Dynamin 2 Knockdown at World Muscle Society (WMS) Meeting

STRASBOURG, France and PHILADELPHIA, Sept. 16, 2021 /PRNewswire/ -- Dynacure, a clinical-stage company focused on developing and commercializing novel therapies to transform the lives of patients with rare diseases who have limited or no treatment options, will present three posters at the 26th Annual Congress of the World Muscle Society (WMS). The WMS meeting is being held in a virtual format on September 20-24, 2021. "We are grateful to the WMS for providing an important platform for neuromuscular disease research as we work to advance the understanding of disease progression, prevalence, and potential therapeutic approaches," said Dynacure's Chief Scientific Officer Belinda Cowling, Ph.D. "These are patient communities in desperate need of treatment options, and we are working with urgency to increase our fundamental knowledge of these diseases and to support ongoing innovation." Dynacure's poster presentations at WMS are as follows: 'Statistical modelling of disease progression in a preclinical model of myotubular myopathy' will be presented during the 'Congenital myopathies – Centronuclear myopathies' poster session on Thursday, September 23 between 16:30 – 18:30 BST / 11:30 – 13:30 EDT. 'ASO-mediated Dnm2 knockdown ameliorates the centronuclear myopathy phenotype of Dnm2RW/+ mice in a dose-dependent manner after disease onset' will be presented during the 'Congenital myopathies - Centronuclear myopathies' poster session on Thursday, September 23 between 16:30 – 18:30 BST / 11:30 – 13:30 EDT. 'An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG11, SPG7 and SPG15' will be presented during the 'Other NMDs' poster session on Thursday, September 23 between 16:30 – 18:30 BST / 11:30 – 13:30 EDT. Dynacure is developing DYN101, an investigational antisense product candidate designed to reduce the expression of dynamin 2 (DNM2), for the treatment of Myotubular and Centronuclear Myopathies (CNM). DYN101 is currently being evaluated in a Phase 1/2 clinical trial, UNITE-CNM (DYN101-C101), at multiple clinical sites in Europe. The FDA has recently accepted Dynacure's Investigational New Drug (IND) application, and sites in the U.S. are currently being explored. DYN101 has been granted orphan drug designation by the FDA and European Medicines Agency (EMA) and rare pediatric disease designation by the FDA. There is currently no FDA- or EMA-approved therapeutic treatment for CNM. About Myotubular and Centronuclear Myopathies Myotubular and Centronuclear Myopathies (CNM) are serious, rare, life-threatening disorders that affect skeletal muscles from birth. CNM derives its name based on the central location of the muscle fiber nucleus, which is an abnormal finding observed in muscle biopsies. People with CNM begin experiencing muscle weakness at any time from birth to early adulthood and many patients die within the first 18 months of life. Patients who survive longer require intense medical management and nearly uninterrupted support, including permanent ventilation, brace with head support and feeding tubes. The disease is driven by mutations in multiple genes including MTM1, DNM2 and BIN1 and Dynacure scientists have discovered a link between an increase in DNM2 protein and the direct cause of the disease 4. The three classical forms of CNM are X-linked myotubular myopathy (XLCNM), autosomal dominant CNM (ADCNM), and autosomal recessive CNM (ARCNM), which are all associated with poor prognosis. Myotubular and Centronuclear Myopathies affect an estimated 4,000 to 5,000 patients in the European Union, United States, Japan and Australia1. About DYN101 DYN101, an investigational antisense oligonucleotide product candidate using Ionis Pharmaceuticals' proprietary antisense technology, is designed to reduce the expression of dynamin 2 (DNM2) for the treatment of CNM. Preclinical studies have shown that DYN101 has the potential to be disease modifying in CNM, with preclinical activity observed in animal models of XLCNM and ADCNM 2,3 . Prevention and reversion of the disease was observed with a dose-dependent improvement in whole body strength and mice survival. The development plan for DYN101 was designed to be broad and it is the only known program investigating a treatment for the majority of CNM patients, comprised of those who have XLCNM or ADCNM. DYN101 is currently under clinical investigation in several European countries. DYN101 has been granted Orphan Drug designations by the FDA and EMA and rare pediatric disease designation by the FDA. About Dynacure Dynacure is a clinical-stage company focused on developing and commercializing novel therapies to transform the lives of patients with rare diseases who have limited or no treatment options. The Dynacure team leverages its proven track record in rare disease drug development to build a pipeline of novel drug candidates. Dynacure is developing DYN101, an investigational antisense product candidate designed to reduce the expression of dynamin 2 protein for the treatment of Myotubular and Centronuclear Myopathies, in strategic collaboration with Ionis Pharmaceuticals. Dynacure is also building a complementary research portfolio targeting other rare disorders, including its DYN201 program for the treatment of Hereditary Spastic Paraplegias (caused by mutations in the SPG11 gene). Dynacure is headquartered in Strasbourg, France with a corporate office in Philadelphia, PA, USA. For more information, please visit . 1. Neuromuscul Disord. 2018 Sep;28(9):766-777. doi: 10.1016/j.nmd.2018.06.012. Epub 2018 Jul 2. Nat Commun. 2017 Jun 7;8:15661. doi: 10.1038/ncomms15661. 3. Proc Natl Acad Sci U S A. 2018 Oct 23;115(43):11066-11071. doi: 10.1073/pnas.1808170115. Epub 2018 Oct 4. (Cowling et al 2014 JCI)

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