ARMGO Pharma and the National Institutes of Health have collaborated on a Phase 1b study of Rycal ARM210, a treatment for Ryanodine Receptor Type 1 (RyR1) Related Myopathies (RyR1-RM), an orphan muscle disease. RyR1 is an intracellular calcium-release channel vital to muscle contraction. Mutant RyR1 channels cause intracellular calcium leaks that impair muscle contraction, leading to muscle weakness and loss of function. The trial demonstrated that ARM210 is safe and well-tolerated, and it improved muscle strength and alleviated fatigue in patients with RyR1-RM. ARMGO Pharma is hopeful that ARM210 can also be used to treat Catecholaminergic Polymorphic Ventricular Tachycardia, a genetic life-threatening arrhythmia caused by mutations in RyR2. Read more about this development in the treatment of orphan muscle diseases at https://lnkd.in/gxqfTjiw. #RyanodineReceptor #CalciumChannels #RareArrhythmias #MuscleHealth #MedicalResearch
Pratish Thakore, Ph.D.’s Post
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📢📰 Published by Blood Advances, the objective of this study was to longitudinally evaluate the risk of VTE associated with CHC after its cessation, using validated surrogate biomarkers providing an inference of thrombotic risk, in the PILL-OFF cohort. READ➡️https://lnkd.in/eUPjD7c7 #vte #thrombosis #bloodclot
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Positive results from the phase 1b/2a SELECT-HD trial assessing WVE-003 (Wave Life Sciences), an investigational first-in-class, allele-selective antisense oligonucleotide for Huntington disease, showed a significant reduction in mutant huntingtin protein and preserved healthy protein huntingtin protein in patients with HD, with no serious adverse events. https://lnkd.in/eb-taUTZ
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😎 Wow~ Our customers published a paper in Signal Transduct Target Ther! Let's take a look. 👨🔬 👩🔬 Systemic lupus erythematosus (SLE) is a severe autoimmune disease characterized by systemic inflammatory response, accumulation of autoantibodies, and organ damage. Moreover, Neddylation is an important type of protein post-translational modification (PTM) that has been well documented to regulate T cell-mediated immune responses. However, the role of neddylation in SLE remains unclear. 🧐 👏 👏 This paper revealed for the first time the key mechanism by which Neddylation modification regulates the occurrence of SLE and provided a new potential target for the treatment of SLE. ✔ https://lnkd.in/gb8gQJqH ✔ For more push, please follow #Twitter: https://lnkd.in/gntQ9qE7 ✔ Related Product Recommendation: #Pevonedistat (#MLN4924; https://lnkd.in/g737T-UY); #MG132 (#Z-Leu-Leu-Leu-al; https://lnkd.in/gy33AFtQ); #CD4 Antibody (https://lnkd.in/gG_whANd); #IL1β (https://lnkd.in/gZcE-dDH); #TNFα (https://lnkd.in/ge42cc9Z); #JC1 Mitochondrial Membrane Potential Assay Kit (https://lnkd.in/gefEhc3); #SignalTransductTargetTher #SLE #Neddylation #PTM #MCE #MedChemExpress
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Medical Science Liason|Scientific Advisor with creative-solving problem-solving abilities, building relationships, communication of complex scientific and medical information
Defects in regulatory T cells (Tregs) have been linked to autoimmune diseases, including systemic lupus erythematosus (SLE). Interleukin 2 (IL-2) is crucial for the development and function of Tregs. Due to the constitutive expression of the alpha chain of the IL-2 receptor (CD25) on Tregs, a preferential CD25 agonist could be beneficial in expanding the Treg population in patients with autoimmune conditions. This Phase 1b trial evaluates efavaleukin alfa, an Fc-IL-2 mutant that selectively binds to CD25, to assess its safety, tolerability, pharmacokinetics, and pharmacodynamics in 35 patients with SLE. The results showed that the peak expansion of FoxP3+ Tregs occurred eight days post-dose. Treatment with efavaleukin alfa significantly increased the CD25^hi Treg population by 53.8-fold, while conventional T cells expanded by 2.9-fold. #Lupusresearch #Tregresearch #Autoimmunity #SLE #Fusionproteins #Smallmolecules # #Efavaleukinalfa https://lnkd.in/eH_JEeHy
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Single nucleotide polymorphisms Are you interested in laboratory diagnostic of single nucleotide polymorphisms (SNPs)? SNPs play a crucial role in genetic variations and are connected with an individual’s response to certain drugs or environmental factors such as toxins. They also help predicting the risk of developing diseases such as heart disease, diabetes, and cancer. We prepeared informational material about SNPs and their detection by PCR method. There you will find features of our RealBest Genetic kits serving for SNPs detection. #wearevectorbest #reagents #globalhealth #biotechnology #clinicaldiagnostics #RealBest #SNP #customers #vectorbest
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Absolutely thrilled to present our paper accepted for publication in #JMedChem. #Strongyloidiasis is a neglected tropical disease caused primarily by the roundworm Strongyloides stercoralis. It is estimated to infect more than 200 million people worldwide with up to 2.5% of these infections progressing into a hyperinfection syndrome and a mortality rate of 90% if untreated. In preclinical models, the activation of ssDAF-12 receptor was able to suppress infection and to reduce lethality. Despite these remarkable evidences, only scarce efforts have been devoted to the field. In this work, we report the discovery of unprecedented ssDAF-12 modulators that have the potential to interfere with the lifecycle of the nematode Strongyloides stercoralis and to modulate the parasitic infection making it vulnerable to therapeutic intervention. We provide novel insights into the SAR profile and properties of steroidal modulators that might enable progress in targeting ssDAF-12 for treating #parasitism. It has been a long journey with a great collaborative effort from the chemical #synthesis of challenging #steroids to #computationalchemistry, #screening assays and #metabolic studies. Thanx and congrats to all involved Giada Ceccarelli, Laura Goracci, Andrea Carotti, Federico Paccoia, Daniela Passeri, Marco Cipolloni, Stefano Di Bona, Gabriele Cruciani, roberto pellicciari Università degli Studi di Perugia Tes Pharma S.r.l. Molecular Horizon #MedChem #Strongyloidiasis #Parasitism #Drugdiscovery Have a look: https://lnkd.in/gFVpXkpJ
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🔬 Enhanced Enzyme Delivery for Pompe Disease Pompe disease is a severe genetic disorder caused by the buildup of glycogen in the body's cells, leading to progressive muscle weakness and respiratory problems. Even if treated with the current standard treatment, enzyme replacement therapy (ERT), those with infant-onset Pompe rarely survive beyond adolescence. At Sutura Therapeutics, we're pioneering improved treatments for Pompe disease using our innovative stapled peptides. By conjugating the therapeutic enzyme to these peptides we have been able to significantly enhance its effectiveness and delivery to the muscle cells. A fluorescent reporter protein vividly demonstrates this advancement, showcasing how our peptides can achieve greater cellular uptake. Stay connected with us to learn more about how our solutions are transforming the landscape of Pompe disease treatment. #PompeDisease #RareDiseases #HealthcareInnovation
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Recent Research Advances of Fabry Disease - Pathogenesis Dear readers, We would like to share a nice Review with you "Neuropathy and pain in Fabry disease " https://lnkd.in/gZKxKunJ (click to download the PDF for free) from Dr. Nurcan Üçeyler, which we hope it will be helpful and useful to your research. Our journal welcomes high-quality articles, we sincerely invite you to contribute an article related to rare disease or orphan drugs to our journal. To fully support our authors to publishing high quality articles in our journal, the invited articles will undergo standard peer review process and enjoy fast publishing service. About RDODJ: https://lnkd.in/g6_xPjbs Rare Disease and Orphan Drugs Journal always welcome your submissions. #rare disease #orphan drugs #Fabry disease
Neuropathy and pain in Fabry disease
oaepublish.com
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Co-Director, UVA Health Aortic Disease Program | Associate Professor of Surgery, Division of Cardiothoracic Surgery, Department of Surgery, University of Virginia School of Medicine | Opinions are my own
Quadragenarian with nonsyndromic, genetically yet to be defined early onset thoracic aortic disease, with chronic Stanford type B/DeBakey type IIIb aortic dissection, with rapid growth of associated extent II thoracoabdominal #aorticaneurysm (#TAAA), treated with open extent II TAAA repair with a 28/10/10/8/8 mm Coselli 4-branched Gelweave thoracoabominal graft, with island patch anastomosis to T9-10 intercostals, aorto-celiac & aorto-SMA bypasses using the 10 mm branches, and aortic-R renal & aorto-L renal bypasses using the 8 mm branches, under left heart bypass, selective visceral perfusion, & cold renal perfusion #aortaed
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8moWay to repurpose and find additional indications for a relatively rare disease drug.