Organ Health Sciences Group Journals’ Post

🔬 Advancing Therapies for Lysosomal Storage Diseases: The Role of Cyclodextrins This week, let’s delve into the fascinating world of cyclodextrins and their potential impact on treating lysosomal storage diseases (LSDs). These rare genetic disorders arise from defects in lysosomal function, leading to an abnormal buildup of toxic materials within cells. Approximately 50 different types of LSDs exist, including Gaucher disease, Fabry disease, and Pompe disease. Symptoms can vary widely but often include developmental delay, movement disorders, and early death. Treatment Approaches - Enzyme Replacement Therapy: Administering missing enzymes. - Substrate Reduction Therapy: Reducing the accumulation of toxic substances. - Supportive Care: Managing symptoms and complications. Early Diagnosis: Crucial for improving prognosis and quality of life. Cyclodextrins are promising agents; these cyclic oligosaccharides enhance the solubility of hydrophobic substances. Currently used in Niemann-Pick Disease Type C (NPC) therapy: A lysosomal storage disorder resulting from mutations in cholesterol transporter genes (NPC1, NPC2). Cholesterol accumulates within lysosomes. Hydroxypropyl-β-Cyclodextrin (HP-β-CD) is used in compassionate scenarios and clinical trials for NPC patients. It is promising, but concerns about ototoxicity persist. Expanding Horizons - Ongoing Research: Basic and clinical studies continue to explore HP-β-CD’s efficacy. -Superior CD Derivatives: Investigating other cyclodextrins for clinical application. - Broader Applicability: Considering CD therapies for various LSDs. Other LSDs: Methyl-β-cyclodextrin (MBCD), alpha-cyclodextrin (α-CD), gamma-cyclodextrin (γ-CD), and HPBCD (Kleptose) show potential in cell models in these diseases: Wolman disease, Farber disease, Tay-Sachs disease, Fabry disease, Niemann Pick Type A (NPA), Batten disease, and Mucopolysaccharidosis type IIIB (MPSIIIB). 🌟🔍🧪 #LysosomalStorageDiseases #Cyclodextrins #MedicalResearch

📚I'm thrilled to announce the publication of my first academic paper ,"[ Global prevalence of celiac disease in type 1 diabetes ]," in "[Alimentary Pharmacology & Therapeutics]" with an impressive impact factor of 6.6! 😀🎉 📎This article examines the relationship between celiac disease and type 1 diabetes. The results obtained from a large database with a high statistical population and the findings are classified based on different criteria. The obtained results show the high importance of examining type 1 diabetes patients for possible celiac disease. 🔎For a more comprehensive look, I invite you to check out the article here: https://lnkd.in/eFnRGv4v I'm deeply grateful to Sahand Karimzadhagh & Elahe Abbaspour for their guidance and mentorship throughout this process. 🙏 Certainly, doing this work could not be done without the cooperation and support of this strong team.🌟 This is just the beginning of my research journey, and I'm already hard at work on new projects with the goal of publishing more impactful papers.🚀 👏Thanks to our amazing team : Sahand Karimzadhagh , Elahe Abbaspour , maryam shahriarinamin , Selvana Poursadrolah , mehrdad khorasani , Mahzad Daghighi , Arash Malek & Jouan Taheri Talesh . #CeliacDisease #GlobalPrevalence #CoeliacDisease #Type1Diabetes #MetaAnalysis

Researchers develop new drug to tackle severe influenza. A newly developed drug aims to control lung inflammation during severe influenza, offering hope for improved patient outcomes. The drug, tested successfully in mice, targets specific cell death pathways to prevent excessive lung damage while allowing the immune system to combat the virus effectively. This breakthrough could lead to more effective treatments for severe flu cases, offering a promising step forward in influenza management. Read more: https://lnkd.in/e-qCR9rh #medical #drugdevelopment #research #immunesystem #biology

🦓 Needle in the Haystack – How We Can Improve Patient Finding for Rare Disease 🦓 🔶 40 years after the US Orphan Drug Act, around 90% of rare diseases still lack treatment, and diagnosis is often slow and cumbersome. 🔶 To improve the process of drug development in rare diseases and bring new treatments to patients, patient-finding strategies are key. 🔶 While one might think that the unmet need of a rare disease automatically drives demand for a new experimental or approved treatment, the reality is often quite different. 🔶 In a recent article in RARE Revolution Magazine, The Healthonauts' Louise von Stechow explored strategies to improve rare disease patient finding: 🦓 Assemble the Puzzle Pieces: Improved disease understanding through comprehensive genetic characterization, clear and holistic symptom descriptions, and patient journey mapping. 🦓 Uncover Hidden Patterns: Innovative methods such as advanced genetic profiling and artificial intelligence to identify rare disease variants and phenotypic matches (for example, based on facial features). 🦓 Learn from the Experts: Integrating patient and caregiver experiences and patient advocacy into patient-finding strategies. 🧡 Read the full article here: https://lnkd.in/e2f9Gkud #raredisease #orphandrugs #drugdevelopment

Taming the #Immune #System When #rarediseases Strike:- •Rare diseases suffer from a myriad of challenges, including misdiagnosis, no diagnosis, or lack of appropriate treatments. •A subset of such conditions includes 80–90 types of rare #autoimmune disease. •Companies that develop #therapeutics for rare autoimmune diseases are utilizing a number of strategies. •For example, drugs to treat sarcoidosis, (in which damaging granulomas form throughout the body) are being developed that target #tRNA #synthetase domains involved in both normal cellular responses as well as autoimmune conditions. ✓ Another strategy recycles an approved drug given Orphan Disease Designation to treat a rare #Bcell driven disease that causes #skin and #lung fibrosis. 1.#tRNA #synthetase #therapeutics:- •Amino-acyl tRNA synthetases are enzymes that catalyze the attachment of amino acids to their specific tRNA. •The resulting tRNAs are escorted into the ribosomal machinery where they enter into the protein synthesis pathway. •tRNA synthetases evolved to include novel domains that may more broadly play critical roles to cellular responses involved in disease states, in particular, cellular stress, and tissue homeostasis. 2.#Targeting #Bcells:-GSK has its sights on treatment of SSc-ILD. Their strategy, however, is targeted B-lymphocyte stimulator (#BlyS) inhibition using belimumab to patients affected by B cell-mediated immune conditions. •Their strategy, however, is #targeted #B- #Lymphocyte stimulator (BlyS) inhibition using belimumab to patients affected by B #cell-mediated immune conditions. The drug, a fully humanized #monoclonal antibody, #prohibits the prolonged survival of B cells induced by increased #BlyS and reduces the differentiation of B cells into #immunoglobulin-producing #plasma cells. •The #fda has already approved the #belimumab (Benlysta) for the treatment of active #systemic #lupus #erythematosus (SLE) and #lupus #nephritis. 3.#Melanocortin #analog for #vitiligo:- #Vitiligo is an autoimmune disorder resulting in loss of skin pigment. •The condition, affecting ~ 0.5 to 2% of the world’s population, occurs when #pigment-producing #melanocytes are destroyed. Loss of skin color often first appears on the hands and face then spreads to other body parts. •There is currently no clinically meaningful, safe systemic treatment option.However, a systemic disease needs a systemic solution. We are focusing on the therapeutic potential of #melanocortins, a group of #small #peptide hormones derived from the cleavage of the larger #proopiomelanocortin (POMC) protein.” •In particular, the company has developed a 13 amino acid #analog of #alpha-melanocyte #stimulating hormone (#alpha-MSH), a naturally occurring peptide that stimulates #melanogenesis. The compound, #SCENESSE® (#afamelanotide), plays a role in regulating (that is, stimulating) #pigmentation similar to #alpha-MSH. #autoimmunedisease #tcells #proteins #immunology

📃Scientific paper: Factors affecting responsiveness of vadadustat in patients with anemia associated with chronic kidney disease: a post-hoc subgroup analysis of Japanese phase 3 randomized studies Ref.: Springer, 2024 Abstract: Background Vadadustat is an oral hypoxia-inducible factor prolyl hydroxylase inhibitor developed for treating anemia in chronic kidney disease (CKD). The purpose of this post-hoc analysis was to investigate the factors affecting the responsiveness to vadadustat in anemia patients with nondialysis-dependent (NDD) or hemodialysis-dependent (HDD) CKD in two Japanese phase 3 studies. Methods Of 151 and 162 patients enrolled in NDD-CKD and HDD-CKD studies, 136 and 140 patients, respectively, were included and divided into subgroups for the analysis. To assess vadadustat responsiveness, the resistance index was defined as the mean body weight-adjusted dose of vadadustat (mg/kg) at weeks 20–24 divided by the mean hemoglobin (g/dL) at weeks 20–24. Multivariate analysis was performed to identify the variables affecting the resistance index. Results Independent factors identified as determinants for better response to vadadustat were as follows: high baseline hemoglobin, low baseline eGFR, high week-20–24 ferritin, and CKD not caused by autoimmune disease/glomerulonephritis/vasculitis in NDD-CKD; and male sex, high baseline C-reactive protein, and low baseline erythropoiesis-stimulating agent resistance index (ERI) in HDD-CKD. Conclusions In this post-hoc analysis, several factors were identified as affecting the response to vadadustat. These results may provide useful information leading to an appropriate dose modification for vadadustat. Clinical trial registration NCT03329... Continued on ES/IODE ➡️ https://etcse.fr/1lZ ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.

Source: Diagnostics (Basel, Switzerland) This study examined the occurrence and relevance of Gram-positive rod-shaped bacteria in urine samples of patients with suspected urinary tract infections. The most abundant bacteria found were Corynebacterium spp., Actinomyces/Winkia, and Actinotignum/Actinobaculum. The accuracy of diagnostic assays for differentiating these bacteria was low. Prolonged incubation and mid-stream urine sampling increased the detection rate. Confirmatory testing with invasive urine sampling and DNA sequencing methods should be considered for accurate identification and therapeutic strategy.

A TNIP1-driven systemic autoimmune disorder with elevated IgG4 An international team of scientists have identified a rare, mutated version of a protein called TNIP1 that causes a chronic autoimmune disease similar to Sjogren’s Syndrome – a condition that leads to extreme dryness of the eyes and mouth that can cause blindness if left untreated. According to the researchers, the TNIP1 mutation may also be responsible for more severe autoimmune diseases including lupus, a debilitating condition that causes inflammation in organs and joints, skin rashes and fatigue. In extreme cases, the disease can be fatal. The scientists say they were able to successfully reverse the damaging effects of the mutation in mice, bringing them a step closer to developing new drug therapies that do the same in humans. “Proteins are critical to our growth, development and overall health, but they have a shelf life. Once the proteins have served their purpose, they become deactivated,” said the lead author. “That’s where TNIP1 comes in. It works in unison with the cell’s waste management system. TNIP1 essentially acts as a gatekeeper of the immune system by removing obsolete proteins and taking them to the cell’s degradation sites where they are broken down, recycled and repurposed. Using gene-editing technology, the researchers introduced the human equivalent TNIP1 mutation into mice. They found that mice carrying the mutation developed a condition that mimicked the Sjogren’s disease-like symptoms seen in one of the human patients. “The TNIP1 mutant protein is similar to the lupus-causing TLR7 mutation in that it affects the same biochemical pathway. There is work already underway by pharmaceutical companies to develop new drugs and tweak existing ones that inhibit the TLR7 pathway,” said a co-author. According to the lead author, although both patients with the TNIP1 mutation had slightly different forms of autoimmune disease, they both had abnormally high levels of IgG4 antibodies in their blood. “The abnormally high presence of IgG4 in both patients is interesting because clinicians might be able to use IgG4 as a biomarker of TNIP1-driven autoimmune disease,” the lead said. #ScienceMission #sciencenewshighlights https://lnkd.in/ghM6Sesz

🧬 Groundbreaking Discovery in Bowel Disease: Scientists Identify Key Driver and Pioneer Drug Adaptation for Treatment🧬 Researchers have made a significant breakthrough in understanding the drivers of Inflammatory Bowel Disease (IBD) and other related disorders. Their work is now focused on adapting existing drugs to effectively treat patients, marking a potential 'holy grail' in the fight against these debilitating conditions. Increasing rates of autoimmune and inflammatory diseases present a burgeoning threat to human health, compounded by limited efficacy of available treatments and high failure rates during drug development. To address this urgent need for a better understanding of disease mechanisms, recent research explores the potential of functional genomics. 🔬 This study investigates an intergenic haplotype on chr21q22, linked to multiple inflammatory diseases such as inflammatory bowel disease, ankylosing spondylitis, primary sclerosing cholangitis, and Takayasu’s arteritis. The researchers identify ETS2 as a central regulator of human inflammatory macrophages, delineating the shared mechanism amplifying ETS2 expression. 🧩 Genes regulated by ETS2 are prominently expressed in diseased tissues, with a strong enrichment for inflammatory bowel disease GWAS hits. Overexpressing ETS2 in resting macrophages replicates the inflammatory state observed in chr21q22-associated diseases, upregulating multiple drug targets, including TNF and IL-23. 💡 Using a database of cellular signatures, the researchers identified and validated the potent anti-inflammatory activity of one class of small molecules in vitro and ex vivo. ✨ This work showcases the power of functional genomics in identifying immune-mediated disease mechanisms and potential therapeutic opportunities, paving the way for more effective treatments for inflammatory diseases. From Nature: https://lnkd.in/gtm6VKAH #FunctionalGenomics #InflammatoryDiseases #DrugDevelopment #BiomedicalResearch #Genomics #AutoimmuneDisease #Inflammation #PrecisionMedicine

Insights into the Global #Hemophilia #Market: Trends, Treatments, and Future Outlook Get To More: https://lnkd.in/ghVDWtVJ Overview of the Global Hemophilia Market The global hemophilia market encompasses #treatments and #therapies aimed at managing hemophilia, a rare genetic bleeding #disorder. Hemophilia is #characterized by #deficiencies in clotting factors, primarily factor VIII (hemophilia A) or factor IX (hemophilia B). The market includes clotting factor #concentrates, #recombinant products, and emerging gene therapies #designed to mitigate bleeding episodes and improve patients' quality of life. Market Dynamics and Treatment Landscape The hemophilia market is driven by advancements in #treatment options and increasing access to #healthcare in developing regions. Factor #replacement therapies, such as recombinant clotting factors and extended half-life products, dominate the market. Novel therapies like gene editing and gene therapy hold promise for #potentially curing hemophilia by correcting the genetic mutations responsible for clotting factor deficiencies. Future Outlook and Challenges Looking ahead, the hemophilia market is poised for significant #growth with ongoing research in gene #therapy and personalized medicine. Challenges include the high cost of treatment, especially in developing countries, and the need for #accessible and #affordable therapies globally. Despite these challenges, #innovations in treatment modalities and a focus on improving patient outcomes drive #optimism for the future of hemophilia management. Key players in the global Hemophilia Market: • Bayer AG • Biogen Marin Pharmaceutical, Inc. • CSL Behring • Kedrion Biopharma • Novo Nordisk • Pfizer, Inc. #Hemophilia #BleedingDisorders #ClottingFactors #FactorVIII #FactorIX #RecombinantTherapy #GeneTherapy #RareDiseases #HealthcareAccess #PersonalizedMedicine #MedicalInnovations #TreatmentCosts #PatientOutcomes #GlobalHealth #ClinicalTrials