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A recent study conducted at a tertiary care hospital in Haryana, India, aimed to screen for Fabry disease in patients undergoing dialysis. The researchers used a convenient and effective screening tool called dried blood spots (DBS) on filter paper using the fluorescence method. Out of the 112 patients screened, one female patient was found to have Fabry disease. The study concluded that Fabry disease is underdiagnosed, especially in high-risk populations like those undergoing dialysis, and recommended the augmentation of facilities for similar screening studies in the dialysis population. [Extracted from the article]

A recent study conducted by researchers at the University of Catania in Italy explored the relationship between capillaroscopic architectural patterns and different variant subgroups in Fabry disease. Fabry disease is a genetic lysosomal storage disorder that affects both macrovascular and microvascular function. The study used nailfold capillaroscopy, a non-invasive diagnostic tool, to evaluate microcirculatory disorders in Fabry disease patients. The findings showed significant differences in capillaroscopy findings among patients with different gene variant subgroups, highlighting the potential of nailfold capillaroscopy as a valuable tool for the early diagnosis and monitoring of Fabry disease. [Extracted from the article]

A recent study conducted by researchers at the University of Naples Federico II in Italy focuses on Fabry disease, a rare hereditary and genetic disease caused by a mutation in the a-galactosidase A enzyme. The study aimed to develop an analytical strategy for identifying and quantifying the biomarkers of Fabry disease, globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3), in serum and blood samples. The researchers successfully developed a reliable and effective method using liquid chromatography coupled with mass spectrometry, which could potentially improve clinical diagnostics for lysosomal storage disorders. [Extracted from the article]

A recent study conducted at Wroclaw Medical University in Poland focused on Fabry disease, a genetic disorder that affects lipid metabolism and can lead to cardiovascular complications. The researchers aimed to determine the most reliable and reproducible technique for quantifying late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR) in patients with Fabry disease. They compared different quantification methods and found that visual assessment with threshold (VAT) and using 5 standard deviations (SD) were the most reliable and reproducible techniques, while the full width at half maximum method (FWHM) was the least reliable. The study highlights the importance of choosing the appropriate quantification technique when assessing LGE in patients with Fabry disease. [Extracted from the article]

A study conducted at Peking University First Hospital in Beijing, China, explored the expression of inflammatory cytokines (ICs) in Fabry disease (FD) and the impact of enzyme replacement therapy (ERT) on IC expression. The study found that ICs were upregulated in FD patients, indicating the role of the innate immune process in FD etiology. ERT was found to ameliorate FD-related inflammatory activation to some extent. The findings suggest that targeting the inflammatory pathway may be a promising therapeutic approach for FD. [Extracted from the article]

A recent study conducted at the University Hospital of Nephrology focused on Fabry disease, a rare X-linked lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-Gal A) enzyme. The study presented the first diagnosed case of Fabry disease in North Macedonia, which was identified based on clinical manifestations and confirmed through enzyme, biomarker, and genetic tests. The research emphasized the importance of raising awareness about this rare disease for timely diagnosis and treatment. The study provides valuable insights into the phenotype associated with a specific GLA variant and highlights the need for continuous medical education on Fabry disease. [Extracted from the article]

The article discusses research by the University of Catania, reported in the International Journal of Molecular Sciences issue on August 19, 2024. Topics include the role of inflammation, oxidative stress, and endothelial dysfunction in Fabry disease, novel cardiovascular risk factors and diagnostic tools, and the potential for innovative therapeutic strategies to improve patient outcomes.

A recent study conducted by researchers at Normandie University in France focused on Fabry disease, an X-linked lysosomal disease caused by a deficiency of the enzyme alpha-galactosidase A. The study used a human podocyte cell line to analyze gene expression and gain insights into the underlying mechanisms of podocyte dysfunction in Fabry disease. The researchers identified 247 genes with altered expression levels in the Fabry disease podocytes compared to control podocytes, and functional analysis revealed their involvement in various pathways related to oxidative stress, inflammation, fatty acid metabolism, collagen and extracellular matrix homeostasis, kidney injury, apoptosis, autophagy, and cellular stress response. The study provides a comprehensive approach to understanding Fabry disease and may contribute to the identification of new biomarkers and therapeutic targets for this rare lysosomal disorder. [Extracted from the article]

A recent study analyzed data from the Canadian Fabry Disease Initiative (CFDI) to examine stroke rates, risk factors, and aspirin prescribing trends in patients with Fabry disease (FD). FD is an X-linked disorder that can lead to cardiovascular disease (CVD) and premature mortality. The study found that stroke rates were higher in male patients and those with severe GLA variants compared to females and those with attenuated variants. Additionally, the use of aspirin for primary prevention has declined. The study highlights the need for further research and guidance on the use of aspirin in FD patients. [Extracted from the article]

A recent study published in the Clinical Kidney Journal examined the effects of agalsidase beta treatment on patients with Fabry disease. Fabry disease is a genetic disorder that leads to the accumulation of glycosphingolipids, causing kidney, heart, and nervous system dysfunction. The study found that agalsidase beta treatment was associated with a reduction in the decline of kidney function and a lower risk of severe clinical events. Additionally, the treatment led to a normalization of plasma globotriaosylceramide levels in pediatric patients. These findings suggest that agalsidase beta treatment can preserve kidney function and delay disease progression in Fabry disease patients. [Extracted from the article]

A study conducted at Hospital Britanico Buenos Aires in Argentina has provided new insights into left ventricular hypertrophy (LVH) in Fabry disease. Fabry disease is an X-linked lysosomal storage disorder that affects glycosphingolipid metabolism and often leads to cardiac involvement, specifically LVH. The study found that early initiation of enzyme replacement therapy (ERT) with agalsidase alfa can result in better cardiac outcomes, including stabilization of left ventricular mass index (LVMI). The research concluded that cardiac morphometric stability is a positive outcome of ERT. This study is one of the first of its kind in Argentina and aligns with previous literature on comparable Fabry disease populations. [Extracted from the article]

A preprint abstract from biorxiv.org discusses the early detection of irreversible cellular damage in cardiac biopsies of Fabry disease patients before the formation of inclusion bodies. The study found that early-stage accumulation of globotriaosylceramide (Gb3) in cardiomyocytes can cause significant stress and irreversible damage. Inflammatory and oxidative stress markers were detected in fibroblasts and cardiomyocytes from Fabry disease patients, indicating cellular stress and damage even before the onset of typical pathological changes. The researchers suggest that treatment should be initiated earlier to prevent irreversible damage and improve the prognosis of Fabry disease patients. [Extracted from the article]

A new study on Fabry disease, a rare lysosomal storage disorder, has been conducted by researchers at General University Hospital in Prague, Czech Republic. The study focuses on a unique case of a homozygous female patient who was identified through a nationwide screening program for hypertrophic cardiomyopathy patients. The patient was found to have a specific variant of the disease that primarily affects the heart and has a late onset. The researchers highlight the importance of systematic screening for Fabry disease in patients with clinical evidence of hypertrophic cardiomyopathy, particularly for variants with late-onset cardiac manifestations. The study also mentions the availability of oral therapy with migalastat for many late-onset variants of Fabry disease. [Extracted from the article]

A recent study conducted by researchers at University College London (UCL) explores the role of inflammation in Fabry disease, a multisystem X-linked disorder caused by mutations in the alpha-galactosidase gene. The study emphasizes the importance of understanding the stages of inflammation in order to improve diagnosis and interventions before the progression to fibrosis, where treatment options are less effective. The research also highlights the complex interplay between inflammatory processes and current treatments, such as the challenges posed by anti-drug antibodies. This improved understanding of inflammation in Fabry disease will guide the development of more effective diagnostic and therapeutic approaches, ultimately improving patient care. [Extracted from the article]

A recent study on Fabry disease, conducted by researchers at the Faculty of Medicine in Okayama, Japan, has found that the use of migalastat is highly recommended for patients with the R112H mutation. Fabry disease is an X-linked disorder that results in a deficiency of a-galactosidase A (GLA) activity. The study focused on a 42-year-old male patient with late-onset Fabry disease and the R112H mutation, who exhibited only renal involvement and was successfully treated with galactosidase beta and migalastat for approximately 10 years. Migalastat was found to be clinically effective in normalizing plasma lyso-Gb3 levels and inhibiting the progression of renal damage associated with Fabry disease. [Extracted from the article]

A recent report from the Indira Gandhi Institute of Medical Science in Bihar, India discusses the presence of zebra bodies in the kidneys of patients with Rheumatoid Arthritis and hydroxychloroquine-induced phospholipidosis. Zebra bodies are typically associated with Fabry disease, but this research suggests that they can also be found in other conditions. The study emphasizes the importance of considering Rheumatoid Arthritis as a potential diagnosis when zebra bodies are present, especially if there is no family or drug history. The full article can be accessed for free through the Indian Journal of Nephrology. [Extracted from the article]

A recent report discusses research on Fabry disease, a lysosomal storage disorder caused by a deficiency in the enzyme a-galactosidase A. The study describes an electrochemical method using ion-sensitive field effect transistors (ISFETs) to detect the activity of a-galactosidase A in dried blood spot extracts. The researchers optimized the buffer composition and used ISFET structures as sensor elements for label-free detection. The packaged sensors were able to distinguish between normal and inhibited enzyme activity, offering a promising solution for widespread newborn screening of Fabry disease. The research was conducted by the Institute of Nanotechnology in Moscow, Russia. [Extracted from the article]

A recent report discusses research findings on Fabry disease, a multisystemic disorder that affects lipid catabolism. The study aimed to assess cytokines and cardiovascular risk-related proteins in the plasma of Fabry disease patients, both treated and untreated, to evaluate their reliability as markers for disease stage and treatment effects. The researchers identified inflammatory and endothelial dysfunction markers that are increased in the plasma of Fabry disease patients. Although these proteins are not specific to Fabry disease, they can provide a reference signature with prognostic value for early diagnosis, disease progression, and treatment efficacy. [Extracted from the article]

A report from York University in Toronto, Canada discusses the use of risk-sharing agreements (RSAs) and managed access agreements for pharmaceuticals in the context of Fabry Disease. The article highlights the importance of partnerships, collaborations, and patient communities in establishing RSAs, as well as the role of robust registries for collecting real-world data. The research concludes that there is a need for technological and governance platforms to effectively support RSAs in Canada. This study provides policy lessons for the future of RSAs and pharmaceutical innovation. [Extracted from the article]

A recent study conducted at the University Hospital in Lausanne, Switzerland, examined the effects of enzyme replacement therapy (ERT) on left ventricular hypertrophy (LVH) in patients with Anderson-Fabry disease (AFD). The study found that while ERT may slow or halt disease progression in AFD patients, LVH can still progress despite long-term ERT. The study followed 60 patients for over 10 years and found that 36% of patients experienced LVH progression, with older men being more likely to experience adverse events. The researchers concluded that LVH at the start of treatment was a strong predictor of LVH progression and adverse events. [Extracted from the article]

A study conducted by researchers at the University of Campania 'Luigi Vanvitelli' in Naples, Italy, aimed to determine the incidence and predictors of left ventricular hypertrophy (LVH) development in patients with Fabry disease (FD) who had no LVH at baseline evaluation. The study followed a cohort of 214 patients with FD over a median follow-up of 9.4 years and found that 24.6% of patients developed LVH. Age, male sex, and abnormal electrocardiogram (ECG) were identified as independent predictors for LVH development. These findings contribute to a better understanding of LVH in patients with FD. [Extracted from the article]

A study conducted in Berlin, Germany, has provided new data on Fabry disease, a genetic disorder that affects lipid metabolism. The study focused on the diagnostic value of left ventricular layer strain and specific regional strain patterns in cardiac amyloidosis and Fabry disease. The researchers found that layer-specific left ventricular strain alterations were more pronounced in cardiac amyloidosis patients compared to Fabry disease patients. The combination of radial strain parameters and established strain patterns improved the diagnostic accuracy in the echocardiographic assessment of suspected storage diseases. [Extracted from the article]

A recent study conducted at University Hospital Wurzburg in Germany has explored the use of MRI imaging biomarkers to understand the relationship between pain and Fabry disease. Fabry disease is a rare genetic disorder that causes neuropathic pain due to the accumulation of a specific lipid in the dorsal root ganglia. The study found that patients with Fabry pain had increased T2 signal in the dorsal root ganglia compared to healthy controls and patients without pain. This effect was observed across different genotypes and was found to be an independent predictor of Fabry pain. The study suggests that MRI imaging biomarkers could help improve our understanding of the pathology of Fabry pain. [Extracted from the article]

Fabry disease, also known as Anderson-Fabry disease, is a hereditary disorder that affects the metabolism of glycosphingolipids due to a deficiency of the lysosomal alpha-galactosidase A enzyme. This leads to the progressive accumulation of glycosphingolipids in tissues and organs, causing various symptoms and complications such as renal, cardiac, and neurological dysfunction. Fatigue and exercise intolerance are common early symptoms in Fabry disease patients, but the specific causes are still not fully understood. A recent review from the University of Naples Federico II explores the role of cardiac and pulmonary dysfunctions in contributing to fatigue and exercise intolerance in Fabry disease patients. [Extracted from the article]

A recent study conducted by researchers at Hospital Universitario Son Llatzer in Palma de Mallorca, Spain, focused on the p.Arg301Gln variant in the a-galactosidase A gene (GLA) and its association with Anderson-Fabry Disease (AFD). The study analyzed an international cohort of patients carrying this genetic variant and found that the penetrance of the disease was 63% in the entire cohort, with a higher penetrance in men. Men also presented symptoms earlier and had a higher incidence of cardiovascular and renal events. The study concluded that this genotype-phenotype correlation could be useful for clinical decision-making. [Extracted from the article]

A recent study conducted by researchers at the Medical University of Vienna examined the pregnancy outcomes of women with Fabry disease in Austria. The study found that 86.4% of the women experienced signs and symptoms of Fabry disease during pregnancy, with an increase in pain burden. Out of the 70 pregnancies reported, 61 resulted in live births, while there were six miscarriages and three induced abortions. Risk factors for poor maternal and fetal outcomes included hypertension, proteinuria, and smoking. The study concluded that women with Fabry disease have an increased risk of preeclampsia, prematurity, and neonates small for gestational age, and that this information can be valuable for pregnancy counseling. [Extracted from the article]

The article discusses a newly launched clinical trial in Taiwan called the Taiwan Registry of Hypertrophic Cardiomyopathy (THIC) Research Synopsis. The trial aims to evaluate the clinical, genetic, and biochemical features, prevalence, and natural course of hypertrophic cardiomyopathy (HCM) and related rare diseases such as Fabry disease in Taiwan. HCM is characterized by left ventricular hypertrophy and can present various symptoms including arrhythmia and heart failure. The trial will also explore the specific signs of Fabry disease in Taiwan. The trial is currently recruiting participants and is expected to be completed by December 2027. [Extracted from the article]

Chiesi Global Rare Diseases has published the results of a survey on Fabry disease in the Orphanet Journal of Rare Diseases. The survey, which included 280 adult patients in the U.S. and Canada, aimed to assess disease monitoring, understand the patient's perception of disease burden, and evaluate the impact of therapy on quality of life. The survey found that common symptoms of Fabry disease included low energy, tingling or pain in the hands or feet, hearing loss, body pains, and abdominal pain. The results highlight the need for improved care and management of Fabry disease. [Extracted from the article]

Fabry Disease (FD) is a lysosomal storage disorder caused by mutations in the GLA gene on the X chromosome. This genetic mutation leads to the buildup of glo-botriaosylceramide (Gb-3) within lysosomes, impairing cellular functions. Research suggests that Gb-3 accumulation triggers an acute inflammatory process in FD, which may develop into a chronic state. Additionally, extracellular vesicles (EVs) have been identified as potential inflammatory intermediaries capable of transporting cytokines and other immunomodulatory molecules. This review explores the association between FD and altered immune responses, as well as the potential role of EVs in inflammation. [Extracted from the article]

A recent study conducted by researchers at the University of Naples Federico II in Italy explores non-pharmacological therapeutic strategies for Fabry disease (FD), a genetic disorder caused by mutations in the GLA gene. The study emphasizes the potential benefits of dietary interventions, such as a low-FODMAP diet, in managing gastrointestinal complications associated with FD. Additionally, the researchers suggest that healthy dietary patterns and regular physical activity may improve the quality of life for FD patients, particularly in relation to cardiovascular, renal, and neurological aspects. The study provides valuable insights into the role of nutrition and physical activity in FD patients and encourages further exploration of these non-pharmacological approaches. [Extracted from the article]

Researchers at the IRCCS Istituto delle Scienze Neurologiche di Bologna have published a report on Fabry disease, a multisystemic disorder characterized by the deposition of globotriaosylceramide (Gb3) in multiple organs. The report describes the cases of a father and daughter with a W162C mutation, with the father presenting with late-onset cardiac Fabry disease and the daughter being asymptomatic but showing initial myocyte Gb3 deposits. The study highlights the importance of early diagnosis and the potential benefits of organ biopsy in assessing organ involvement. The report also discusses the challenges in managing asymptomatic female carriers. [Extracted from the article]

A study published in Gene Therapy Weekly explores the potential of miRNA signatures as biomarkers for Fabry disease, a lysosomal storage disorder. The study compared automated and manual sample isolations and found that different isolation methods yielded varying detection ranges and highly differential miRNAs. However, both methods consistently showed significant associations with angiogenesis pathways, suggesting their importance in disease progression. The findings provide valuable insights for further research and the development of non-invasive biomarkers for early diagnosis and treatment monitoring of Fabry disease. [Extracted from the article]

A recent study conducted at Istanbul University-Cerrahpasa has found that patients with Fabry disease exhibit elevated levels of inflammation and immune activation. The study investigated the levels of pteridine and kynurenine metabolites in 33 patients with Fabry disease and compared them to a control group. The results showed that the patients had higher levels of neopterin and biopterin, as well as a higher tryptophan/kynurenine ratio. The study suggests that these inflammation and immune activation markers could be used as early disease biomarkers. [Extracted from the article]

A study conducted at Taipei City Hospital examined the prevalence of peripheral vestibular disorder (PVD) among patients with Fabry disease compared to the general population. The study found that patients with Fabry disease had a higher prevalence of PVD, as well as other vestibular disorders such as Meniere's disease and benign paroxysmal positional vertigo. The odds ratios for PVD, Meniere's disease, benign paroxysmal positional vertigo, and other peripheral vestibular dizziness were all significantly higher in the Fabry disease group compared to the comparison group. This research provides valuable insights into the association between Fabry disease and vestibular disorders. [Extracted from the article]

A recent report from Shanxi University provides new insights into Fabry disease, an X-linked recessive inheritance lysosomal storage disorder caused by mutations in the GLA gene. The study identified four GLA mutations that lead to a deficiency of the enzyme alpha-galactosidase A (a-Gal A), resulting in reduced enzyme activity. These mutations also affected the internal dynamics and structures of GLA, leading to the accumulation of autophagosomes and impairment of autophagy in cells. Additionally, the overexpression of these GLA mutants promoted the expression of lysosome-associated membrane protein 2 (LAMP2), resulting in an increased number of lysosomes. This research contributes to a better understanding of the pathogenesis of Fabry disease and may aid in accurate diagnosis and precise medical intervention. [Extracted from the article]

A recent study conducted by researchers at the Institute for Cancer Research and Treatment (IRCCS) in Rome, Italy, has investigated the role of hypoxia and inflammation in determining testicular damage in Fabry disease. Fabry disease is a rare genetic disorder characterized by the accumulation of globotriaosylceramide (GB3) in various tissues. The researchers found that GB accumulation in blood vessel cells may lead to reduced oxygen and nutrients, which can damage the seminiferous tubular epithelium and Sertoli's cells, resulting in infertility. This study provides valuable insights into the mechanisms underlying infertility in Fabry disease. [Extracted from the article]

A study conducted by researchers at Konyang University in Daejeon, South Korea, has investigated the potential benefits of phospholipid-polyethylene glycol-capped Ceria-Zirconia antioxidant nanoparticles (PEG-CZNPs) in the treatment of Fabry disease (FD). FD is an X-linked hereditary disorder that causes the accumulation of globotriaosylceramide (GB3) in cells, leading to organ damage. The study found that PEG-CZNPs enhanced autophagy flux and reduced fibrous markers in cellular and animal models of FD. These findings suggest that PEG-CZNPs could be a potential therapeutic option for FD. [Extracted from the article]

A recent study conducted at the University of Wurzburg in Germany has provided new insights into Fabry Disease, a life-limiting disorder characterized by the accumulation of globotriaosylceramide (Gb3) in cells. The study focused on a patient with a variant of unknown significance (VUS) in the GLA gene, which is responsible for alpha-galactosidase A (alpha-GAL A) deficiency. The researchers used various cell types derived from the patient to investigate the effects of the VUS, finding that it had no pathogenic role in Fabry Disease. These findings have important implications for the clinical management of similar cases. [Extracted from the article]

A recent study from Johns Hopkins University provides new insights into Fabry Disease, a genetic disorder that affects lipid metabolism and can lead to chronic kidney disease. The study highlights the importance of kidney transplant as the optimal treatment for Fabry Disease patients with end-stage kidney disease. However, it also emphasizes the need for enzyme replacement therapy and other treatments to mitigate damage to other organs, such as cardiomyopathy, after transplantation. The research reviews the outcomes and management of kidney transplant recipients with Fabry Disease, as well as progress in screening studies. [Extracted from the article]

A recent study conducted by researchers from the Department of Cardiology focused on Fabry disease, an X-linked lysosomal storage disorder that can lead to organ failure. The study examined the expression of angiogenic factors, VEGFa and angiostatin, in aortic tissue of mice with Fabry disease and measured their levels in the serum of patients with the disease. The results showed an overexpression of VEGFa and a decrease in angiostatin in the aortic tissue of mice with Fabry disease, suggesting endothelial dysfunction. Additionally, elevated levels of VEGFa were found in the serum of patients with Fabry disease and were associated with markers of organ manifestation. These findings indicate that VEGFa may serve as a potential biomarker for detecting endothelial dysfunction in Fabry disease. [Extracted from the article]

mAbxience, a biopharmaceutical company, has signed an agreement with Biosidus, a biotechnology company, for the manufacture of Agalsidase Beta, a treatment for Fabry disease. Fabry disease is a rare genetic disorder caused by a deficiency of the enzyme a-galactosidase A, resulting in the accumulation of glycosphingolipids in the body. This agreement is significant for both companies and represents a strategic advancement in their respective areas of expertise. It also marks the development of the first biosimilar molecule for the treatment of a rare disease in Latin America and emerging markets. The collaboration aims to improve access to essential treatments for patients with Fabry disease in Argentina and other countries. [Extracted from the article]

A recent study conducted by researchers at the University of Campania 'Luigi Vanvitelli' in Naples, Italy, aimed to investigate the prevalence of Fabry disease (FD) in high-risk populations and newborns. The study analyzed 110 observational studies and found that the prevalence of FD varied depending on the clinical setting and criteria used for pathogenicity assessment. The study emphasized the need for periodic reassessment of GLA variants in light of recent clinical, biochemical, and histological data. This research provides valuable insights into the prevalence of FD and highlights the importance of accurate diagnosis and management of the disease. [Extracted from the article]