scholarly journals The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

2010 ◽  
Vol 18 (1) ◽  
pp. 23-33 ◽  
Author(s):  
Richie Khanna ◽  
Rebecca Soska ◽  
Yi Lun ◽  
Jessie Feng ◽  
Michelle Frascella ◽  
...  
Keyword(s):  
Mouse Model ◽  
Fabry Disease ◽  
Pharmacological Chaperone

Treatment of Anderson-Fabry Disease

2020 ◽  
Vol 26 (40) ◽  
pp. 5089-5099 ◽  
Author(s):  
Irene Simonetta ◽  
Antonino Tuttolomondo ◽  
Mario Daidone ◽  
Salvatore Miceli ◽  
Antonio Pinto
Keyword(s):  
Fabry Disease ◽  
Treatment Strategies ◽  
Signs And Symptoms ◽  
Current Treatment ◽  
Viral Gene ◽  
Pharmacological Chaperone ◽  
Enzyme Replacement ◽  
Cell Based Therapy ◽  
Organ Manifestations ◽  
Alpha Galactosidase

: Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations lead to a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). In the presence of high clinical suspicion, a careful physical examination and specific laboratory tests are required. Finally, the diagnosis of Fabry’s disease is confirmed by the demonstration of the absence of or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females. Measurement of the biomarkers Gb3 and Lyso Gb3 in biological specimens may facilitate diagnosis. The current treatment of Anderson-Fabry disease is represented by enzyme replacement therapy (ERT) and oral pharmacological chaperone. Future treatments are based on new strategic approaches such as stem cell-based therapy, pharmacological approaches chaperones, mRNA therapy, and viral gene therapy. : This review outlines the current therapeutic approaches and emerging treatment strategies for Anderson-Fabry disease.

scholarly journals Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond

2021 ◽  
Vol 18 (16) ◽  
pp. 8242
Author(s):  
Michał Nowicki ◽  
Stanisława Bazan-Socha ◽  
Mariusz Kłopotowski ◽  
Beata Błażejewska-Hyżorek ◽  
Mariusz Kusztal ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Genetic Diseases ◽  
Healthcare Providers ◽  
Treatment Programs ◽  
Current Therapy ◽  
Term Care ◽  
Pharmacological Chaperone ◽  
Enzyme Replacement ◽  
Home Based ◽  
Rare Genetic Diseases

Current therapy for Anderson–Fabry disease in Poland includes hospital or clinic-based intravenous enzyme replacement therapy with recombinant agalsidase alpha or beta, or oral pharmacological chaperone therapy with migalastat. Some countries around the world offer such treatment to patients in the comfort of their own homes. The 2020–2021 COVID-19 pandemic has pushed global healthcare providers to evolve their services so as to minimize the risk of COVID-19 exposure to both patients and providers; this has led to advances in telemedicine services and the increasing availability of at-home treatment for various procedures including parenteral drug administration. A total of 80% of surveyed Anderson–Fabry disease patients in Poland would prefer home-based treatment, which would be a safe and convenient alternative to clinic-based treatment if patient selection is based on our proposed algorithm. Our recommendations for home-based treatments appear feasible for the long term care of Anderson–Fabry disease patients during the COVID-19 pandemic and beyond. This may also serve as a basis for home-based treatment programs in other rare and ultra-rare genetic diseases.

scholarly journals Substrate Reduction Augments the Efficacy of Enzyme Therapy in a Mouse Model of Fabry Disease

PLoS ONE ◽  
2010 ◽  
Vol 5 (11) ◽  
pp. e15033 ◽  
Author(s):  
John Marshall ◽  
Karen M. Ashe ◽  
Dinesh Bangari ◽  
KerryAnne McEachern ◽  
Wei-Lien Chuang ◽  
...  
Keyword(s):  
Mouse Model ◽  
Fabry Disease ◽  
Enzyme Therapy ◽  
Substrate Reduction

scholarly journals Increased globotriaosylceramide levels in a transgenic mouse expressing human  1,4-galactosyltransferase and a mouse model for treating Fabry disease

2010 ◽  
Vol 149 (2) ◽  
pp. 161-170 ◽  
Author(s):  
C. Shiozuka ◽  
A. Taguchi ◽  
J. Matsuda ◽  
Y. Noguchi ◽  
T. Kunieda ◽  
...  
Keyword(s):  
Mouse Model ◽  
Fabry Disease ◽  
Transgenic Mouse

Development of a new pharmacological chaperone therapeutic strategy for Fabry disease

2020 ◽  
Vol 129 (2) ◽  
pp. S40
Author(s):  
Yun-Ru Chen ◽  
Ya-Chi Chen ◽  
Yu-Ping Hsieh ◽  
Sheng-Kai Chang ◽  
Ya-Ting Lee ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Therapeutic Strategy ◽  
Pharmacological Chaperone

scholarly journals Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data

2020 ◽  
Vol 28 (12) ◽  
pp. 1662-1668 ◽  
Author(s):  
Eleonora Riccio ◽  
◽  
Mario Zanfardino ◽  
Lucia Ferreri ◽  
Ciro Santoro ◽  
...  
Keyword(s):  
Adverse Effects ◽  
Enzyme Replacement Therapy ◽  
Fabry Disease ◽  
Replacement Therapy ◽  
Treatment Options ◽  
Real Life ◽  
Left Ventricular ◽  
Pharmacological Chaperone ◽  
Enzyme Replacement ◽  
Neurologic Function

AbstractThe treatment options for Fabry disease (FD) are enzyme replacement therapy (ERT) with agalsidase alfa or beta, and the oral pharmacological chaperone migalastat. Since few data are available on the effects of switching from ERT to migalastat, we performed a single-center observational study on seven male Fabry patients (18–66 years) to assess the effects of the switch on renal, cardiac, and neurologic function, health status, pain, lyso-Gb3, α-Gal A activity and adverse effects. Data were retrospectively collected at time of diagnosis of FD (baseline, T0), and after 12 months of ERT (T1), and prospectively after 1 year of therapy with migalastat (T2). No patient died or reported renal, cardiac, or cerebrovascular events during the study period. The predefined measures for cardiac, renal and neurologic function, and FD-related symptoms and questionnaires were stable between baseline and the switch, and remained unchanged with migalastat. However, a significant improvement was observed in left ventricular mass index from baseline to T2 (p = 0.016), with a significative difference between the treatments (p = 0.028), and in median proteinuria from T2 vs T1 (p = 0.048). Moreover, scores of the BPI improved from baseline to T1, and remained stable with migalastat. Plasma lyso-Gb3 levels significantly decreased from baseline to T1 (P = 0.007) and T2 (P = 0.003), while did not significantly differ between the two treatments. α-Gal A activity increased from T0 to T2 (p < 0.0001). The frequency of adverse effects under migalastat and ERT was comparable (28% for both drugs). In conclusion, switching from ERT to migalastat is valid, safe and well tolerated.

scholarly journals α-Galactosidase Aggregation Is a Determinant of Pharmacological Chaperone Efficacy on Fabry Disease Mutants

2012 ◽  
Vol 287 (34) ◽  
pp. 28386-28397 ◽  
Author(s):  
Aleksandra Siekierska ◽  
Greet De Baets ◽  
Joke Reumers ◽  
Rodrigo Gallardo ◽  
Stanislav Rudyak ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Pharmacological Chaperone

scholarly journals Decreased Nitric Oxide Bioavailability in a Mouse Model of Fabry Disease

2009 ◽  
Vol 20 (9) ◽  
pp. 1975-1985 ◽  
Author(s):  
Liming Shu ◽  
James L. Park ◽  
Jaeman Byun ◽  
Subramaniam Pennathur ◽  
Jessica Kollmeyer ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Mouse Model ◽  
Fabry Disease ◽  
Nitric Oxide Bioavailability

Gene Expression Profiling of a Mouse Model of Fabry Disease

2012 ◽  
Vol 105 (2) ◽  
pp. S27
Author(s):  
Shaalee Dworski ◽  
Salvador Mejia-Guerrero ◽  
Natalia Pacienza ◽  
Bryan Au ◽  
Jeffrey Medin
Keyword(s):  
Gene Expression ◽  
Mouse Model ◽  
Fabry Disease ◽  
Gene Expression Profiling ◽  
Expression Profiling
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