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About 2,565 results

ALLMedicine™ Fabry Disease Center

Research & Reviews  928 results

Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons lea...
https://doi.org/10.1186/s13023-022-02392-9 10.1038/gim.2015.42 10.1016/j.jval.2011.05.002 10.1177/2326409816666298 10.1056/NEJM196705252762101 10.1093/hmg/3.10.1795 10.1007/8904_2012_167 10.3390/ijms18010119 10.1007/8904_2015_418 10.1007/s00439-017-1779-6 10.1111/j.1365-2362.2004.01309.x 10.1136/jmg.38.11.769 10.1136/jmg.38.11.750 10.1086/504601 10.1001/jama.281.3.249 10.1161/CIRCGENETICS.109.862920 10.1111/cge.14102 10.1016/j.ymgmr.2019.100529 10.1016/j.ymgme.2018.06.004 10.1016/S0140-6736(09)61493-8 10.1016/j.ymgme.2010.06.002 10.1111/j.1399-0004.2004.00219.x 10.1136/jmedgenet-2011-100407 10.1186/1477-7525-10-116 10.1111/ijcp.12914 10.1080/08035320510031045 10.1111/j.1651-2227.2010.02101.x 10.1111/j.1399-0004.2011.01671.x 10.1016/j.ymgmr.2015.02.002 10.1186/s13023-015-0338-2 10.2147/DDDT.S207856 10.1016/j.clinthera.2020.10.007 10.1016/j.ymgme.2011.03.022 10.3390/ijms17121965 10.1186/s13023-016-0473-4 10.2147/DDDT.S313789 10.2147/DDDT.S249433 10.1093/eurheartj/ehm153 10.1016/j.ymgmr.2017.10.008 10.1136/jmg.2008.065904 10.1212/WNL.0000000000001333 10.1016/j.amjhyper.2006.01.011 10.1111/j.1523-1755.2005.00294.x 10.1159/000168482 10.2215/CJN.03130411 10.1016/j.ekir.2019.05.597 10.1016/j.ymgme.2018.12.392 10.1111/j.1432-2277.2008.00824.x 10.1080/08035320510028076 10.1186/s12883-017-0810-9 10.1186/s12886-016-0374-2 10.1136/bjo.2006.100602 10.1371/journal.pone.0120814 10.1111/j.1365-2362.2006.01701.x 10.1111/j.1651-2227.2007.00216.x 10.1016/j.cgh.2007.08.012 10.1111/j.1365-2133.2007.08002.x 10.1111/j.1742-1241.2006.01061.x 10.1136/jmg.2004.025791 10.1002/jimd.12313 10.1080/08035250500275022 10.1136/jmg.2005.036327 10.1111/j.1399-0004.2009.01345.x 10.1016/j.ymgme.2016.05.009 10.1097/GIM.0b013e3181bb05bb 10.1186/s12947-019-0151-5 10.1007/8904_2012_165 10.1016/j.amjcard.2017.04.016 10.1136/jmedgenet-2014-102797 10.1016/j.ymgme.2016.06.007 10.1186/1750-1172-8-29 10.1186/1750-1172-8-47 10.1093/ndt/gfr420 10.1111/joim.12077 10.3310/hta16390 10.1111/j.1399-0004.2012.01947.x 10.1093/ndt/gfy357 10.1371/journal.pone.0233460 10.1371/journal.pone.0225071 10.1016/j.ymgmr.2022.100841
Orphanet Journal of Rare Diseases; Beck M, Ramaswami U et. al.

Jun 21st, 2022 - Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 marks the 20th ann...

X-Linked Kidney Disorders in Women.
https://doi.org/10.1016/j.semnephrol.2022.04.002
Seminars in Nephrology; Quinlan C, Rheault MN

Jun 20th, 2022 - A number of genes that cause inherited kidney disorders reside on the X chromosome. Given that males have only a single active X chromosome, these disorders clinically manifest primarily in men and boys. However, phenotypes in female carriers of X...

A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease
https://clinicaltrials.gov/ct2/show/NCT05280548

Jun 16th, 2022 - Randomized period: the total duration will be up to approximately of 20 months (1 month screening 18 months of treatment and a possible follow-up period of 1 month if no participation in the open label extension period) Open-label extension period...

Late-onset Fabry disease: the cardiac sequela.
https://doi.org/10.1136/bcr-2021-247917
BMJ Case Reports; Tremblay J, Kim S et. al.

Jun 10th, 2022 - We describe a patient with Fabry disease (FD) who initially presented with atrial fibrillation without left ventricular hypertrophy (LVH) 14 years before being correctly diagnosed with FD. In the interim, he survived a myocardial infarction compli...

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Guidelines  1 results

Fabry disease practice guidelines: recommendations of the National Society of Genetic C...
https://doi.org/10.1007/s10897-013-9613-3
Journal of Genetic Counseling; Laney DA, Bennett RL et. al.

Jul 19th, 2013 - Identification and comprehensive care of individuals who have Fabry disease (FD) requires a multidisciplinary approach inclusive of genetic testing, test interpretation, genetic counseling, long term disease symptom monitoring, treatment recommend...

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Drugs  4 results see all →

Clinicaltrials.gov  58 results

A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease
https://clinicaltrials.gov/ct2/show/NCT05280548

Jun 16th, 2022 - Randomized period: the total duration will be up to approximately of 20 months (1 month screening 18 months of treatment and a possible follow-up period of 1 month if no participation in the open label extension period) Open-label extension period...

A Study of Replagal in Treatment-naïve Adults With Fabry Disease
https://clinicaltrials.gov/ct2/show/NCT04840667

Jun 6th, 2022 - In this study, adults with Fabry Disease who have not had any treatment for this condition will be treated with Replagal. The main aim of the study is to check if Replagal improves kidney function and heart structure of participants with Fabry Dis...

Arrhythmia Burden, Risk of Sudden Cardiac Death and Stroke in Patients With Fabry Disease
https://clinicaltrials.gov/ct2/show/NCT03305250

May 31st, 2022 - This is a 3-year open-label multicentre randomised controlled trial assessing arrhythmia burden in patients with Fabry cardiac disease. This is an observational study, but with implantable loop recorder (ILR) insertion at recruitment and removal a...

Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease
https://clinicaltrials.gov/ct2/show/NCT03678324

May 26th, 2022 - Fabry disease (FD) is a lysosomal storage disease caused by a deficiency in an enzyme that degrades components of the outer cell wall. A deficiency of this enzyme in humans has been associated with stroke. In males with FD, 6.9% have a stroke by 3...

To Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry Disease
https://clinicaltrials.gov/ct2/show/NCT04143958

Apr 25th, 2022 - The study will have a screening period of up to 9 weeks. Eligible participants will be randomized to switch to agalsidase beta or to continue agalsidase alfa in a 1:1 ratio for a period of 12 months (52 weeks).

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News  35 results

Enlarging purple plaque on leg
https://www.mdedge.com/familymedicine/article/248261/dermatology/enlarging-purple-plaque-leg
MDedge Family Medicine;

Nov 4th, 2021 - Clinical and dermoscopic features were consistent with a sporadic angiokeratoma, a benign ectasia of vessels associated with keratinization. Diagnosis was confirmed with shave biopsy.

Fast Five Quiz: Fabry Disease
https://reference.medscape.com/viewarticle/948074

Apr 2nd, 2021 - Fabry disease is an X-linked lysosomal disorder which results in excessive deposition of neutral glycosphingolipids in the vascular endothelium of multiple organs as well as in epithelial and smooth muscle cells. The progressive endothelial accumu...

Lysosomal Storage Disorders: Marking Milestones and Moving Forward
https://www.onclive.com/view/lysosomal-storage-disorders-marking-milestones-and-moving-forward

Dec 20th, 2020 - Richard Moscicki, MD The 12th International Congress of Human Genetics attracted approximately 7500 people this year, including scientists, clinicians, and industry representatives, a turnout that organizers said constituted the largest-ever gat...

Same Mission, New Role for Genzyme Executive: Head of Rare Diseases Committed to Patients
https://www.onclive.com/view/same-mission-new-role-for-genzyme-executive-head-of-rare-diseases-committed-to-patients

Dec 20th, 2020 - Rogério Vivaldi, MD Rogério Vivaldi, MD, has vivid memories of the first patient with Gaucher disease ever treated in Brazil with enzyme replacement therapy (ERT ). The patient was a shy 14-year-old boy struggling to play soccer, even though he ...

FDA Drug Approvals: Neurology — Year in Review 2018
https://reference.medscape.com/viewarticle/907436_4

Jan 15th, 2019 - Other Neurology Drug Approvals Onpattro (patisiran) Patisiran is indicated for adults with hereditary transthyretin-mediated amyloidosis with polyneuropathy (hATTR-PN). The drug contains a double-stranded, small-interfering ribonucleic acid (siRNA...

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