About 1,930 results

ALLMedicine™ Fabry Disease Center

Research & Reviews  741 results

A Case of a 49-Year-Old Man with Nonclassical Fabry Disease Diagnosed by Renal Biopsy.
Nephron Fu L, Zhang P et. al.

Sep 15th, 2021 - Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the galactosidase A (GLA) gene that result in deficiency of α-GLA activity, leading to major organ failure and premature mortality. According to different dise...

Rare presentation of Fabry disease as 'burnt-out' hypertrophic cardiomyopathy.
BMJ Case Reports; Williams S, El-Medany A et. al.

Sep 5th, 2021 - We herein report the case of a 53-year-old man who was historically diagnosed with hypertrophic cardiomyopathy (HCM) and was lost to follow-up, before presenting with end-stage heart failure. This was initially suspected as dilated cardiomyopathy ...

Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 ...
International Journal of Environmental Research and Publi... Nowicki M, Bazan-Socha S et. al.

Aug 28th, 2021 - 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 arou...

Prompt Agalsidase Alfa Therapy Initiation is Associated with Improved Renal and Cardiov...
Drug Design, Development and Therapy; Hughes D, Linhart A et. al.

Aug 26th, 2021 - The timing of enzyme replacement therapy initiation in patients with Fabry disease is hypothesized to be critical. In this study, we used Fabry Outcome Survey data to assess the impact of prompt versus delayed initiation of treatment with agalsida...

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Guidelines  1 results

Fabry disease practice guidelines: recommendations of the National Society of Genetic C...
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 →

News  26 results

Fast Five Quiz: Fabry Disease

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...

FDA Approves First Oral Drug for Fabry Disease

Aug 13th, 2018 - The US Food and Drug Administration (FDA) has approved migalastat (Galafold, Amicus Therapeutics) for adults with Fabry disease and a genetic mutation determined to be amenable to treatment with the drug on the basis of in vitro assay data. Migala...

Table of Surrogate Endpoints That Were the Basis of Drug Approval or Licensure

What is the purpose of the Surrogate Endpoint Table? FDA’s surrogate endpoint table provides valuable information for drug developers on endpoints that may be considered and discussed with FDA for individual development programs. This table also f...

Drug Trials Snapshots

Contact Us at Snapshots@fda.hhs.gov  Download 2020 Drug Trials Snapshots Summary Report (PDF - 2 MB)  Download 2015 - 2019 Drug Trials Snapshots Summary Report (PDF - 1 MB) Previous Summary Reports  Download 2019 Drug Trials Snapshots Summary Repo...

Novel Drug Approvals for 2018

2018 New Approvals Report (PDF - 2 MB) Text Version Innovation drives progress. When it comes to innovation in the development of new drugs and therapeutic biological products, FDA’s Center for Drug Evaluation and Research (CDER) supports the phar...

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