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February 22, 2019February 20, 2019

Vienna to Host RARE2019 Meeting on Rare Diseases

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About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The ... Read more

February 13, 2019February 13, 2019

Phase 3 Trial Shows Increased Stability of PRX-102 Over Other ERTs for Fabry Disease

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PRX-102 (pegunigalsidase alfa) is safe for the treatment of patients with Fabry disease and has better stability over other available therapies, according to interim data from a Phase 3 ... Read more

February 12, 2019February 27, 2019

Gene Therapy AVR-RD-01 Shows Sustained Efficacy in Early Trial Data

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Treatment with the gene therapy candidate AVR-RD-01 showed sustained efficacy and was well-tolerated in Fabry disease patients regardless of prior enzyme replacement therapy (ERT), according to preliminary results of ... Read more

February 11, 2019

Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide

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Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run ... Read more

February 6, 2019February 6, 2019

New Splicing Mutation in GLA Gene That Leads to Shorter Protein Found in Fabry Patient, Study Says

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Scientists discovered a new mutation in the GLA gene that leads to the production of a shorter protein in a Chinese patient with Fabry disease, correlating with kidney symptoms associated with ... Read more

February 4, 2019February 6, 2019

ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration

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G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanet and the American Epilepsy Society ... Read more

January 30, 2019January 30, 2019

FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases

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The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal ... Read more

January 23, 2019January 23, 2019

Enzyme Replacement Therapy Partially Restores Cellular Functions in Patients With Fabry and Gaucher Diseases, Study Finds

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Enzyme replacement therapy (ERT) partially restores the function of lysosomes and mitochondria in patients with Gaucher and Fabry diseases, a study finds. The study, “Impaired autophagic and mitochondrial functions are ... Read more

January 16, 2019January 16, 2019

Avrobio Earns FDA Orphan Drug Designation for Fabry Treatment AVR-RD-01

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The U.S. Food And Drug Administration (FDA) has granted orphan drug status to Avrobio’s investigational gene therapy AVR-RD-01 for the treatment of Fabry disease. AVR-RD-01 is being tested in two separate clinical ... Read more

January 8, 2019January 8, 2019

Protalix BioTherapeutics Completes Enrollment for PRX-102 Phase 3 Trial

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Protalix BioTherapeutics announced it has completed enrollment of its Phase 3 trial evaluating PRX-102 in Fabry disease patients previously treated with Shire’s Replagal (agalsidase alfa). The BRIDGE trial (NCT03018730) is an open-label switch-over study that will ... Read more

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