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February 14, 2019

Approved Bladder Pain Therapy Being Repurposed for Lysosomal Storage Disorders

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The Icahn School of Medicine at Mount Sinai is repurposing pentosan polysulfate sodium — an anti-inflammatory medicine approved as Elmiron for bladder pain — for the treatment of lysosomal storage disorders, ... Read more

February 12, 2019

NGF President and CEO Pays Tribute to ‘Scientific Legend’ in Gaucher, Other Metabolic Storage Disorders

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Long before Cerezyme (imiglucerase) and Cerdelga (eliglustat) were approved as Gaucher type 1 treatments, before a computer simulation was found to identify optimal treatments, and before the development of ... Read more

February 11, 2019February 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 7, 2019

Blood Cells Could Help Screen Ambroxol’s Efficacy in GD Type 3

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The effectiveness of ambroxol — a molecule that improves the folding and maturation of abnormal glucocerebrosidase — does not depend only on the type of GBA mutation a Gaucher patient ... Read more

February 5, 2019

ERT Helps Partially Restore Recycling Process in Cells from Gaucher, Fabry Patients, Study Shows

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Enzyme replacement therapy (ERT) can help restore the normal organelle recycling processes that happen in cells, improving energy production in Gaucher and Fabry disease patients, a study has found. ... Read more

February 5, 2019February 5, 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 means Dravet syndrome. All three designations became official on Oct. 1, 2018, joining ... Read more

January 31, 2019

Cerezyme and Cerdelga Equally Effective in Treating Gaucher Type 1, Small Study Reports

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Two approved treatments for Gaucher disease type 1 patients — Cerdelga (eliglustat) and Cerezyme (imiglucerase) — are equally effective as treatments, working increase hemoglobin and platelets levels, and reduce spleen and ... Read more

January 31, 2019January 31, 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 ... Read more

January 29, 2019

Case Report of Multi-Generational GD Highlights Importance of Cascade Screening

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Cascade screening — a systematic analysis performed in a family to identify the risk of any member developing a genetic disease — should be performed in families with a ... Read more

January 24, 2019

Gaucher Disease May Rarely Include GI Symptoms, Case Report Highlights

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The case of a young women with Gaucher disease type 3, which affected her small bowel, calls attention to the possibility, although rare, that certain gastrointestinal (GI) symptoms can be a ... Read more

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