News

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 has, ... 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. The ... 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 some ... 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 liver ... 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FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases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 as ... 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 genetic ... 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 sign ... Read more

January 22, 2019

Computer Simulation Identifies Treatments More Likely to Correct GBA Transport in Gaucher Patients, Study Says

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A computer simulation — examining how some therapies interact with the two most common β-glucocerebrosidase (GBA) mutated forms in Gaucher disease — identified NN-DNJ and ambroxol as the most active treatments for correcting ... Read more

January 17, 2019January 18, 2019

Key to Early Diagnosis May Lie in Response to Chronic Anemia Treatment, Case Report Suggests

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Chronic anemia that does not respond to iron supplements might be a warning sign of Gaucher disease (GD) in children and could help with early diagnosis, a case report suggests. The ... Read more

January 15, 2019

Researchers Develop 2 Stem Cell Lines from Skin Cells of Gaucher Disease Patients

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Two new stem cell lines from patients with Gaucher disease have been developed and made available for studies, researchers report. The induced pluripotent stem cell (iPSC) lines — adult cells ... Read more