News

March 5, 2019

Aneurysms in Spleen Artery Underreported in Gaucher Patients, Case Report Says

News

Although rare, aneurysms of the splenic artery are most likely underreported among patients with Gaucher disease, a case report study says. The case report, “Splenic Artery Aneurysms, a Rare Complication ... Read more

February 28, 2019February 28, 2019

Gaucher Patients Have More Complications, Illnesses than the General Population, Israeli Study Suggests

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Gaucher disease patients — especially those receiving enzyme replacement therapy — have a higher incidence of complications and other diseases than the general population, and so they should be carefully monitored ... Read more

February 26, 2019

Four New Gaucher Disease Mutations Found in Indian Patients

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A new study reports the spectrum of mutations present in Gaucher disease patients in India, identifying four previously unknown mutations and suggesting which ones might be most prevalent in that population. ... Read more

February 26, 2019February 25, 2019

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April

News

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already ... Read more

February 21, 2019

GD Biomarker Chitotriosidase Not Associated with Symptom Severity in Untreated Patients, Study Reports

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High activity of an enzyme called chitotriosidase (ChT) before treatment does not correlate with clinical or biochemical parameters in Gaucher disease, according to new research in Brazilian patients. The findings ... Read more

February 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 March ... Read more

February 19, 2019

Elelyso Safe for Use While Breastfeeding, Case Study Finds

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Elelyso (taliglucerase alfa) is safe for use by breastfeeding women with Gaucher disease, not representing a risk to the child, a case report shows. Researchers recommend this treatment can be ... Read more

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, possibly ... 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 new ... Read more

February 11, 2019February 11, 2019

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

News

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 as ... Read more