News

May 24, 2018May 24, 2018

Gaucher Patients, Families Ask to Comment on New Zealand Plan to Switch to Elelyso as Funded ERT

News

New Zealand’s Pharmaceutical Management Agency (PHARMAC) is requesting feedback on a proposed change in the enzyme replacement therapy (ERT) available for Gaucher disease types 1 and 3 under the country’s public ... Read more

May 23, 2018

Rare Case of Gaucher Disease and Chronic Myeloid Leukemia Reported in Spain

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A rare case of a patient with Gaucher disease type 1 who developed chronic myeloid leukemia — a blood cancer — and was treated simultaneously for both diseases was reported ... Read more

May 17, 2018May 17, 2018

FDA Approves Miglustat, 1st Generic Equivalent of Zavesca, to Treat Gaucher Patients

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A generic version of Zavesca (miglustat) — a substrate reduction therapy (SRT) approved to treat Gaucher disease — has been approved for similar use by the U.S. Food and Drug ... Read more

May 17, 2018May 17, 2018

‘Rare Impact Awards’ Dinner Marks Orphan Drug Act and NORD at 35

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The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The ... Read more

May 16, 2018May 16, 2018

#ECRD2018 – EU Must Do More for Rare Disease Patients, Eurordis Leaders Say

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The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna ... Read more

May 15, 2018

Gaucher Type 1 Children Have White Matter Changes in Brain Before Symptoms Appear, Study Shows

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Children with type 1 Gaucher disease have deterioration of white matter in their brains before they show any clinical symptoms, researchers at China’s Capital Medical University found. According to the study, ... Read more

May 10, 2018June 20, 2018

Lyso-Gb1 Also Reliable Response-to-Therapy Biomarker for Gaucher Patients, Study Finds

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Glucosylsphingosine (Lyso-Gb1) — a known diagnostic biomarker of Gaucher disease — is also the most reliable response biomarker to quantify how a patient is doing while under enzyme replacement therapy ... Read more

May 8, 2018

Fat Accumulation in Brain May Explain Gaucher’s-Parkinson’s Link, Mouse Study Suggests

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The accumulation of fat molecules in the brain, particularly the molecules that accumulate in Gaucher disease patients, seems to fuel the progression of Parkinson’s disease, a new mouse study suggests. ... Read more

May 3, 2018

Small Molecule Increases Glucocerebrosidase Activity, May Be Gaucher Therapy

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A potent small molecule called JZ-4109 increases the activity of glucocerebrosidase — the enzyme that is deficient in Gaucher disease — making it a potential new therapy for this disease, according ... Read more

May 2, 2018May 2, 2018

#ECRD2018 – Patient Access and Collaboration Focus of Eurordis Meeting May 10-12

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At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. ... Read more