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 Administration (FDA),…
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 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…
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 said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…
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, “Brain white matter microstructural alterations in children of type I Gaucher disease characterized with diffusion…
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 (ERT), according to a retrospective study. The study, “Glucosylsphingosine is a reliable response biomarker in Gaucher disease,”…
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. The findings help explain why patients with Gaucher’s have an increased risk for Parkinson’s disease and suggest that targeting fat…
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 to a recent study. The study, “β-Glucocerebrosidase modulators promote dimerization of β-glucocerebrosidase and reveal an allosteric binding…
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. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…
Three possible new mutations in patients with Gaucher disease type 2 were identified by researchers in Turkey, who also found a higher-than-usual incidence of this rare subtype in the group studied, a case study reports. These findings of likely new mutations highlight the variability of this severe lysosomal storage disorder.
Looking at the activity of the Gaucher-associated enzyme — beta glucocerebrosidase (GBA) — using dried blood spot samples allows for an early diagnosis of likely Gaucher disease in children with mild or atypical symptoms, a study from China reports. This finding could be particular importance to children at high risk…
