Centogene and Orphazyme will collaborate in a Phase 2 clinical trial of arimoclomol, an experimental therapy for Gaucher disease patients with neuronal symptoms. Orphazyme’s arimoclomol boosts the production of a family of proteins involved in stress response known as heat-shock proteins (HSPs). Specifically, arimoclomol prolongs the activated form…
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 health plan. The change involves moving to Elelyso (taliglucerase alfa) as the publicly funded ERT for these…
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 for the first time in Spain. The case report, “Gaucher disease and chronic myeloid leukemia: first…
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…
