News

As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…

Three new mutations in three of four babies with Gaucher disease type 2 were reported in a Turkish study, further illustrating variability of this disease — even in Gaucher patients with the same subtype, the investigators said. The research, “Four Gaucher disease type II patients with three…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

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…