In rare cases where Parkinson’s disease occurs in Gaucher disease patients, mutations in the GBA gene — which cause Gaucher and are a risk factor for Parkinson’s — do not seem to accelerate the cognitive decline linked to the neurodegenerative disease, a small case study reports. The study, “The…
A new study reported the incidence rates of Gaucher disease and three other lysosomal storage disorders in the U.S. state of Missouri after four years of newborn screening. The results for Gaucher disease matched those from previous pilot studies, researchers said. The study, “Incidence of…
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…
