News

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

Medical professionals in several countries use a range of approaches to treat Gaucher disease (GD), and data from these strategies can help determine the impact of different treatment patterns on real-world outcomes, a recent study said. The findings were reported at WORLDSymposium 2018 in San Diego, California, in a poster titled…

Women receiving enzyme replacement therapy for Gaucher disease can continue taking it while pregnant with little risk of a miscarriage or a problem delivering their baby, a study suggests. Researchers reported the finding at the WORLDSymposium on lysosomal disease in San Diego, Feb. 5-9. The poster presentation, “…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

A new protein recently identified by researchers could be used in diagnosing patients with Gaucher disease or assessing how patients are responding to therapies, a study suggests. Chitinase-3-like 1 (CHI3L1), a protein considered a pro-inflammatory marker, was found in significantly higher levels in animal models and patients with Gaucher disease.

In recognition of Rare Disease Day 2018, BioNews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

Two Cerdelga (eliglustat) pills a day are slightly better than one pill a day of the same strength at helping Gaucher type 1 patients maintain a stable disease, a Phase 3 clinical trial shows. The therapy’s maker, Genzyme, conducted the trial, which involved only patients whose disease had…

Arimoclomol, an investigative therapy being developed by Orphazyme, increases glucocerebrosidase activity in cells from Gaucher patients, including those with neuropathic forms of the disease, a new study says. Glucocerebrosidase is a lysosomal enzyme that is often deficient in these patients. The proposed therapy, which boosts production of a family…