News

Cerdelga (eliglustat) will become the first oral treatment that England’s National Health Service (NHS) makes available to patients with Gaucher disease. At the moment, the only treatment the health service covers is enzyme replacement therapy administrated by intravenous infusion. It will begin making Cerdelga available later this year. A medical advisory…

Cerdelga (eliglustat tartrate) can be effective in treating gastrointestinal lesions in patients with Gaucher disease (GD), according to a clinical case published in BMC Medical Genetics. This finding supports the use of Cerdelga to treat patients who receive standard care with enzyme replacement therapy (ERT) but still present treatment-resistant symptoms.

The early diagnosis of children with Gaucher disease eligible for enzyme replacement therapy (ERT) helps decrease the incidence of severe complications and allows patients to have improved development, according to a new study from Spain. Researchers say that in Spain, efforts toward early diagnosis have decreased the mean age at diagnosis…

Good Start Genetics is expanding VeriYou, its physician-ordered carrier screening tests, to include screening for Gaucher disease and 18 other inherited genetic disorders that are especially prevalent among Ashkenazi Jews, or those of Eastern European origin. The expansion is being led by a partnership signed last November between Good…

The sales of Elelyso for the treatment of Gaucher disease have increased significantly so far this year, Protalix BioTherapeutics announced in a press release. Protalix BioTherapeutics is an Israel-based pharmaceutical company that develops plant cell-based medicines. Elelyso (taliglucerase alfa), a plant-based enzyme, has been widely used as an intravenous…

The Assistance Fund is now providing financial assistance to help patients living with Gaucher disease (GD). The new fund will provide GD patients and families with financial aid for copayments, coinsurance, deductibles, health insurance premiums and incidental medical expenses related to their disease. “Gaucher disease is a rare and complex…

Health Canada has approved Cerdelga (eliglustat capsules), manufactured by Sanofi Genzyme, for treating Gaucher disease type 1 (GD1) — three years after the U.S. Food and Drug Administration gave its blessing to the drug. The company says Cerdelga is currently the only first-line oral therapy for patients who are specific enzyme metabolizers, as…

The National Gaucher Foundation has endorsed a clinical study designed to identify biomarkers of Parkinson’s disease (PD), and to evaluate the connection between this disease and the occurrence of genetic mutations in GBA gene, which is central to Gaucher disease. Parkinson’s Progression Markers Initiative (PPMI) is sponsored by…

Japanese researchers analyzed brochoalveolar lavage fluid (BALF) collected from the lungs to confirm a diagnosis of perinatal lethal Gaucher disease (PLGD) in an infant who was barely two months old — leading them to conclude that BALF may be a useful tool for early diagnosis. Their report, “Bronchoalveolar lavage fluid…

The death of a 15-year-old boy with an aggressive form of heart-related Gaucher disease underscores the importance of early diagnosis of the condition, physicians said. Their case study of the teen, whose disease was caused by two copies of a mutation known as D409H, was published in the journal Cardiology…