News

Gaucher disease type 1 (GD1) patients who continued Cerdelga (eliglustat) treatment in an extension study confirmed general organ improvement. The results of a Phase 3 trial extension were reported in a study titled “Outcomes after 18 Months of Eliglustat Therapy in Treatment-Naïve Adults with Gaucher Disease Type 1: The…

People with Gaucher’s disease have mixed views about using oral substrate reduction therapies as an alternative to enzyme replacement therapies, a study reports. Some favor substrate reduction therapies, or SRTs, and some enzyme replacement therapies, or ERTs. The main concern that patients expressed about SRTs in an online survey was…

An ongoing clinical trial in the United Kingdom aims to determine factors that may predict the severity of Gaucher disease (GD) in adults and children, along with patients’ response to therapy. It focuses particularly on how Gaucher may lead to other diseases of the bone and brain, or to cancer. The observational study (NCT03240653) is for patients with…

Baebis recently announced that Seeker, the company’s novel newborn screening laboratory platform designed to measure the activity of lysosomal enzymes from newborn dried blood specimens, has been granted a CE Mark and is now available in Europe and in all countries that recognize CE Mark. Reduced activity of lysosomal…

Poor bone health in people with Gaucher disease is likely driven by processes independent of the condition, researchers at Argentina’s National University of La Plata report. They identified the prime suspects in bone deterioration as increased activity in bone degrading cells and altered immune response. The findings could lead to therapies…

The benefits of newborn screening for lysosomal storage disorders such as Gaucher disease were not directly apparent 15 months after Illinois launched statewide screening. Long-term follow-up is needed to assess the true benefits and risks of the screening, researchers from the Feinberg School of Medicine of Northwestern University…

Sanofi Genzyme established the Chart Your Own Course scholarship program back in 2013 to help students with lysosomal storage disorders pursue their dreams. Judges will select the 15 winners of this year’s fifth annual installment of the competition soon, according to a press release. And applications for 2018 will be…

Substrate reduction therapy (SRT) may help manage Gaucher disease symptoms that do not respond to first-line enzyme replacement therapies (ERT), according to a case report featured in the journal Molecular Genetics and Metabolism Report. The current main treatment options for Gaucher disease are ERT and SRT. ERT is based on…

Researchers found that combining a new, noninvasive technique called trabecular bone score (TBS) with bone mineral density techniques helps to better identify Gaucher disease patients at increased risk for bone fractures. The study, “Skeletal involvement in type 1 Gaucher disease: Not just bone mineral density,” was published in the journal …

Although people with Gaucher disease have a higher risk of developing Parkinson’s disease later in life, the link between the two diseases is rarely addressed in a genetic counseling setting. But in implementing new strategies for genetic counseling, questions need to be discussed that are specific to the settings in which…