News

Lyso-Gb1 (glucosylsphingosine) may be a sensitive marker of disease burden and treatment response in patients with Gaucher disease type 1, argue researchers from the biotechnology company Shire and Zedek Medical Center at the Hebrew University-Hadassah Medical School. Unlike other markers of treatment response, Lyso-Gb1 reflects changes in disease…

Persistent high levels of iron in patients with Gaucher disease who are receiving maintenance therapy are associated with residual Gaucher disease. This finding was reported in the study “Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment” that…

Doctors who are not Gaucher disease experts should have straightforward and easy-to-follow diagnosis guidance so patients can be treated earlier, according to a study reporting that it can take years for a patient to learn they have the disorder. The research was based on surveys of patients and Gaucher specialists. Both said…

Pain is a common symptom among patients with Gaucher disease (GD). Italian researchers say it’s caused by peripheral nerve cell damage and not only bone damage, as was previously thought. Their study, “Chronic pain in Gaucher disease: skeletal or neuropathic origin?,” appeared in the Orphanet Journal of Rare Diseases.

Researchers have identified three new compounds that can cross the blood-brain barrier and may represent a new therapeutic avenue for types 2 and 3 Gaucher disease — two forms of the disease with brain involvement. Gaucher disease is caused by mutations in the gene that encodes the beta-glucocerebrosidase (GBA) protein. Dysfunctional…

Accordant’s health programs, including its Gaucher disease program, have received a special Disease Management (DM) Accreditation from the National Committee for Quality Assurance (NCQA). NCQA is a non-profit organization that evaluates health programs giving accreditation for organizations that offer services to patients and health personnel. Earning NCQA DM Accreditation…

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…