More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…
Using dried blood samples for measuring the levels of Gaucher disease biomarker glucosylsphingosine is now possible with a newly developed method by a team of researchers at Cincinnati Children’s Hospital Medical Center. The study, “A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response,” appeared in…
As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…
A recent survey of people who were tested to see if they carry Gaucher disease-causing mutations in the GBA gene asked if they believe patients should also be informed about the increased risk of Parkinson’s disease (PD) before the screening. Most of those surveyed replied yes, they think people should be…
Genetic mutations causing neuropathic Gaucher disease (GD) aggravate cognitive dysfunction in Parkinson’s disease (PD), new research shows. The study “Specifically neuropathic Gaucher’s mutations accelerate cognitive decline in Parkinson’s” was published in the journal Annals of Neurology. The pace of cognitive worsening in Parkinson’s varies significantly between patients. In…
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…
