Enzyme replacement therapy (ERT) has limited effectiveness in addressing bone-related symptoms in Gaucher disease, namely the death of bone tissue due to loss of blood supply, a case study shows. The findings suggest that bone health should be closely monitored in these patients. The study, “Bone manifestations in neuronopathic Gaucher…
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term…
Adults with Gaucher disease type 1 (GD1) show a high prevalence of irreversible bone lesions, despite reaching treatment goals for reduced levels of blood cells, according to a study. Findings also indicated that low bone formation, bone marrow infiltration, and spleen removal may be implicated in these lesions. The…
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…
Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…
Although rare, aneurysms of the splenic artery are most likely underreported among patients with Gaucher disease, a case report study says. The case report, “Splenic Artery Aneurysms, a Rare Complication of Type 1 Gaucher Disease: Report of Five Cases,” was published in the Journal of Clinical Medicine.
Gaucher disease patients — especially those receiving enzyme replacement therapy — have a higher incidence of complications and other diseases than the general population, and so they should be carefully monitored by their physicians, regardless of their treatment status, an Israeli study shows. The study, “Population-based cohort of 500…
A new study reports the spectrum of mutations present in Gaucher disease patients in India, identifying four previously unknown mutations and suggesting which ones might be most prevalent in that population. The study, “Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the…
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…
High activity of an enzyme called chitotriosidase (ChT) before treatment does not correlate with clinical or biochemical parameters in Gaucher disease, according to new research in Brazilian patients. The findings also revealed a marked reduction in ChT activity with 12 months of treatment. The study, “Chitotriosidase on…
