Although common in patients with Gaucher disease, antibody abnormalities are not associated with disease severity, a large French study reports. Still, monitoring these patients is important because they may develop blood malignancies such as non-Hodgkin’s lymphoma and multiple myeloma, the researchers said. Their findings also revealed that…
One of the most disabling aspects of Gaucher disease (GD) is skeletal issues that leave patients often experiencing bone pain and impaired mobility. In a recent case report, researchers described a young woman with GD reporting severe ankle pain, her physical examination results, and the treatment course that doctors applied. The report, titled “…
Cerdelga (eliglustat) was recently approved in the U.S. and Europe for the long-term treatment of a subset of adult patients with Gaucher disease type 1 (GD1). Researchers at Sanofi Genzyme analyzed results from several clinical trials with the goal of comparing Cerdelga with Cerezyme (imiglucerase), an enzyme replacement therapy drug. Results…
Researchers described the case of a patient with Gaucher Disease type 3 (GD3), who developed eye lesions despite long-term enzyme replacement therapy (ERT). In light of such findings, they recommend that thorough ophthalmic assessment be included in the annual examinations of patients with GD3. The case report, “The appearance of newly identified intraocular lesions…
Researchers analyzed the occurrence of Parkinson’s disease (PD) markers in type 1 Gaucher disease (GD) patients, who generally have an increased risk of developing Parkinson’s, and identified a series of markers for PD. The findings, which align with previous research, indicate that Gaucher patients and mutation carriers are an important population for the exploration…
Researchers investigated the range of associated conditions in patients with Gaucher disease type 1, the drugs prescribed to treat them, and their potential for drug-drug interactions with GD specific therapies using data. The findings, based on information from the U.S. and Germany, point to an extensive number of comorbidities and prescribed…
Researchers at Israel’s Rambam Health Care Campus and Pfizer conducted a literature review with the objective of providing insight into the measurement, management, and practice guidelines of fatigue in Gaucher disease. The results of the analysis and survey suggest a need for additional investigation of fatigue in patients, the establishment…
A multi-disciplinary team of researchers from several Swedish institutions evaluated the involvement of mutations in glucocerebrosidase (GBA), in the development of Gaucher disease in relationship to Parkinson’s Disease cases. Three genetic variants were associated with PD in the study population, suggesting that GBA genetic mutations may be risk factors and play a…