Increased interest in the developing field of pharmacological chaperones as a therapy in certain lysosomal conditions such as Gaucher disease prompted a study which, scientists say, confirms the potential of the prodrug concept in pharmacological chaperone therapeutics. An international group of multidisciplinary researchers conducted a study that assessed the chaperone activity when…
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…
A case report by researchers at Chacha Nehru Bal Chikitsalya Hospital in India described a child with a rare type of lung involvement in Gaucher disease. The study underscored that lung damage in Gaucher patients might be irreversible, highlighting the importance of an early diagnosis. The study, “Lung lysed: A…
Researchers at the Cairo University Pediatric Hospital, in Egypt and at the Baylor Research Institute in Dallas conducted a study on Egyptian patients with the genetic Gaucher disease (GD) type 3 and found that those patients have clinical outcomes that are very different from type 3 patients in other countries. The study, “…
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 investigating the long-term efficacy and safety of taliglucerase alfa in treatment-naïve adults with Gaucher disease (GD) reported that the drug provided clinical benefits without new or severe side effects. The study, “Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-naïve patients with Gaucher disease,” was published…
Dr. Roscoe Owen Brady, a long honored pioneer for enzyme therapeutic approaches in treating metabolic disorders including Gaucher disease, has died. Brady, bolstered by his own unlimited devotion and persistance and credited by others for research that now allows patients with Gaucher disease to live longer lives, passed away on June 13…
Researchers conducted an enzyme replacement therapy study with a group of Gaucher disease patients and found just a small fraction of patients developed anti-drug antibodies. And, no correlation between antibody development and impaired clinical responses was found. The study, “Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease,” was published…
Researchers at the Academic Medical Center Amsterdam in the Netherlands conducted a study with the aim of providing insight on the pathophysiological implications of iron accumulation in patients with Gaucher disease (GD). The study, “Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications,” published in…
