News

After two years of Cerdelga (eliglustat) therapy, patients with Gaucher disease (GD) type 1 maintained or improved their spleen or liver health, and their red blood cell and platelet counts, according to a new study of real-world data.

Although standard therapies for Gaucher disease (GD) usually reduce liver damage, some forms of treatment — particularly enzyme replacement therapy (ERT) — seem to be linked to a higher incidence of fatty liver disease, a study found. The findings highlight the importance of constantly monitoring liver health…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from it.

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…

Components of the RANK pathway — a biological pathway that acts as a bridge between the immune and skeletal systems — may be used as markers of bone disease progression in patients with Gaucher disease, a study says. The study, “Effect of Substrate Reduction…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

Non-motor symptoms, such as cognitive impairments and depression, may be used as early predictors of parkinsonism in Gaucher disease patients on enzyme replacement therapy (ERT), according to a recent study. The study, “Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher…

Measuring glucocerebrosidase (GCase) activity in dried blood spots is a reliable and cost-effective method to diagnose Gaucher disease early in individuals with splenomegaly (enlarged spleen) and/or thrombocytopenia (low blood platelet count), a study has found. The study, “High risk screening for Gaucher disease in patients with…