The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to two gene therapies that M6P Therapeutics is developing — one intended for Gaucher disease, the other aiming to treat the inherited metabolic disorder mucolipidosis. The regulatory agency also awarded six rare pediatric disease designations to…
While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…
A set of small molecules called microRNA (miRNA), found in a recent study, show potential both as biomarkers and as therapeutic targets of Gaucher disease. Determining differences in the levels of these miRNA among Gaucher patients could lead to insights into disease mechanisms and to new therapeutic targets, as…
The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…
When given over two decades, Cerezyme (imiglucerase) was effective at easing most symptoms of Gaucher disease type 1 (GD1), according to long-term data from an international patient registry. Importantly, these findings were consistently observed across different patient subgroups, and were not influenced by disease severity, time of therapy…
Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…
Cerdelga (eliglustat) safely and effectively treated three adults with Gaucher disease type 1 (GD1), who switched from long-term use of enzyme replacement therapy (ERT) to this substrate reduction therapy (SRT), a study from Korea reports. The study, “One-year experience of oral substrate reduction therapy in three…
The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…
An investigational gene therapy aiming to restore GBA gene function — which is defective in people with Gaucher disease — showed efficacy both before and after symptom development in a mouse model of the disorder, a study reported. …
People with Gaucher disease are not at increased risk of severe disease if they become infected with SARS-CoV-2, the virus that causes COVID-19, new research indicates. The results were published in the journal Molecular Genetics and Metabolism, in the study “Gaucher disease and SARS-CoV-2…
