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…
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…
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…
The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…
Children with Gaucher disease who are on enzyme-replacement therapy (ERT) continue to have abnormal levels of immune cells, despite partial improvements, a study suggests. Therefore, these patients may need long-term ERT to restore their immune responses to desired levels, scientists say. The study, “Downregulation of…
In Spain, a quarter of Gaucher disease patients being given enzyme replacement therapy (ERT) infusions at hospitals experienced dose interruptions due to the COVID-19 pandemic, a study reports. Greater attention needs to be given to ways of ensuring continued treatment for these people, including ways of ensuring at-home use, its…
A first patient has been treated in a Phase 1/2 trial of AVR-RD-02, Avrobio‘s investigational gene therapy for Gaucher disease type 1, the company announced. “The first patient dosed is an important milestone for the Gaucher disease community and our AVR-RD-02 program,” Geoff MacKay, president and CEO of Avrobio, said…
A case report about two sisters in Brazil with Gaucher type 1 disease (GD1) and severe bone disease represents a new genetic profile, researchers say. Although the uncommon genetic alterations have been reported previously, researchers suggest these are the first known GD patients with this combination of two mutations.
Myelodysplastic syndrome (MDS) is rare in people with Gaucher disease type 1 (GD1) but because it is difficult to detect it may lead to under-diagnosis in this patient population, a new study suggests. Titled, “Gaucher disease, myelodysplastic syndrome and ICUS,” the study was published in the…