News

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…

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

A targeted therapy currently being investigated for treating certain types of cancer can overcome some of the limitations of standard enzyme replacement therapy and be a promising therapeutic avenue for Gaucher disease and other lysosomal storage disorders, a study says. The therapy, which uses small cellular carriers to…

Magnetic resonance spectroscopy (MRS) — a specialized imaging test to visualize and measure the amount of fat in certain regions of the body — may help monitor disease severity and treatment response in people with Gaucher disease, a pilot study suggests. The study, “Gaucher…

Due to the current COVID-19 outbreak, Avrobio announced that it has paused dosing new patients in clinical trials of its gene therapy candidates, including a Phase 1/2 study testing AVR-RD-02 in people with Gaucher disease type 1. This trial’s first Gaucher patient is enrolled and…

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…

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…

The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…

Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…