News

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) —…

Long-term treatment with Cerdelga (eliglustat) safely and consistently lessens or stabilizes disease severity in adults with Gaucher disease type 1 (GD1), according to a six-year study in five patients. The findings are consistent with results from previous studies, further supporting Cerdelga’s safety and effectiveness in this…

Children with type 1 Gaucher disease are more likely to experience social withdrawal, anxiety, and depression with poorer health-related quality of life than their peers without the disorder, researchers suggest. However, no such problems were observed in young adults who have the disorder. The study, “Quality of…

Children and adults with a rare genetic profile causing type 1 Gaucher disease (GD1) may exhibit mild symptoms and not require treatment, research suggests. The study, “The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling,” was…

Developing abnormal antibodies specific to glucosylsphingosine — a fat that builds up in cells of Gaucher disease patients — may be the cause of monoclonal gammopathy, and explain why patients with type 1 disease…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…