News

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

Most people with Gaucher disease (GD) would like to be informed by their health care provider at diagnosis of their risk of developing Parkinson’s disease, a survey among U.S. patients shows. The study, “Knowledge and attitudes of Parkinson’s disease risk in the Gaucher population,” was published…

Oral treatment with ambroxol — an investigational chaperone therapy — plus enzyme replacement therapy (ERT) was found to be safe over a course of 4.5 years, and helped partially restore glucocerebroside activity in people with neuronopathic forms of Gaucher disease (GD), a small trial suggests. The trial, in…

A laboratory test using blood samples could help identify Gaucher disease (GD) patients likely to respond to experimental chaperone therapies, a study reports. The assay is based on macrophages, white blood cells particularly affected in GD, and could help optimize the effectiveness of chaperone therapies…

The U.S. Food and Drug Administration (FDA) granted orphan drug designation to AVR-RD-02, a gene therapy candidate for the treatment of Gaucher disease. AVR‑RD‑02, being developed by Avrobio, recently advanced to its first clinical study of the therapy’s safety and effectiveness…

Bone problems are highly common among people with Gaucher disease, with symptoms including chronic bone pain, death of bone tissue due to insufficient blood supply to bones, and fractures, a long-term study shows. The research, “Bone Manifestations in Gaucher Disease: A Monocentric Study of 128 Patients,” will be…

Prevail Therapeutics and Lonza Pharma & Biotech will collaborate in the development and production of Prevail’s PR001 gene therapy for children with type 2 Gaucher disease and for select patients with Parkinson’s disease, the companies announced. Prevail is looking to start recruiting patients with type 2, or pediatric…

Infants who are born encased in a tight and shiny membrane made of skin cells that resembles plastic wrap, and commonly called “collodion babies,” may have severe perinatal (fetal) Gaucher disease, a case report suggests. While the relationship between the two is fully established, this report highlights the importance…

Gaucher disease can predispose patients to rare types of blood cancer, and doctors should be vigilant for the development of these malignancies, a case report suggests. The study, “A case of bony lytic lesions in a patient with Gaucher disease,” was published in the journal…

Gaucher disease is not common in people with a group of disorders called plasma cell dyscrasias (PCDs), which include multiple myeloma. But screening for these disorders among Gaucher patients could be helpful, according to new research. The study, “Screening for Gaucher disease among patients with plasma cell…