News

Avrobio’s investigational gene therapy AVR-RD-01 shows potential in promoting durable beneficial effects to treat Fabry disease, with enhanced therapeutic activity compared with the standard-of-care enzyme replacement therapy, according to preliminary clinical data. These findings were reported after the evaluation of the first eight patients with Fabry disease who…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

Sperm abnormalities in men with Fabry disease do not compromise their fertility or overall reproductive function, a study finds. The findings of the study, “Semen and male genital tract characteristics of patients with Fabry disease: the FERTIFABRY multicentre observational study,” were published in Basic and Clinical Andrology.

Rats that mimic Fabry disease develop eye symptoms like those observed in human patients. These animals can be used to test current and future therapies for eye problems resulting from the disease, as well as provide new insights into their underlying biology. The study with that finding, “Rats deficient…

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

AMT-190, uniQure‘s investigational gene therapy for the treatment of Fabry disease, shows promise as a one-time therapy option that may someday replace enzyme replacement therapy (ERT) in this patient population. The findings were discussed in an oral presentation titled, “Development of an AAV5-Based…

Few nephrologists in Russia are aware of Fabry disease, which is a problem that could be addressed by screening and diagnosing at-risk patients with end-stage renal disease who are undergoing hemodialysis. Also, the highest prevalence of Fabry disease in Russian dialysis units is for men…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

Protalix BioTherapeutics and Chiesi Farmaceutici are planning to submit a biologics license application with the U.S. Food and Drug Administration (FDA) for PRX-102 (pegunigalsidase alfa) as a treatment for Fabry disease, the companies have announced. After several months, and a series of meetings and correspondence with…