News

Adolescents and adults with Fabry disease who live in Argentina can now be treated with Amicus Therapeutics’ oral precision medicine Galafold (migalastat). The Agency of Medicines, Food and Medical Devices (ANMAT) in Argentina has approved the use of Galafold as a monotherapy for people ages 16 or older…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

The screening tool FabryScan — consisting of a physical assessment and a questionnaire — may be useful in diagnosing Fabry disease among people with unclassified pain, according to a new study. The study, “Stratification of patients with unclassified pain in the FabryScan database,” was published in the Journal of…

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…