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FabryScan Screening Tool Shows Promise in Diagnosing Disease

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…

Gene Therapy AVR-RD-01 Effectively Prevents Buildup of Toxic Gb3 in Fabry Patients, Interim Data Show

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…

European Initiative Targets Diagnosis, Treatment of Rare Diseases

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…

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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…