News

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

Scientists discovered a new mutation in the GLA gene that leads to the production of a shorter protein in a Chinese patient with Fabry disease, correlating with kidney symptoms associated with the disease, a study reports. The study, “A novel α-galactosidase A splicing mutation predisposes to Fabry disease,”…

G71.01 is, literally, the code for Duchenne muscular dystrophy.  Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanet and the American Epilepsy Society define as including Dravet syndrome. All three designations are among some 70,000 diseases listed in the latest…

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…

Enzyme replacement therapy (ERT) partially restores the function of lysosomes and mitochondria in patients with Gaucher and Fabry diseases, a study finds. The study, “Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases,” was published in PLOS One. Fabry and Gaucher…

The U.S. Food And Drug Administration (FDA) has granted orphan drug status to Avrobio’s investigational gene therapy AVR-RD-01 for the treatment of Fabry disease. AVR-RD-01 is being tested in two separate clinical trials that are still recruiting patients: AVRO-RD-01-201 Phase 2 trial (NCT03454893) and an investigator-sponsored Phase…

Protalix BioTherapeutics announced it has completed enrollment of its Phase 3 trial evaluating PRX-102 in Fabry disease patients previously treated with Shire’s Replagal (agalsidase alfa). The BRIDGE trial (NCT03018730) is an open-label switch-over study that will assess the safety and efficacy of PRX-102 in 22 patients with Fabry disease treated with Replagal for…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

Globotriaosylsphingosine (LysoGb3) blood levels can be a useful and accurate biomarker to diagnose and monitor Fabry disease, rather than only using GLA mutational status, researchers suggest. The study, “Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?,” was published in the International Journal…

Fabry Stabilization index (FASTEX) is a valid, specific, and sensible instrument to accurately assess disease stability/progression in people with classic or non-classic Fabry disease, a large study showed. The results highlighted the value of using this tool in the clinical setting to monitor Fabry patients in a standardized way.