News

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

PRX-102 (pegunigalsidase alfa) is safe for the treatment of patients with Fabry disease and has better stability over other available therapies, according to interim data from a Phase 3 clinical trial. The most recent results from the trial were discussed during the 15th Annual WORLDSymposium 2019, recently…

Treatment with the gene therapy candidate AVR-RD-01 showed sustained efficacy and was well-tolerated in Fabry disease patients regardless of prior enzyme replacement therapy (ERT), according to preliminary results of a Phase 1 and a Phase 1/2 trial. Avrobio’s AVR-RD-01 is a gene therapy that uses hematopoietic…

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…