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With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

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…

Edge Research, funded by the Muscular Dystrophy Association (MDA), carried out a survey called ONEVoice to evaluate key areas of concern and devise solutions among carers, family members and patients with different types of neuromuscular disorders. ONEVoice, which took place from Jan. 18 to Feb. 20, involved…

Iron-induced cell death may contribute to the progression of Friedreich’s ataxia, a study in human and mice cells shows. Inhibition of this degenerative mechanism may represent a new therapeutic strategy for people affected by this rare disease, researchers suggest. The study, “Ferroptosis as a novel therapeutic target…

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…

Neurocrine Biosciences and Voyager Therapeutics have formed an alliance in hopes of bringing potentially life-changing treatments to market for Friedreich’s ataxia (FA) and Parkinson’s disease. The collaboration is aimed at developing and commercializing Voyager’s gene therapy programs, including VY-FXN01 for Friedreich’s and VY-AADC for…

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…

A 12-week treatment with the investigational therapy omaveloxolone improved neurological function, and was safe and well-tolerated by Friedreich’s ataxia (FA) patients in a Phase 2 clinical trial. The study, “Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia,” was published in the journal…