The U.S. Food and Drug Administration (FDA) has given orphan drug designation to the oral therapy branaplam (LMI070) as a potential treatment for Huntington’s disease, the therapy’s developer, Novartis, announced. The designation is given to medications that have the potential to treat rare diseases — defined in…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

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,…

CHDI Foundation has teamed up with PTC Therapeutics to try to advance PTC’s work on small-molecule compounds that can reduce the production of huntingtin, the protein responsible for Huntington’s disease. The compounds have shown promise. They decreased the protein in a mouse model carrying the human huntingtin gene. And they…

Olesoxime, a drug shown to have neuroprotective properties, may have beneficial effects in Huntington’s patients through reduction of calpain-mediated huntingtin cleavage, according to the study “The calpain-suppressing effects of olesoxime in Huntington’s disease,” published in the journal Rare Diseases. Olesoxime is a small molecule…