News

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

Ionis Pharmaceuticals‘ experimental therapy IONIS-HTTRx significantly reduced levels of the protein responsible for Huntington’s disease (HD) in early stage patients, according to top-line results from a Phase 1/2 clinical trial. The data, presented at the 13th Annual HD Therapeutics Conference in Palm Springs, California, confirm IONIS-HTTRx…

The Huntington’s Disease Society of America (HDSA) recently announced that 43 Huntington’s disease (HD) care facilities are now designated as HDSA Centers of Excellence for 2018 — up from 41 centers last year. HDSA started with only 20 Centers of Excellence across the United States in 2015,…

Blocking specific glutamate receptors was seen to improve cellular, motor, and cognitive skills in a mouse model of Huntington’s disease. The study, “mGluR5 antagonism increases autophagy and prevents disease progression in the zQ175 mouse model of Huntington’s disease,” appeared in the journal Science Signaling. Glutamate is the main excitatory neurotransmitter…

Nerve cells contain proteins that send signals to other cells and proteins that receive neighboring cells’ signals. Researchers at Rensselaer Polytechnic Institute in Troy, New York, are trying to understand how the sending proteins end up on one side of a nerve cell’s membrane and the receiving proteins on the…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

The U.S. Food and Drug Administration recently granted orphan drug status to Emerald Health’s EHP-102, an investigative therapy for Huntington’s disease. EHP-102 is a patented cannabigerol (CBG) derivative in development for the treatment of Huntington’s and Parkinson’s disease. CBG is a natural cannabinoid with potent effects that has been…

Nerve cells that mimic the molecular features of Huntington’s disease have been created from patients’ skin cells, researchers said. The study, “Striatal neurons directly converted from Huntington’s disease patient fibroblasts recapitulate age-associated disease phenotypes,” was published in Nature Neuroscience. These engineered nerve cells exhibit many of…

In recognition of Rare Disease Day 2018, Bionews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…