News

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

MMJ BioScience received a licence from Health Canada to develop cannabis-derived products based on proprietary formulations for the treatment of Huntington’s disease and multiple sclerosis (MS). The license will enable MMJ to extract active pharmaceutical ingredients from the cannabis plant to manufacture gelcap medications and supply pharmaceutical-grade medicines for…

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…