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…

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…

Caring for patients with Dravet syndrome places significant physical, emotional and time burdens on caregivers. Supportive services for Dravet families are necessary to improve not only the patients’ outcomes, but also to enhance caregivers’ quality of life, according to a recent survey. The study, “Assessing the impact of…

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…

Levetiracetam (marketed as Keppra), an anti-epileptic therapy, is significantly more effective than phenobarbital medication in infants with epilepsy, a recent study found, which could have implications for patients with Dravet syndrome. In the study, “Comparative Effectiveness of Levetiracetam vs Phenobarbital for Infantile Epilepsy,” published in JAMA Pediatrics, scientists…

Stiripentol combined with two other antiepileptic medicines seems to be an effective strategy to improve long-term seizure frequency in Dravet syndrome patients. The study that contains that finding, “Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study” was published in the journal Developmental Medicine & Child Neurology.

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…

A database created at the University of Arizona College of Medicine — Phoenix alerts physicians about medications that can be harmful to epilepsy patients on ketogenic diets. The database identifies high-carbohydrate medications that are not recommended for people on ketogenic diets.

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…

The U.S. Food and Drug Administration has granted breakthrough therapy designation to ZX008 to treat seizures associated with Dravet syndrome. This new status adds to the orphan drug and fast track designations previously granted by the FDA and the European Medicines Agency (EMA) and is intended to support the…