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…

In France, infants with Prader-Willi syndrome (PWS) are being diagnosed and receiving care soon after birth. But improvements are still needed, including proper prenatal and neonatal diagnosis and care, a study found. The findings were published in the journal Orphanet Journal of Rare Diseases in a study titled, “…

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…

Obstructive sleep apnea is the most frequent sleep breathing disorder in Prader-Willi syndrome (PWS) pediatric patients, according to an Italian study. The results suggest that sleep disorders may be more severe and frequent in PWS patients than previously thought, stressing the importance of larger studies to clarify this and to…

A new study found that patients more recently diagnosed with Prader-Willi syndrome (PWS) have higher survival rates than those diagnosed decades ago. This decrease in mortality likely is the result of earlier diagnosis and proactive treatment intervention, researchers said. The data were published in the journal Genetics in Medicine in a…

Results of an Alizé Pharma clinical trial showed that the company’s investigative therapy AZP-531 is safe and blocks patients’ tendency to eat excessively in Prader-Willi syndrome (PWS). The study, “AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled…

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…

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…

Soleno Therapeutics and the U.S. Food and Drug Administration recently held a meeting to mark the end of a successful Phase 2 clinical trial evaluating diazoxide choline controlled-release (DCCR) for the treatment of Prader-Willi syndrome (PWS). DCCR is an extended-release, crystalline salt formulation of diazoxide designed to…