Retrophin, Horizon Donate $3M Each to Rare Disease Institute at Children’s National

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 new interim analysis of the PhaseOut DMD clinical trial shows that ezutromid (SMT C1100) significantly decreased muscle inflammation in patients with Duchenne muscular dystrophy (DMD), Summit Therapeutics announced. Ezutromid is called a utrophin modulator because it is able to trigger utrophin production in people who lack dystrophin,…

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…

For the first couple years of having mitochondrial myopathy, I used a manual wheelchair to get around. But when the time came to receive my first power wheelchair, my family realized that they would not be able to lift and fold it into the car. So, we started…

A stem cell therapy improved the heart function, walking capacity and survival of mice with Duchenne muscular dystrophy, a study reports. The treatment involves what scientists call cardiosphere-derived cells, or CDCs. They are the research equivalent of the stem cell therapy known as CAP-1002 that Capricor Therapeutics is developing to treat…

The investigational treatment Raxone (idebenone) could become available to qualifying Duchenne muscular dystrophy (DMD) patients in the U.S. with respiratory decline following the start of an expanded access program (EAP), Clinigen and Santhera Pharmaceuticals announced. BreatheDMD is an EAP authorized by the U.S. Food and Drug Administration…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

PTC Therapeutics is recruiting Duchenne muscular dystrophy (DMD) patients ages 5 and older and with a nonsense mutation for a long-term Phase 3 study to characterize the effects of Translarna (ataluren) on disease progression. The trial (NCT03179631) opened in July 2017 and enrolling patients at eight sites across…

It’s inevitable that people will treat you different when you’re in a wheelchair, whether that works in your favor or against it. It’s nice when people open doors for you or offer to help you with something. But then there are the stares. Being in a wheelchair while also…

Measuring the physical strength of individual cells is now 100 times faster with a new device called FLECS developed by researchers at UCLA and Rutgers University. FLECS allows researchers to measure the strength of thousands of individual cells at a time and could make it easier for them…