Wednesday, June 11, 2014


PALO ALTO, Calif. (KGO) -- For 9-year-old Kayla, a recent ride on a surfboard at a special program in Santa Cruz, was something of a miracle. Born with a neuromuscular condition called Myotonic Dystrophy, Kayla has struggled just to walk and develop normal muscle function. Her mom, Lisa Harvey says the fight began just moments after her birth.

"You know, they actually said you can choose to pull life support and I was devastated. And I said, 'We don't even know what this is, let's fight and see what we're dealing with first,'" Harvey remembers.

Kayla's progress is being tracked at a unique clinic at Stanford Hospital. It's set up to study and treat congenital diseases that may stretch back generations. In Kayla's case it's at least three generations, including her mom and grandma, Jane Harvey. Clinic director Dr. John Day says treating the family together allows researchers to better gauge the effectiveness of new therapies.

"If everybody is receiving a different treatment, then when we start to introduce a new treatment modality, it's not going to be clear if it's working," says Day.

Read more and watch the video

Monday, June 9, 2014

Clinical Trials for Myotonic Dystrophy Have Begun

ISIS Pharmaceuticals is developing a drug (ISIS-DMPKRx) to treat Myontonic Dystrophy Type 1 (DM1, also called Steinert’s Diseases). DM1 is a dominantly inherited, degenerative disorder that affects many systems in the body. DM1 is mainly characterized by progressive muscle wasting, weakness, and myotonia, but additional clinical features include early cataracts, cardiac conduction dysfunctions, hypersomnia, gastrointestinal abnormalities, insulin insensitivity, and infertility. DM1 is estimated to affect 1 in 8,000 people worldwide, or approximately 150,000 patients in the US, Europe and Japan. Currently, there are no disease-modifying therapies for patients with DM1 and treatments are intended only to manage symptoms. ISIS-DMPKRx is an antisense drug being developed for the potential treatment of DM1. ISIS-DMPKRx is currently being studied in a Phase 1 study in healthy volunteers to evaluate its safety. 

Learn more: print the trial fact sheet