Scott Schobel, MD, MSc is the clinical science leader for Roche’s Huntington Disease Program. In this video, he provides an overview of the disease including research being conducted at Roche.
Dr. Schobel said, “Huntington’s disease is a relentless neurodegenerative disease caused by a single genetic mutation and this results in a progression of cognitive and motor decline, as well as a loss of overall functional abilities. It typically strikes individuals in the prime of their life when they’re around 40 to 45 years old.”
“It typically occurs in an individual who has a family (i.e., children) so it’s also a family disease.”
“Presently, there are no therapies that exist to halt or slow this relentless clinical progression which usually results in profound disability and death in the majority of individuals, 8 to 22 years post onset of symptoms.”
“There is a prodromal phase in Huntington’s disease, where individuals have cognitive and motor features that are subtle and beneath the threshold of clinical diagnosis. That period lasts approximately 10 or greater years, so individuals can indeed present to clinics with these subtle symptoms. But, unless and there’s a family history it can actually take a physician some time to arrive at a diagnosis of Huntington’s disease, which is based upon a genetic test.”
Currently, Roche is developing a treatment for Huntington’s disease (RG6042), in partnership with Ionis Pharmaceuticals. It is an antisense drug that is being investigated in a phase 3 clinical trial. In theory, the drug should stop the synthesis of Huntingtin protein and therapy specifically targets the root cause of the condition.