At the American Academy of Neurology (AAN) annual meeting in Philadelphia, PA, we talked with Scott Schobel, MD, MSc, clinical science leader for Roche’s Huntington Disease Program about the recent clinical data they presented at the meeting.

Dr. Schobel said, “It is a very exciting time for Huntington’s disease as there has been the advent of RNA therapeutics that can target the proximal causes of this disease.”

Huntington disease is a neurodegenerative condition in which symptoms usually appear suddenly when a person is about 40 years of age. The genetic mutation responsible for the condition leads to cells in certain brain regions to die. As those neurons die, the physical, cognitive and emotional symptoms associated with the disease can devastate the person and their family. There are currently no treatments that target the pathophysiology of the disease, which is the over production of the Huntingtin protein that results from mutations in the Huntingtin gene.

Roche is currently developing RG6042, a RNA antisense drug, that can reduce the synthesis of the Huntington protein and thereby, reduce its toxic effects in the brain.

At the AAN meeting, Roche presented 9-month data from the on-going open label study involving RG6024 in people with Huntington’s disease. Dr. Schobel said, “Those results showed that RG6042 in both the Q4week arm and the Q8week arm, was well tolerated across the arms.”

The data also shows the drug is effective in lowering Huntingtin protein levels. Dr. Schobel stated, “We have the knowledge now that we consistently and sustainably lower the protein in CSF, which is right in line with our preclinical PK/PD model predictions.”

In addition to the open-label study, Roche is conducting a natural history study and a pivotal phase 3 clinical trial. The pivotal study, called the HD1 study (NCT03761849) is currently recruiting 660 individuals with Huntington’s disease at many locations throughout the United States and globally.