University of South Florida Participates in Phase III Clinical Trial Targeting Huntington’s Disease

Sep 4, 2019 | CNS, Genetic Disease, Huntington's Disease, Neurology, Uncategorized

University of South Florida Participates in Phase III Clinical Trial Targeting Huntington’s Disease

University of South Florida (USF) is conducting a Phase III clinical trial for a drug that targets the genetic cause of Huntington’s disease (HD) which some describe as a mix of Parkinson’s disease, Lou Gehrig’s Disease, and Alzheimer’s. A USF neurologist, Dr. Juan Sanchez-Ramos, is interviewed about this hereditary disease and the fact that after 25 years of research, we have no treatment to even slow this disease down. One promising clinical trial centers on RG6042, which has been touted as “the most advanced HD therapy in development.”

WJCT News reports on the Phase III clinical trials targeting the hereditary Huntingdon’s disease. Health News Florida Daylina Miller interviewed USF’s neurologist Dr. Juan Sanchez-Ramos about the disease.

What is RG6042?

RG6042 is an investigational antisense oligonucleotide treatment designed to target and destroy all forms of mHTT (abnormal protein associated with Huntington’s Disease). Besides CAG repeats, RG6042 is also intended to target single nucleotide polymorphisms (SNPs)—variations in a single nucleotide—observed in patients with Huntington’s. But by knocking down wild-type or normal HTT, RG6042 could have safety limitations as the normal Huntington protein has key functions, such as neuronal survival and function of mitochondria—the cell’s power plants.

As reported in Huntington Disease News, the results of a Phase 1/2 trial lowered the levels of mHTT in the cerebral spinal fluid by up to 60%. This delta corresponds to a 55% to 85% reduction of mHTT in the cortex, the outermost layer of the brain, and 20% to 50% in the caudate, a deeper region.

Ionis Pharmaceuticals is the developer of the promising investigational drug.


The GENERATION HD1 study is sponsored by Roche, based on the partnership with Ionis (formally Isis Pharmaceuticals) back in 2013. The study will help determine whether RG6042 delays Huntington Disease progression. A Phase III interventional, randomized study with over 800 actual participants, its official title is “A Randomized, Multicenter, Double-Blind, Placebo Controlled, Phase III Clinical Study to Evaluate the Efficacy and Safety of Intrathecally Administered RO7234292 (RG6042) in Patients with Manifest Huntington’s Disease.” The clinical trial commenced January 2019 and will run through August 2022.

RG6042 is being administered to 120 patients in the U.S. and about 850 worldwide. In animal models, RG6402 has stopped progression of Huntington’s Disease—this Phase III trial could prove the same in humans. The drug stops the expression of the mutant gene (and the buildup of abnormal protein) associated with Huntington’s Disease. The downside to this “gene-silencing” treatment is that it must be administered through a spinal tap or directly into the brain. It must be delivered directly into the lower back every two months. This is a complicated and not comfortable procedure. Of the total 120 patients in the U.S., each site operates with limits on number of patients—Tampa, FL-based USF could only recruit 8 to 10 patients.

Lead Research/Investigator University of South Florida Site

Dr. Juan Sanchez-Ramos 

Call to Action: Do you or a loved one have a Huntington’s Disease diagnosis? It makes sense to track the progress of this Roche-sponsored clinical trial. If possible, see a clinical investigator focusing on the most advanced investigational therapies to learn what clinical trial options are available. Need help? TrialSite’s Network matching service can help.


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