Technology Has Potential to Halt Production of Mutated Protein in Huntington's Disease and Spinocerebellar Ataxia

Early data supports a potential therapy for neurodegenerative diseases such as Huntington’s disease (HD) and spinocerebellar ataxia (SCA) that are caused by trinucleotide repeats. 

The treatment is a technology platform (Dystrogen Therapeutics Corporation, Chicago, IL) based on RNA interference (RNAi). The platform focuses on a different stage of silencing than existing therapies, preferentially silencing the expression of a mutant variant of the gene responsible for cytosine-adenine-guanine (CAG) repeats. 

The data confirms that the therapy can selectively silence only the mutated HD protein, leaving the healthy HD protein undisturbed. The platform is designed to be a genetic tool that can silence expression of the abnormal part of the gene that contains the expanded CAG repeats in HD, SCA and 8 other genetic diseases.

Researchers hope to observe a significant delay in neurodegenerative symptoms. “These findings are potentially significant for the treatment of Huntington’s disease and SCA patients, and the ability to selectively silence CAG transcripts in the nucleus may prove to be critical for therapeutic efficacy of gene therapies for these diseases,” said Kris Siemionow, MD, PhD, chief executive officer at Dystrogen. “Taken together, these findings further support the feasibility of advancing this program through research and into development of a promising gene therapy with the potential to alleviate the toxicity caused by the mutated CAG in HD and SCA.”