Rare Disease Report

Gene Therapy for HD Continues to Show Promise

OCTOBER 18, 2017
James Radke
At the European Society of Gene and Cell Therapy (ESGCT) Congress in Berlin, Germany today, uniQure – the company that developed the first ever approved gene therapy (for familial chylomicronemia syndrome) – presented new preclinical data showing the effectiveness of its new gene therapy in development, AMT-130, for the treatment of Huntington’s disease (HD).

HD is a neurodegenerative genetic disorder due to a cytosine-adenine-guanine (CAG) expansion, in the huntingtin gene. The disease is characterized by a combination of motor, cognitive and psychiatric problems that usually present in a person’s 30s or 40s and is progressive. Current treatment options are limited to relieving symptoms but there is no treatment to prevent or attenuate the disease’s progression.

Using the R6/2 mouse model of Huntington’s disease, the administration of AMT-130 into the mouse striatum led to significant improvements in motor symptoms and survival. The data showed the mice given AMT-130 had a median survival of 149 days compared to 120 days in the HD mice who did not get a striatal infusion of the gene therapy.

The study also observed that the gene therapy did alter the biochemistry of the brain with a significant reduction in the expression of mutant huntingtin protein.

These results compliment earlier studies showing AMT-130 to be effective in other HD animal models, including the Q175 mouse and minipigs.

AMT-130 comprises an AAV5 vector carrying a DNA cassette encoding an engineered micro RNA (miHTT) that silences the human huntingtin protein. 

Per uniQure: “We are confident that the combination of suppression of neuronal dysfunction, improvement of Huntington’s disease symptoms, extended survival and long-term huntingtin lowering observed in these studies, could translate into patient benefit and improve their quality of life,” stated Sander van Deventer, M.D., Ph.D., chief scientific officer at uniQure. “We have now begun our investigational new drug-enabling toxicology studies in rodents and non-human primates that will support an IND application for AMT-130 next year.”

Image courtesy Wikimedia commons.

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