Gene Therapy for HD Gets FDA Orphan Designation

James Radke

uniQure N.V., the company that developed the first-ever approved gene therapy (for familial chylomicronemia syndrome), announced that the U.S. Food and Drug Administration (FDA) has now granted an Orphan Drug Designation for its gene therapy AMT-130, intended to treat patients with Huntington’s disease (HD).

AMT-130 has a AAV5 vector carrying an artificial micro-RNA designed to silence the mutant huntingtin gene, which is present in HD patients and inhibits the production of the mutant huntingin protein.

HD is a genetic, neurodegenerative disorder that leads to loss of muscle coordination, behavioral abnormalities and cognitive decline. It usually begins to present when a person enters his or her 3rd or 4th decade.
Currently, treatment options for HD patients are limited to relief from symptoms, but they do not delay the onset or slow the progression of the disease. It is widely believed that gene therapy has the potential to stop the disease.
In April of this year, data was presented at the 12th Annual CHDI HD Therapeutics Conference in Malta showing that AMT-130 was able to silence the human mutant huntingtin gene in pig model.
In that study, the drug was administered into the striatum and thalamus of minipigs that had the mutant Huntingtin gene. Three months after treatment, the vector was observed throughout the minipig brain and expression of mutant HTT mRNA was significantly reduced.
Lead author of that study, Prof. Jan Motlik, Director of the Institute of Animal Physiology and Genetics in the Czech Republic said: "This study demonstrated that a single administration of AAV5-miHTT resulted in significant reductions in HTT mRNA in all regions of the brain transduced by AMT-130, as well as in the cortex. Consistent with the reduction in HTT mRNA, we also observed a clear dose-dependent reduction in mutant huntingtin protein levels in the brain, with similar trends in the cerebral spinal fluid."

Clinical trials in humans are expected to begin in 2018.

Per uniQure: "Attaining orphan designation recognizes the potential that AMT-130 holds in delivering meaningful therapeutic benefit to patients suffering from this devastating disease,” said Matthew Kapusta, chief executive officer of uniQure. “It supports our ongoing development in Huntington’s as we seek to bring the first gene therapy approach to this disease into the clinic next year.”

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