Huntington’s Disease

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A promising gene therapy for a rare and devastating disease.

Huntington’s Disease

We at uniQure are fully committed to the clinical development of AMT-130, the first AAV gene therapy to begin clinical development in Huntington’s disease. We are deeply appreciative of the support that we’ve received from the community and for the pioneering individuals who have volunteered to be a part of our clinical studies. Only through such collaboration can we develop safe and effective treatments to modify the course of Huntington’s disease.

Huntington’s disease (HD) is a rare, fatal, neurodegenerative genetic condition that affects motor function and leads to behavioral symptoms and cognitive decline in adults, resulting in total physical and mental deterioration over a 12 to 15-year period. Huntington’s disease affects approximately 70,000 people in the U.S. and Europe.

Huntington’s disease (HD) is an inherited condition that causes the progressive breakdown of brain cells. Buildup of mutant huntingtin protein is thought to cause the disease. The striatum is a core structure of the brain that is first affected in people with Huntington’s. This structure is critical for motor function and reward- and goal-oriented behavior. Loss of brain cells in the striatum leads to the following problems:

  • Motor function issues
  • Cognitive dysfunction
  • Psychiatric disturbances

Despite the discovery of the gene that causes HD, there are no therapies available to treat the disease, delay onset, or slow progression of a patient’s decline.

uniQure’s clinical trials in Huntington’s disease

AMT-130 is an investigative gene therapy for Huntington’s disease that is intended to silence the huntingtin gene, with the goal of inhibiting the production of the mutant protein. 

We are currently conducting Phase I‑II clinical trials of AMT-130 in the U.S. and Europe (Learn more).

We are encouraged by the significant reductions in mutant huntingtin protein that we observed in our preclinical studies across multiple animal models. We also are very encouraged by the promising interim update that we provided in December 2023 (Read press release) showing disease stability in Huntington’s disease patients treated with this one-time administered gene therapy, several of whom have now been followed more than two years. We are observing favorable trends in evaluation of motor skills, functional independence, and composite rating scores as compared to a non-concurrent criteria-matched natural history cohort. We also are pleased to observe further declines in levels of NfL, a measurement of neuronal degradation and disease progression, with low-dose patients below baseline at 30 months of follow-up and high-dose patients near baseline at 18 months. 

Importantly, AMT-130 continues to be generally well-tolerated with a manageable safety profile at both its low and high doses. 

In June 2024, the FDA granted Regenerative Medicine Advanced Therapy (RMAT) designation for AMT-130 based on the potential of AMT-130 to address the major unmet medical need among patients with Huntington’s disease. A regenerative medicine therapy can be eligible for RMAT designation if it is intended to treat, modify, reverse or cure a serious condition, and if preliminary clinical evidence indicates that the drug has the potential to address unmet medical needs for such a condition. RMAT designation allows for increased collaboration with the FDA to accelerate development, potentially facilitating earlier access for patients with life-threatening medical conditions. AMT-130 is the first therapeutic candidate to receive RMAT Designation for Huntington’s disease.

We believe that AMT-130 has the potential to provide a positive impact for patients with this devastating disease for which there is no currently approved treatment. Read more about AMT-130 and why we believe it has the potential to alter the course of this disease.

You can read more about uniQure’s gene therapy approach to Huntington’s disease in this brochure.

Additional Resources
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