Huntington’s Disease

Hero huntingtons patients

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 12-month clinical update that we provided in June 2022 on the first patients enrolled in the lower-dose cohort of the U.S. study. These data showed AMT-130 to be generally well tolerated with no treatment-related serious adverse events reported, along with lowering of mutant huntingtin protein levels in patients who received AMT-130 that is suggestive of meaningful target engagement. 

In August 2022, we announced that there have been three suspected unexpected serious adverse reactions, or SUSARs, in the higher-dose cohorts of our clinical trials of AMT-130. Importantly, these three patients are no longer hospitalized and have since fully or substantially recovered.

A Commitment to Patient Safety

Patient safety has always been and will remain our top priority. We and the independent Data Safety Monitoring Board (DSMB) of the ongoing Phase I‑II clinical trials of AMT-130 believe it is prudent to delay the dosing of additional patients with the higher dose of AMT-130 until we complete our investigation and put a patient monitoring and risk mitigation plan in place.

It’s important to note that the delay does not apply to any future administration of the low dose of AMT-130. Thus far, no significant adverse events related to AMT-130 have been reported by any of the 12 patients treated with the lower dose, who have now been followed for up to two years.

We expect to share an update on our safety investigation and Data Safety Monitoring Board review early in the fourth quarter of 2022, and will provide an update in the second quarter of 2023 on the 26 trial participants across both the low and higher dose cohorts that are currently enrolled in our U.S. trial.

We continue to believe that gene therapy is a promising approach to treating Huntington’s disease and we look forward to ongoing collaboration with the HD community to pursue development of AMT-130.


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
uniQure Logo Twitter Icon LinkedIn Icon YouTube Icon Twitter Icon Arrow Slideshow Next Button