Huntington’s Disease

Hero huntingtons patients

A promising gene therapy for a rare and devastating disease.

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 HD. The striatum is a core structure of the brain that is first affected in people with Huntington’s disease. 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 is developing AMT-130, a gene therapy for Huntington’s disease (HD) that is intended to silence the huntingtin gene, with the goal of inhibiting the production of the mutant protein. We are very encouraged by the significant reductions in mutant huntingtin protein that we have seen in our preclinical studies. You can read more about uniQure’s gene therapy approach to Huntington’s disease in this brochure.

Read more about AMT-130 and why we believe it has the potential to alter the course of this disease.

uniQure’s HD clinical trials

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

Patient safety has always been and will remain our top priority. We and the independent Data Safety Monitoring Board (DSMB) believe it is prudent to delay the dosing of additional patients with the higher dose 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 this year. In the U.S. study, all 26 patients in the first two dose cohorts have been enrolled, and we expect to present one to two-year follow up data in the second quarter of 2023. In the European study, the six-patient lower-dose cohort is fully enrolled and we expect to present one-year follow-up data in 2023.

We are deeply appreciative of the support we’ve received from the community. We continue to believe that gene therapy is a promising approach to treating Huntington’s disease and we look forward to working with the HD community to develop AMT-130.

Additional Resources
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