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 June 2023 showing early signs of a potential clinical benefit of AMT-130 and supportive trends in neurofilament light chain (NfL), a key marker of neuronal damage. AMT-130 continues to be generally well-tolerated with a manageable safety profile at both doses being tested. Importantly, both doses show preliminary evidence of clinical and functional benefits, including favorable trends in Total Motor Score, Total Functional Capacity and the composite Unified Huntington’s Disease Rating Scale compared to natural history. 

Patients treated with either dose of AMT-130 appear to have largely preserved function and are trending favorably to natural disease course at up to 24 months. We believe these interim results provide early hope for patients suffering from this devastating disease.

A Commitment to Patient Safety

We had announced in August 2022 that patient enrollment at the higher dose in the European trial had been voluntarily paused following the reporting of suspected unexpected significant adverse reactions (SUSARs) in three patients shortly after they received the higher dose of AMT-130. The SUSAR events in all three patients have since fully resolved. In October 2022, the DSMB reviewed all available safety, biomarker and imaging data from the ongoing Phase I/II clinical trials of AMT-130 and recommended resuming treatment at the higher dose. (Read more.)

We look forward to finishing patient enrollment in the higher-dose cohort of the European study in the first half of 2023 and plan to announce data from the U.S. Phase I/II study in the second quarter of 2023.

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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