The Long-Awaited Three-Year Study Results on Huntington’s Disease AMT-130, uniQure’s gene therapy, would be the first genetic treatment for Huntington’s disease, if approved. The observed slowing of disease progression is estimated at 75%. A BLA submission is planned for the first quarter of 2026.
uniQure is preparing to introduce the first gene therapy for Huntington’s disease, as three-year data from a pivotal Phase I/II trial of its gene therapy showed a 75% slowing in the progression of the incurable neurodegenerative disease, surpassing expectations.
A single high dose of AMT-130 slowed disease progression as measured by the composite Unified Huntington’s Disease Rating Scale (cUHDRS) compared to an external control group, reaching statistical significance and achieving the study’s primary endpoint, according to uniQure. It also achieved a key secondary endpoint, significantly slowing disease progression as measured by Total Functional Capacity (TFC) compared to the control group. The trial evaluated 12 patients receiving a high dose of the gene therapy and 12 receiving a low dose over a 36-month period. Patients who received the high dose of AMT-130 showed a mean change from baseline in the cUHDRS — which measures Huntington’s disease progression — of -0.38, compared to the control group, which showed a -1.52 change.
Additionally, levels of neurofilament light chain (NfL) — a key marker of neurodegeneration — were reported to be “well below baseline,” according to uniQure. Increased NfL levels in cerebrospinal fluid have been shown to be “strongly associated” with greater clinical severity of Huntington’s disease. Lastly, AMT-130 was “well tolerated” with a “manageable safety profile,” the company noted.
uniQure plans to submit a BLA for AMT-130 in the first quarter of 2026, with a potential U.S. launch later that year, pending approval.
This past June, uniQure announced that it had “reached alignment with the FDA on several key components” of the statistical analysis plan and the chemistry, manufacturing, and controls (CMC) information that will support the BLA submission through the accelerated approval pathway.
The announcement from uniQure brings welcome news to the Huntington’s research field, which has faced a wave of disappointments over the last five years. Companies such as Roche, Wave Life Sciences, and Sage Therapeutics have halted the development of their candidate treatments — though Wave has returned with a next-generation anti-sense oligonucleotide, which showed positive results in a mid-stage study last year. PTC Therapeutics, meanwhile, announced a mid-stage success for its small molecule PTC518 this past May.