AMT-130, the uniQure gene therapy that successfully slowed the progression of Huntington’s disease before being obstructed from approval by the U.S. Food and Drug Administration (FDA), stands at the forefront of the leading HD research conference that starts today, February 23, in Palm Springs, CA.
The 21st Annual Huntington’s Disease Therapeutics Conference, which I have described as the Super Bowl of HD research, takes place at the Parker hotel. It is sponsored by CHDI Foundation, Inc., the largest private funder of HD research.
“In recent years HD drug discovery has become increasingly anchored in strong human genetic and clinical evidence, allowing us to focus on mechanisms most likely to yield disease-modifying benefit,” wrote Robert Pacifici, Ph.D., the CHDI chief scientific officer, in his welcome letter to the conference attendees. “Few developments capture this momentum more clearly than the recent topline results announced by uniQure from the pivotal Phase I/II study of AMT-130 suggesting that lowering [decreasing] mutant huntingtin in people confers a real clinical benefit, an important proof of biological principle.”
Dr. Pacific did not refer to the FDA roadblock but asserted that the AMT-130 “findings represent an encouraging milestone for the HD community.”
For its clinical trial analysis uniQure has relied on the CHDI-backed Enroll-HD, the global registry of HD-affected individuals and their families. uniQure has presented its data at the therapeutics conferences.
Dr. Robert Pacifici, wearing a Team Hope shirt from the Huntington's Disease Society of America, overseeing the 2025 Therapeutics Conference (photo by Gene Veritas, aka Kenneth P. Serbin)
AMT-130 talk in the lead-off
Dr. Pacifici and the conference planners scheduled a report on AMT-130 as the first presentation at the start of the opening science session on February 24.
David Margolin, M.D., Ph.D., uniQure’s vice president for clinical development, will give a talk titled “AMT-130 slows Huntington's disease progression at 3 years: Propensity score weighting mitigates potential bias from striatal volume absence in Enroll-HD.”
Because AMT-130 has been administered via a spinal injection that involves 12-plus hours of surgery, uniQure had no placebo group – those not getting an operation –but instead chose to use data from Enroll-HD as a comparison group.
After extensive consultations with the FDA in 2024, uniQure had gotten permission from the agency to use the Enroll-HD data. In November 2025, the FDA told uniQure that Enroll-HD data might no longer be “adequate.”
The HD community mobilized immediately, garnering 48,000-plus signatures on two petitions delivered to FDA headquarters on January 22.
The abstract of Dr. Margolin’s presentation does not reference the FDA but states that the Enroll-HD data about loss of striatal volume (shrinkage in the striatum, located deep in the brain and severely affected in HD) was helpful in the analysis of the clinical trial data. He reasserted the importance of MRI measurements of such brain loss.
Awaiting news about the FDA
uniQure announced on January 9 that it had scheduled a high-priority meeting with the FDA, which according to regulations had to occur within 30 days. The FDA must produce final minutes of the meeting.
As of this writing, uniQure has not reported on the results of the meeting.
At the conference, the several hundred scientists, biopharma reps, and advocates like me will anxiously await the latest news on AMT-130.
Stay tuned for my reports on the event.
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