Gene Therapy Slows Huntington’s Disease (HD) by 75%
- 24 sept
- 2 Min. de lectura
The medical community and families affected by Huntington's Disease (HD)—a cruel and devastating neurodegenerative condition that resembles a combination of dementia, Parkinson's, and motor neurone disease—have received spectacular news. Results from a three-year clinical trial have shown that the progression of HD, which is typically fatal within two decades, has slowed by 75% in treated patients.
UniQure’s experimental treatment, named AMT-130, is a type of gene therapy that combines gene therapy and gene silencing technologies. The goal is to permanently reduce the levels of the toxic mutant huntingtin (HTT) protein, which is responsible for the death of neurons. The data showed that disease progression, measured using a scale (cUHDRS) that combines motor function, cognition, and the ability to manage daily life, was drastically slowed.
The research team described the findings as "spectacular" and "breathtaking". The 75% slowing means that the decline normally expected in one year would be extended to four years after treatment, potentially offering patients decades of "good quality life".
The therapy, which involves delicate neurosurgery lasting 12 to 18 hours to infuse the treatment into the brain, was deemed safe and also indicated that it was saving brain cells. This was suggested because neurofilament levels in the spinal fluid—a clear sign that brain cells are dying—were lower than expected.
While the AMT-130 is anticipated to be expensive and complex, these results represent a "moment of real hope" and the possibility that the treatment, which is expected to last for life, could prevent the onset of symptoms if administered early. UniQure plans to apply for licensure in the US in the first quarter of 2026.
While the world celebrates the genetic advance, another important clinical trial for HD is taking place. The first Huntington’s Disease patient has been dosed with SKY-0515, an experimental oral therapy developed by Skyhawk Therapeutics.
This trial, called FALCON-HD (NCT06873334), is a Phase 2/3 study that seeks to evaluate the safety, pharmacodynamics (effects on the body), and efficacy of the therapy in up to 120 adults with HD. The study is currently recruiting participants in Australia and New Zealand.
SKY-0515 is an oral small molecule designed to reduce the production of two key proteins: HTT and PMS1. By lowering both, the therapy is expected to prevent the somatic expansion of the CAG repeat and, consequently, slow or halt disease progression. Professor Ed Wild noted that SKY-0515’s unique ability to reduce both HTT and PMS1 could "meaningfully enhance therapeutic impact" beyond that achieved by reducing HTT alone.
Data from the prior Phase 1 trial showed that SKY-0515 reduced HTT by up to 72% in a dose-dependent manner, demonstrating favorable safety and tolerability. HD research leaders, such as Professor Ed Wild, look forward to the worldwide expansion of the FALCON-HD trial.
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