A Patient’s Perspective on uniQure’s Gene Therapy for Huntington’s
As many of you have seen by now, there’s been a lot of buzz about the recent uniQure gene therapy news for Huntington’s Disease (HD), which was shared on September 24. On this day, uniQure announced the topline results from their Phase 1/2 study:
Met the primary endpoint measured by the composite Unified Huntington’s Disease Rating Scale (cUHDRS), showing statistically significant 75% disease slowing at 36 months.
The cUHDRS measures function, cognition, and motor through different assessments.
Met their key secondary endpoint, Total Functional Capacity (TFC) in their high-dose group.
NfL levels were 8% below baseline, where they typically increase in HD patients
The investigational gene therapy continued to be generally safe and well-tolerated
I first learned about HD over 18 years ago when I was in high school, and it’s shaped my life ever since. I lost my mom to the disease 10 years ago, and today, at 34, I have friends who are living with symptoms or who we’ve already lost.
I’ve heard people say “a treatment is just around the corner.” Now that it finally feels closer, I’m still managing my expectations.
I’m not a scientist or researcher, but through both personal experience and my professional work in the biopharmaceutical industry, I’ve learned a lot about drug development and how the process works.
First and foremost, we need to celebrate this exciting news! Gene therapy is incredibly complex, and safety is always the top priority. Beyond safety, these topline results do show positive signs, including meeting the primary and secondary endpoints. Additionally, any study with data that trends in the right direction helps push research forward. These findings showed that HD can be modified.
At the same time, I believe the HD community needs to remain cautiously optimistic. One clinical trial doesn’t represent an entire population and with the small sample size, we’ll need to see more data at upcoming scientific and patient conferences. It’s also important to remember that early-phase studies (like this Phase 1/2) can sometimes look promising, but later trials with larger groups don’t always show the same level of effectiveness.
This reminds me of the Roche news from 2021, which was hyped up before being discontinued due to safety concerns (though they are running another study based on what they learned). The key difference here is that uniQure’s therapy hasn’t raised any safety issues so far and has met its primary and secondary endpoints.
I’ve received a lot of messages from people about the news, and it’s been encouraging to see the awareness this has generated. Coverage reached BBC, STAT, CNN, Good News Movement, and many other outlets.
But, this is just a stepping stone, not the finish line. The gene therapy is not yet approved and is currently not available to patients. Approval itself will be an uphill battle, and even after that, the next challenge will be ensuring patients get access to the treatment.
A top of mind question I’ve heard from the community is: what will this cost? Some people quickly assumed this will cost patients $2 million. In reality, we don’t know what the final price will be, though it will likely be similar to other gene therapies. Importantly, the “list price” is not the amount patients pay.
For example, a gene therapy for SMA called Zolgensma has a list price of $2.1 million. But patients with commercial insurance or Medicaid typically have most of it covered. Pharma and biotech companies also create patient assistance programs for those who can’t afford treatment. No company develops a therapy that patients literally cannot access.
Although this is not a cure, it may slow down disease progression until other treatments come along. I’m a big believer in combination therapies that can help slow down the disease even further. This could mean combining gene therapy with other approaches, like oral pills, spinal injections, or IV infusions; all strategies being tested in other clinical trials.
Patient advocacy organizations will play an important role over the next few years and need to be treated as partners. In my opinion, they should be included before big announcements so they can help prepare the community such as putting together FAQs to address the most common questions. If you’re unsure where to connect, feel free to reach out and I can point you toward patient advocacy organizations that could be a good resource.
I’m rooting for uniQure to bring this across the finish line. As a former manager and mentor has taught me, we need to keep our eyes on the prize, which in this case is approval and access to a treatment that will help patients with their quality of life.
