Our Story: Families in Need

My name is Katie Jackson, and I’m an HD family member. Together, along with several partnering organizations who represent the thousands of people impacted by Huntington's Disease in the United States, we are urging for your immediate support. 

Huntington’s Disease (HD) is a fatal, genetic neurological illness that causes the progressive breakdown of nerve cells in the brain. This causes physical, cognitive, and psychiatric deterioration that results in a continuous loss of independence function until death.

My husband was diagnosed with Huntington’s Disease at just 24 years old. After a long, 14-year battle, he passed away six years ago. I have children who are at risk. For nearly 20 years, I have been an advocate for the Huntington’s Disease community, and what I’ve learned is my story is one of many from across the nation who are championing that time is both precious and a source of constant fear.

Once you are diagnosed with symptoms or test positive for the gene, a clock starts ticking. You are waiting for the symptoms to start, knowing that you will slowly lose every bit of your quality of life and then die. As a family member, you live in a state of fear and grief with every new symptom that appears. Huntington's brings a life defined by this fear—a fear that lies predominantly in the fact that no one can do anything to help. You must stand by and watch the disease take everything from your loved one, with nothing you or anyone else can do to stop it.

And the devastation doesn’t stop there. You live with the ever-evolving anticipatory grief of knowing the next generation may endure the same fate. That is why HD is truly a family disease. The depression, isolation, anxiety, and grief it puts on the person living with HD are mirrored in the caregiver and the entire family. We see generational trauma in a way that is hard to comprehend. We see young people and children, often who are at-risk themselves, serving as 24-hour caregivers for a parent causing a steep role reversal, knowing the disease may hit them even younger. They lose time to build their own lives and make their own memories because they are consumed by caregiving. Sometimes, their own symptoms begin almost as soon as their loved one’s battle ends.

You might ask, "what amount of time slowing down the progression is meaningful?" Our answer in the community is any amount of time. Our lives are defined by moments. Think about how many moments we create in just one year. A slowing of progression means people can work longer, drive longer, and share more holidays with their families. It means more time before the person living with HD feels like they are a burden on the ones they love the most. Any amount of time is meaningful when you think about how much life they could live by slowing the disease down.

This brings me to my children. As a mother, the single most terrifying thing is that I cannot protect them from this fatal disease. My daughter, like many other young people, is getting ready to start the process of testing for the HD gene. If she tests positive, this disease will have defined her entire life since she was four years old after her dad was diagnosed. A new therapy could give her more time where HD does not define her; not to sway her career, her aspirations, her hope, or her ability to dream.

Huntington’s does not rob you of parts of your life; it robs you of your whole life, generation after generation. We know we are the generation of change. We know it may not be perfect, but we know it's the start of advancement. We are also the generation that knows something is finally here, but we don't know if it may not be in time for some of us, and that doesn’t take away the pain for our loved ones we’ve already lost.

The community is devastated because of the recent published news about the FDA delaying a lifeline for individuals living with Huntington's disease by hesitating to allow uniQure to file a Biologics License Application (BLA) for accelerated approval for their promising AMT-130 gene therapy. This treatment could slow the fatal progression of the disease. We urge the FDA to honor its prior guidance and expedite review. For the Huntington's community, who live without hope and are running out of time, every minute counts.

Background: A Glimmer of Hope

For years, the HD community has had no viable treatment options. That is, until now. The gene therapy AMT-130, developed by uniQure, has shown significant promise in slowing disease progression. The FDA itself has acknowledged this potential, granting AMT-130 both Regenerative Medicine Advanced Therapy (RMAT) and Breakthrough Therapy designations in 2024 and 2025. These are reserved for drugs that may demonstrate substantial improvement over available therapy for serious conditions.

The FDA and uniQure had previously agreed on an accelerated approval pathway—a process designed specifically for devastating diseases like HD. This pathway allows for earlier approval based on data that reasonably predicts a clinical benefit, with the understanding that more data will be collected after approval.

The Present Crisis: A Promise in Peril

The FDA is now wavering on its commitment. They are reconsidering the use of a "natural history" group as a control for the study—a scientifically valid and widely accepted method for rare diseases where using a placebo is unethical. This method has strong precedents and is supported by massive studies like Enroll-HD, which have collected data from over 30,000 people to map the natural progression of this disease.

The FDA’s reluctance to uphold past discussions presents significant challenges that we cannot ignore. This not only jeopardizes the viability of AMT-130 but also risks discouraging pharmaceutical companies from investing in American healthcare, especially when we desperately need innovation. This is not merely a bureaucratic delay; it’s a direct threat to the lives and hopes of thousands of patients and their families.

Our Requests & Recommendations

We need your support to take immediate action. The time for waiting is over.

Recommendations for the FDA:

• Honor Your Previous Guidance: Fully uphold the previously agreed-upon accelerated approval pathway for AMT-130, including the use of external control data from natural history studies.
• Recognize the Urgency: Acknowledge the dire, unmet medical need in the HD community and act with the expediency that Breakthrough Therapy and RMAT designations demand.
• Expedite Review: Make the review and approval of AMT-130, and any other future HD therapies, a top priority to get this potentially life-altering therapy to patients without further delay.

Call to Action for the HD Community:

• Sign and Share: Adding your name on this petition adds power to our collective voice. Share it with your family, friends, and support networks.
• Contact Your Representatives: Tell your story and ask  them to hold the FDA accountable.
• Amplify Your Voice: Use social media to share why this therapy is so critical.

Call to Action for the General Public:

• Show Your Support: Sign this petition to stand in solidarity with the tens of thousands of families affected by Huntington's Disease.
• Educate Yourself: Learn about the devastating impact of HD and understand why accelerated access to treatment is so critical.
• Spread the Word: Share this cause. You have the power to help us move mountains.

We cannot allow procedural hesitation to become a death sentence. Sign now!