We’re getting closer to achieving our biggest advocacy goal to date
Our family is committed to getting FDA approval of the gene therapy Upstaza
My wife, Judy, and I have attended webinars, conferences, and other events to share our perspective on our daughter’s experience with aromatic l-amino acid decarboxylase (AADC) deficiency. We have written letters, articles, and books advocating for research and treatment. Now, achieving our greatest goal is on the horizon.
When Judy and I finally discovered the mystery ailment afflicting our daughter, Rylae-Ann, through a random Facebook post, we searched for ways to help her. At the time, few resources were available for such a rare neurotransmitter disorder. We tried to adapt what we knew as educators and what we could learn from other diseases and disorders that shared similar symptoms. There were also helpful organizations such as Ronald McDonald House that made our lives as caregivers easier. Still, we identified a gap in parents receiving essential educational support for their children.
The first significant step I took in making a difference in the community was becoming a weekly columnist for Bionews, the publisher of AADC News. It was challenging to take my first step toward publicizing our family’s struggle, which we had been so private about previously. At that point, only a select few close family members even had an inkling of what we were going through.
Clinical trial
Rylae-Ann Poulin’s parents advocate for gene therapy approval so that other families may benefit from similar results. (Photo by Richard E. Poulin III)
Fortunately, when our daughter was 18 months old, we enrolled her in a clinical trial for gene therapy, then known as PTC-AADC. The results have been nothing short of miraculous. However, due to the rarity of AADC deficiency and our being so hyperfocused on caring for Rylae-Ann, we didn’t even know that many other families were praying and hoping for a spot.
In 2018, not much was known about the results of gene therapy for AADC deficiency; all parents knew was that this was the only possible way we could prevent our children from succumbing to the dire consequences of the disease. Since then, we have supported families enrolling in clinical trials and postoperative care. We continue to share our daughter’s data to further research and help families still waiting for a clinical trial spot or a treatment.
Europe, UK approvals
Judy and I continued to grow as advocates for the AADC deficiency and rare disease communities. The more we shared, the more we realized how doing so could affect families. We then realized that to make a more significant change that extended into the future, we also needed to focus on government and regulatory bodies.
We were honored to share our story with the European Medicines Agency and play a small part in making PTC-AADC, now Upstaza (eladocagene exuparvovec), available. In July 2022, the European Commission approved Upstaza to treat AADC deficiency in patients ages 18 months and older. The approval covered all 27 member states of the European Union, as well as Iceland, Liechtenstein, and Norway.
After our work to get approval in Europe, Judy and I focused on the U.K. In November 2022, Upstaza was approved there to treat the same population. In addition to this approval, England’s National Institute for Health and Care Excellence recommended that Upstaza be made available to AADC patients at little to no cost!
FDA approval
Rylae-Ann Poulin poses for a photo in Germany, where her parents traveled to share their perspective on gene therapy. (Photo by Richard E. Poulin III)
Last month, PTC Therapeutics submitted a biologics license application to the U.S. Food and Drug Administration (FDA) seeking the approval of Upstaza. Now, our goal is to contribute and advocate for the approval of this gene therapy in the United States. We have previously attended FDA webinars and open forums to share our experience, but these regulatory approval meetings will be the most important.
To me, this approval matters the most. The United States is my home, but I also believe the FDA is a global leader in healthcare. The agency has acknowledged the barriers to rare disease treatment, and this approval will mark its commitment to delivering “meaningful advances for rare disease patients.”
We hope the approval is announced this year, allowing us to finally achieve our greatest goal yet on our journey of beautiful destinations.
Note: AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of AADC News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to aromatic l-amino acid decarboxylase deficiency.
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