Imagine having two daughters who both have a rare disease and watching them struggle — to be understood, to remember things, to learn, to be comfortable in social settings, to follow one-step directions, to be able to bond with friends and family.
Now, imagine a clinical trial showed promise for your older daughter. You notice a remarkable difference in her daily living, and suddenly, your home is more peaceful, and she is starting to thrive. The treatment is potentially life-changing. You now have hope for your older daughter and her younger sister.
But then, the medicine is potentially at risk of not even being reviewed by the U.S. Food and Drug Administration (FDA), let alone approved. As a parent, what would you do? What would you say to the FDA?
This is my family’s story with galactosemia, a genetic disease that can be life-threatening for newborns and causes severe, lifelong complications. Galactosemia is an inherited disorder caused by the inability to break down a simple sugar in our diets and bodies called galactose, due to an error in the metabolism. When galactose isn’t broken down, it causes a buildup of toxins that can lead to long-term complications, such as cognitive and developmental delay, memory issues, speech delays, behavioral challenges such as sensory processing disorder, learning disorders, tremors and seizures, and more. There are currently no treatment options approved for galactosemia, and until there are, I will continue to fight for my daughters, five-year-old Ansell and one-year-old Louise.
Galactosemia is an exhausting and devastating reality. It affects our entire family. Our voices, and the voices of all patients, parents and caregivers of a person living with galactosemia, need to be heard in the FDA’s decision to approve or deny this treatment — a treatment that has changed my daughters’ lives in every aspect measured by the trial.
The pediatric trial for govorestat (AT-007) started when Ansell was three years old. She was already showing severe symptoms, and I knew she needed to be in the trial. But I also knew it was going to take a huge commitment from her and our family. We had to take many days off work and travel to participate in regular study visits, where Ansell had to undergo days and days of difficult testing. Just to start the trial, Ansell had to get blood drawn 16 times before she could start. I can’t begin to explain how hard those days were.
Since those first days of the trial, Ansell has continued to be a warrior. She has endured day-long home health visits with six blood draws a day and exhausting fasting windows. Our family, including our two older children, prioritized Ansell’s participation in the clinical trial and made many sacrifices to support her.
Although this is not what I imagined our lives would be, I would do it again without flinching. Ansell and our family have given up a lot, because we believe that galactosemia is worth treating. We believe Ansell, and now Louise, deserve to live the lives most kids will get to live: making their own choices and financial decisions, pursuing careers they are passionate about, having families and living independently.
Although we didn’t know whether Ansell was on active treatment or on a placebo during the trial, I saw marked improvement in her ability to express herself, remember friends’ names, regulate her emotions and build relationships. I began to feel tremendous hope that govorestat could offer a more independent, fulfilling life for her and her younger sister.
The galactosemia community fought for govorestat to be approved a year and a half ago, under the FDA’s accelerated approval pathway. Rare disease studies are at a disadvantage because of the small patient population sizes and the lack of previously validated clinical endpoints and knowledge about these conditions. The accelerated approval pathway is vital because it allows drugs that have been proven safe to be approved based on only biomarker data, such as the govorestat data showing it significantly decreased galactitol toxin. This would have allowed all galactosemia patients to be on therapy while additional outcomes, such as cognition and activities of daily living, were studied.
However, sadly, our community’s urgent plea to the FDA for accelerated approval was denied without any explanation or feedback. Now, after a long wait, the placebo-controlled clinical trial evaluating clinical and functional outcomes is complete, and the data recently announced.
The govorestat trial used a composite endpoint evaluating improvement across speech, language, behavior and activities of daily living. It also evaluated cognition and tremor. The overall endpoint missed statistical significance but had a strong trend in the right direction. Measurements of speech and language did not reach statistical significance — likely because almost all patients in the study received speech therapy. However, both measurements of behavior and activities of daily living were highly statistically significantly improved with govorestat therapy. Improving activities of daily living is very meaningful, and includes things that we typically take for granted, like being able to dress, feed and bathe yourself. Improving behavioral symptoms is also important for kids living with galactosemia, and includes things like reducing disruptive actions in school, participating in social activities, and developing and maintaining friendships.
On behalf of the galactosemia community and on behalf of my daughters, I strongly implore the FDA to consider the patient voice when determining review and approval of govorestat for the treatment of galactosemia. No one knows a child better than his or her parents, and the improvements I have seen in Ansell cannot be denied. A treatment is needed now for our community, and for my daughters.
We shouldn’t needlessly wait. Ansell and Louise, and the broader community of people living or caring for someone with galactosemia, should not be denied access to a potentially life-changing treatment that can help them now.
Brittany Cudzilo is the vice president of the Galactosemia Foundation and a mother of four children. She has started a petition to the FDA at Change.org.
View the original article on thehill.com