Patient Voices in Drug Research: Our Story Featured on Patients Rising Podcast

 A few weeks ago I sat down with co-host of Patients Rising Podcast, Bob Goldberg. I had prepared remarks based on a list of questions, but podcasts are short and time goes fast, so I figured I would share them in the form of a blog. The podcast aired today so check it out: https://www.patientsrisingpodcast.org/patient-voices-in-drug-research/

My oldest Francesca – who is almost 9 – was diagnosed with Galactosemia at 3 days old and Amelia – who just turned 5 – also has galactosemia. Amelia has a twin sister, Annabelle, who does not have galactosemia.

The diagnosis was terrifying. I mean everything is scary as a first-time mom, but add on having your child experience all kinds of complications and setbacks and then to find out it’s due to a rare disease that you have never heard of and there is no cure for. It was really overwhelming.

 There was so much information out there but a lot of it was outdated. It was so frustrating and scary. And there was an obvious need for more people to raise awareness and funds to support research. So, I said “well I guess I'm going to be a mom with a cause.” So what does being a mom with a cause look like? For me currently, it means being part of the Galactosemia Foundation board, raising awareness and funds for research, and participating in the clinical trial.

For those unfamiliar with the disease, Galactosemia is a rare genetic disease. It is considered an orphaned disease which by definition is any disease that affects less than 200,000 Americans. Galactosemia affects only 1 in 30 – 70,000 people world-wide.

People with Galactosemia do not have the enzymes in their DNA to break down galactose, most commonly found in dairy. But our bodies also naturally produce galactose, at a much higher rate. So, you and I can metabolize galactose and turn it into glucose and energy – it fuels our body. For people with galactosemia it does the opposite. They can’t metabolize it so instead of turning into energy it turns into toxins. The buildup of toxins 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.

A possible treatment

We started our galactosemia journey in 2014, when there was no treatment on the market or even in the works – the only thing our girls could do was avoid consuming galactose. When we found out there was a drug company interested in creating a treatment, we were cautiously optimistic. For a disease that had gone so long without a treatment, it felt too good to be true, but we had hope. And now, we have the first possible treatment under review at the FDA and it feels like everything we have worked for and hoped for, might be taken away. There have been a lot of challenges dealing with the FDA including our patient input and experiences not being considered in the review process. To be honest, maybe they are but we would have no way of knowing because the FDA has been largely non-responsive. We have taken advantage of every opportunity to partner with the FDA such as focus groups, participating in an Externally-Led Patient-Focused Drug Development Meeting, letter writing, and requests for meetings. But the FDA has not demonstrated meaningful engagement with patients and caregivers, and has made decisions, such as not approving the accelerated approval request, without communicating why or if the community impact was considered.

In March of 2021, when we found out the drug was not going to receive accelerated approval and our community wrote letters, made phone calls and urged them to reconsider accelerated approval, but we heard nothing, save for a few generic emails that thanked us for our emails.

It’s been challenging and frustrating to request our community to continually advocate, to rally their family and friends, to write letters and make calls – without having any indication if it’s doing any good. But we continue on because in the end, if Govorestat is approved, it will have been worth it. And if it doesn’t get approved, at least we know we did everything we could to advocate for the treatment.

The FDA opted to do a placebo-controlled study, which means some of the participants would receive the study drug while the rest would receive a “fake” medicine. But it was blinded so the participants would not know which one they were on. We have received a lot of support from our small but mighty community. But that’s the challenge…for any rare disease community really. The small part. You’re already limited by the number of people who have the condition, and then add in some who want to participate can’t – which happened in my family. We enrolled Francesca and planned to enroll Amelia, but she was just too small based on the parameters of the study. And then add in the placebo component – it really limits who can participate. And it limits the results that the study will generate. But our community understood the importance of participating whether you were placed on the drug or the placebo. And honestly, many of us probably didn’t know there could have been another type of study. This was big stuff – the first possible treatment for galactosemia and our community was willing to support, knowing that their participation could mean big things for other people with galactosemia, even if they didn’t benefit from receiving the medicine initially.

With that said, this clinical trial has experienced challenges. And a lot of that has been due to changing direction from the FDA and little to no response from community efforts to engage with them, which I mentioned earlier. When it was decided the drug would not receive accelerated approval, it extended the length of the clinical trial and made it difficult to keep families enrolled. My daughter broke down in tears at one of our clinical trial visits and begged me to let her quit. And I could have. That would be the easy thing to do; at that point I was pretty confident she was on the placebo - but through my own tears I told her that we can do hard things. I said she didn’t yet understand the important work she was doing and how she could be helping thousands of other people – including her sister - and I was afraid that if I let her quit, some day she would look back and be upset that I did. Our kids have put in the hard work, adults with galactosemia have put in the hard work, caregivers have put in the hard work, and we just want the FDA to understand that and approve Govorestat (AT-007).

To that end, The Galactosemia Foundation has been doing a lot of grassroots communications to the FDA and our community to rally support. We have been posting on our social channels (Facebook, Twitter, LinkedIN and Instagram) to help raise awareness and let the FDA know how badly our community wants them to approve Govorestat.

Parents are sharing stories about the improvements they have seen in their children since starting the clinical trial. And this was before it was unblinded – but we didn’t need it unblinded to know who had received the drug, because some participants were seeing significant improvements and others were either staying the same, or as in my daughter’s case, falling further behind their peers. We have families who have seen a reduction in tremors, an increase in cognition and memory, the development of more independent skills like self-care. And sure enough, when the study was unblinded, they were the ones on Govorestat. So, we are urging them to tell their story, both through the Foundation (which we have been sharing on our social media channels) and by calling their local Congress representatives to ask them to address patient engagement at the FDA.

The Foundation recently requested a face-to-face meeting with the FDA to deliver the change.org petition and our Voice of the Patient report but was denied. So for now, we continue to do more of what we have been doing. Rally our community to call their representatives and make them aware of the situation, keep telling our story on social media and tagging the FDA. And encouraging everyone to sign and share our Change.org petition to help raise awareness.

We published an Advocating for a Treatment page on our Galactosemia Foundation website which has all the ways our community, family and friends – and anyone who is interested in rare disease and supporting our cause – can help. The website has a link to the petition to sign and share, a powerful video from our community talking about the need for treatment, information for finding your member of Congress and other articles and tips for sharing personal stories. We will keep moving forward, in hopes that our community will soon receive the first-ever treatment for Galactosemia.

When I think about other rare communities going through similar struggles now or in the future, it makes me sad. Navigating a rare disease is hard enough without spending countless hours and resources communicating our story and asking the FDA to respond to us and approve a drug that has shown to be effective and safe. There is a rare disease division of the FDA for conditions and situations like galactosemia, and we are not being communicated with at all, despite the fact that the director of the rare diseases division Kathleen Donohue, was quoted on a podcast saying, “Patients’ voices really do matter…At the end of the day, we work for patients and we want these treatments to make a difference for patients and to treat what matters for patients.”

We continue to try to engage with them, to seek to understand why decisions are being made and we are met with silence. I understand they have a job to do, but as mothers fighting for our kids, as a non-profit board fighting for our galactosemia community and as a supporter for rare disease communities as a whole, we also have a job to do. And we will keep advocating for our community. I think we want what everyone wants in most situations – to be heard, to be taken seriously and to know our community is valued. But instead, we just feel ignored. I hope the work we’re doing makes the road a little easier for other rare diseases in the same situation.