July 10, 2023

Patient Voices in Drug Research

Patient Voices in Drug Research

One mom’s journey into patient advocacy started after two of her daughters were diagnosed with galactosemia, a rare disease. There’s finally a potential new treatment for this condition, which families say has helped their children who have...

One mom’s journey into patient advocacy started after two of her daughters were diagnosed with galactosemia, a rare disease. There’s finally a potential new treatment for this condition, which families say has helped their children who have participated in the clinical trial. But they’re worried their voices are being ignored. 

Jodie Solari, Communications Lead for the Galactosemia Foundation shares how the diagnosis changed her life into a life of advocacy, and why she’s pushing for the voices of families like hers to be considered when reviewing new treatments. 

Galactosemia Foundation Webpage

Glactosemia Foundation Webpage: Advocating for a Treatment

Voice of the Patient Report: Galactosemia

Fierce Healthcare News Article: Another PBM reform bill has been introduced in Congress. Here's what it includes

Patients Rising Now Webpage: Ask Your Representative to Support the Protecting Patients from PBM Abuses Act

Protecting Patients Against PBM Abuses Act

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Jodie Solari  0:00  
Talk to the parents, they're seeing improvements this drug is working. It's working in the areas that mean the most to us. It's showing improvements.

Terry Wilcox  0:12  
A patient group as the FDA to take actual patient experience into account when considering the effectiveness of a first ever treatment for a rare disease. You speak with an advocate and a mother of two girls living with this condition called galactosemia. Up next, welcome to the patients rising podcast. I'm your host Terry Wilcox, CEO of patients rising. I'm joined by my co host, who still has his eyebrows intact after a firework filled Fourth of July. He's Bob Goldberg, co founder of the Center for medicine in the public interest. So Bob, how was your fourth?

Bob Goldberg  0:46  
Despite the allegation that you hurled in my eyebrows there, they are intact. However, I was disqualified from the Coney Island Nathan's Hot Dog Eating Contest this year. You know, I fasted for 40 days and 40 nights before the eating contest. You're not allowed to do that. You've got to be heading into a thing and a full stomach. So sorry to disappoint all my fans. It is good to be back after taking last week off however. And for our returning listeners. Welcome back and to any new listeners. Thank you for tuning in. Here on the patients rising podcast we cover health policy news that impacts the millions of Americans who live with a chronic illness. And whether it's legislation in Congress new rules and updates from agencies like the Food and Drug Administration or our friends at CMS, we're joined each week by experts who break down the latest news that affects your ability to access care.

Terry Wilcox  1:48  
Today's guest gives us a rundown of her and her family's experience with a rare disease called galactosemia. And their experience trying to move a potential treatment forward. Jody Solari is a mother of three children, two of which live with this disease. She's also the communications lead for the galactosemia Foundation. And before we get into her advocacy, here's Jodie explaining what galactosemia actually is.

Jodie Solari  2:14  
So people with galactosemia, they don't have the enzymes in their DNA to break down galactose, which is most commonly found in dairy products, but can be found in other things. Aside from that, our bodies also naturally produce galactose at a much higher rate than what we get through food. So you and I, we metabolize lactose fine, and it turns into glucose at energy fuels our body. For people like my girls with galactosemia, it does the opposite. They can't metabolize it. So instead of turning into energy, it turns into toxins. And that buildup of toxins can lead to various long term complications such as cognitive and development delay, memory issues, speech delays, behavioral challenges, such as sensory processing disorder, other learning disorders, tremors and seizures, fertility issues for women, and much more.

Bob Goldberg  3:12  
So like so many patients with rare diseases, she hadn't even heard of the disease, until it happened to her two daughters.

Jodie Solari  3:19  
In a word, it was terrifying. I mean, I think everything is scary as a first time mom, but then having your child experience all kinds of complications and setbacks. And they really don't know what they're from, and then finding out that they're due to a rare disease that you have never heard of. And there is no treatment or cure for it was really, really overwhelming. And then once we had the name, you know, you do what you do you Google it, right. And there was so much information. But a lot of it was just really a worst case scenario. A lot of it was outdated. And it was just really frustrating and scary. And there was an obvious need for more people, I think, right then to raise awareness and funds to support more research so that we could work towards a treatment and a cure. So I pretty early on, I said, Well, I guess I'm going to be a mom with a cause. And here I am.

Terry Wilcox  4:14  
Now, Bob, this is a story that we hear all the time. And this is how so many, especially disease specific rare disease specific nonprofits are born is people learning about a disease while it's happening, and then realizing that there's work to be done, right that they've got to jump in and try to make a difference to either save their child or a family member or whatever. But this is such a common story that we hear about.

Bob Goldberg  4:44  
There's good news, bad news, good news in the story. The good news is that there was no treatment. But people, researchers were actually working on two different therapies, even as people begin And realize that their children were being affected. The bad news is that the FDA still does not have its act together fully when it comes to integrating the patient's voice into the development approval process. As you noted, Terry, no current treatments. And when the news of opportunity arose, Jodie hope to get help her daughters, Amelia and Francesca. And believe it or not, the FDA previously denied this drug accelerated approval, I guess, in the context of may not be that surprising. So patients are now have been required to enter into a placebo controlled study.

Jodie Solari  5:42  
I think, honestly, as a rare disease and someone that doesn't even have a treatment available, we were just happy to have a study, it does get frustrating. The more you're in it, the more you understand. But when it first started, it kind of felt like it doesn't matter if you know my child's on placebo or not. Because if this gets approved, it still means approval, it means Betterment for the larger community, it's going to make a difference. So I think that you know, when we enrolled Francesca and I actually plan to enroll Amelia too, but she was too small, based on the parameters of the study, we didn't really know there was another option, I guess, like not having the background, it was just like, This is what it is. So you know, as we've experienced it, and it's gone on longer, and we realize more of the challenges of being a small group. And then like with Amelia, even everybody that wants to participate might not be able to, and then knowing that there's a big group on placebo, so you're not going to reach that statistical significance as quickly as you might if everyone was on drugs.

Terry Wilcox  6:50  
So here's the thing, you and I have a lot of problems with placebo controlled studies in rare diseases. Yeah. It is a flawed way of doing things. It's just it is completely flawed, not for everything. I'm not saying placebo controlled studies don't have a place. But I think when you're looking at these types of patients in these really small, you know, rare diseases. It's so evident, as we'll hear about in a minute, it's often so evident when your child's not on the drug.

Bob Goldberg  7:22  
Right? I mean, that's the most important thing, it's not really ethical to have a placebo controlled study in a population like this, scientifically, he knows we've learned with the Shane's muscular dystrophy patient group, the heterogeneity of response and progression is so different, so granular, that coming up with a control group is almost impossible. So the fact that it is a placebo controlled study says to me, Terry, that the FDA is still using the old manual, and hasn't gotten up to speed, it hasn't put the time and effort in to these smaller patient populations that don't have the expertise and experience that many of the other patient groups have.

Terry Wilcox  8:09  
Well, right. And another frustration that Jodie mentioned with the process is that it felt like the improvements that parents noticed in their children weren't being taken into account or aren't being taken into account when reviewing the success of a treatment,

Jodie Solari  8:25  
We have received very little to no feedback from the FDA, unfortunately. So we don't know that our experiences and our patient input has been considered, we have no idea. We certainly want to partner with the FDA, and make sure they understand how much this means to us. And that, you know, we understand that they had a measurement that they wanted this clinical trial, this drug to meet, and it fell short of their measurement. But when you look at the families, I mean, we it was a blinded study, of course, so I didn't know Francesca was on placebo, but I certainly suspected it. The fact that we didn't see really any changes or any market improvements, we saw her continue to fall behind her peers in math and in reading, while other parents saw a stop of tremors in their child, or just through remembering friend's name. So helping with the cognition and the memory things that can be really hard for a child as they're trying to learn and just so simple things that they can't do or self care or you know, certain responsibilities. And parents we're seeing changes. So before we even knew who was on placebo and who wasn't officially we kind of knew all that to say that, you know, the FDA had markers that they wanted met. I understand the importance of that, but we fall short and I don't have the data right in front of me but I feel like it fell short in like one of four areas, and then put the overall number below what the FDA was hoping. But, I mean, you're talking to a journalism, major numbers aren't everything. But, you know, talk to the parents, they're seeing improvements, this drug is working, it's working in the areas that mean the most to us, it's showing improvement, so to think that this drug may not be approved, and then these families who have been on drug are gonna get it taken away, and most likely see their children regress back to how they were and then maybe get worse, is really heartbreaking for us as a community.

Terry Wilcox  10:40  
So Bob, what is your take on this? They didn't achieve statistical significance. But were they really asking the right questions of the people taking the medication and observing the children on a daily basis?

Bob Goldberg  10:54  
Well, let's be clear. Statistical significance does not mean that the drug did not work. It means that given the way in which the trial was designed, the probability that you would run the same trial again, and get the same results didn't meet a arbitrary P value, predictive value. So statistical significance does not mean there was no clinical significance. And as you pointed out, Terry, the kids are seeing real improvement. So, you know, what we need to have the FDA do is take real people into account. This should have happened a long time ago. Part of it was as God you know, when I interviewed her said, they just didn't know. And I think that's part of the problem is that the FDA, if people, children with these kinds of diseases, they just want to get something as quickly as possible. They weren't trained and live their lives as FDA. intermediaries. We need to improve and I think patients risings does a fabulous job, improve the skills and the abilities of people to interact with the FDA.

Terry Wilcox  12:05  
While the FDA is currently creating guidance for patient focused drug development, which incorporating clinical outcome assessments into endpoints for regulatory decision making, we'll have a link to that in the show notes, just so everyone knows, this is supposed to help determine how patient experience data can be used in regulatory decision making by the FDA.

Bob Goldberg  12:25  
Right, you know, and that's in the law. So the question is where to families like Jody, go from here. So the clinical trial did meet all the markers, families are saying that they've seen a benefit and other orphan drugs have been approved, based upon that kind of carefully recorded patient family experience. So now the next step is a meeting with the FDA to talk about a new drug application submission.

Terry Wilcox  12:54  
We will continue to follow up on this and hopefully, we can have God back on for some updates in the coming months. Thank you again to God for joining us today we'll have more information on the galactosemia foundation in the shownotes.

This episode of the patient's rising podcast is brought to you by the patient's rising helpline, our team is here to help you with your biggest healthcare challenges. We have worked with more than 4000 patients, which means our crew of patient navigators has narrowed down the best local, state and federal health care resources to solve your biggest challenges. To get in touch, leave us a voicemail or send us an email using the link in the show notes.

Bob Goldberg  13:41  
Now for a quick policy update from Capitol Hill, there's another PBM bill that has been introduced in this is one that we are following closely. Several members of the Senate Finance Committee introduced a bipartisan bill to combat PBM practices in Medicare Part D. It's called the patients before middlemen act. Big thing to note, the bill would require any PBM operating in the Medicare Part D space to charge a flat fee administrative fee for services rendered, rather than basing their fee on either drug price or utilization. Terry? Hello,

Terry Wilcox  14:24  
I wonder you know, it's one of those things where I look at it and I'm like, wow, if that passes, I wonder what year that'll start like 2035. Like, they've been using the rebate game to pay for stuff in their bill. For so many years. I'm not sure. No, this is great. I totally support it. I'm just, you know, the reality of even at passing is like, how much longer do patients have to wait? Once it looks something like this would pass based on the jujitsu of how they're using the rebate money as a as a pay for in their bills. So the difference between charging a flat rate for is charging it based on the drug price or utilization. I mean, that's huge. So then you won't see as many formularies in such putting the most expensive drugs as the ones that are preferred. Just because they make the most money.

Bob Goldberg  15:13  
Exactly, you get a flat rate, the pricing hopefully would obviously we'd be transparent, you would pay out of pocket for the, hopefully the out of pocket costs would be less because the rebates would be passed through to the patient. So take a closer look at that bill, and we can talk about it in the future. 

Terry Wilcox  15:33  
We will have a link to the article on the bill Bob and I discussed in the show notes along with a link to where you can write to your representative to show support for another PBM bill. This one is the protecting patients from PBM abuses Act, which has been introduced over on the House side now. Click that link, fill out the form and your support will be counted. Thank you for listening to today's episode of the patients rising podcast. Make sure you share this episode with fellow patients, advocates and caregivers.

Bob Goldberg  16:03  
And don't play with fireworks. Listen to Dr. Bob. And also click the Follow button so you don't miss out on any of our upcoming episodes.

Terry Wilcox  16:12  
We'll be right back here on Monday with another new episode. Until then, for Bob and everyone a patient's rising. I'm Terry Wilcox, stay healthy.

Jodie SolariProfile Photo

Jodie Solari

Communications Lead at the Galactosemia Foundation.