Health Topics

Research for New Treatments

Andrew Schorr:

Going back to treatment options now. So we've talked about medication. We've talked about variability. I want to just talk for a second about research, where things are headed. Corinna, you said you hope there's a cure, and we all do, and I hope for that in my leukemia believe me, and so we see these conditions as chronic, and we have to take medications, be monitored, and we wish we could just be done with it and live well. We all dream for that day.

Dr. Enns, where we with continuing research? You talked about KUVAN working for many people, not all people, and we heard from the adult who said I'm waiting to see is it working for me, so are there yet more exciting medications maybe in development, we don't know where they'll go, we have a great start now. Where are we headed?

Dr. Enns:

The most exciting one on the horizon of course is called phenylalanine ammonia lyase or PAL. This is an enzyme that has the ability to cleave phenylalanine in the blood, so it shouldn't matter what type of defect you have. If your phenylalanine level is high in the blood, this enzyme should be able to cleave it. It certainly works beautifully in animal models, but as you know, people are not animals, or most of us are not. The effect of this enzyme in humans is just going to be starting to be studied this year, and we're all very excited to see whether this can truly help patients who have high levels of blood phenylalanine, and it could be very exciting.

I have a difficult time I think trying to control my excitement over this new development, but I also think it's important to discuss it with my patients as I see them in clinic because as I already said, if you have classical PKU, if you have the most severe form of PKU, you might not and in fact you probably won't respond exceptionally well to KUVAN. It really depends on your own individual circumstance. Of course you should be tried on it and see how you respond, but if for whatever reason you don’t, don't give up hope because there are things in the pipeline that I think could really be dramatic. That's my hope. Whether or not this will work in humans, we don't know whether there will be immune reactions or other sorts of responses that will blunt the possibility of it working. We just don't know, but that's what clinical research is all about. We hope to be able to answer those questions, and so I'm quite excited about that.

Andrew Schorr:

Right, and there's a point I want to make, and that is we're all in it together. Now my family is not touched by PKU, but if you're listening to this program, you are, and so with researchers like Dr. Enns, leading centers like Children's Boston, Lucile Packard, and these others where there are people like Dr. Waisbren and Dr. Enns who have devoted their lives to it, you're in partnership with them, and so it's current treatments and also research, because we all want to get to the goal line of a cure or great management of this condition for everyone.

I want to get some final comments. We might go just a couple of minutes over. I want to give everybody a fair chance to make a final comment. Dr. Waisbren, you've been listening to this and you've been participating, and you have devoted your life to this over many years. You've seen lots of changes. So, again, how would you characterize where we are now and how people need to be in an active dialogue, a proactive dialogue, with specialists such as at your clinic and at others in their region so that they get the best care available to them today?

Dr. Waisbren:

I think I'd like to respond to that with the idea of advocacy of our young adults. I think they're now in a position, this is really the first generation that's been treated for life or that has options to have an easier treatment, and I think if they could get involved and start telling us all what they want, what works, how they feel on these new treatments, participating in the research, it would have a tremendous impact on the field.

Andrew Schorr:

We wish you well. First of all I want to thank you for all you do. A lot of people are just hearing about your for the first time, people in New England know you well, and I want to thank you for all you do, and we'll have you back as we do more PKU programs.

Dr. Waisbren:

Thank you.

Andrew Schorr:

Yes, ma'am. Dr. Gregory Enns, let's go 3,000 miles to you. So you said at the beginning you thought it was an exciting time, and you've given us a window into the research, but now we need action for all these people so we add into the mix a new treatment, an approved treatment, and somewhat without limitation really trying to see can it work for different people, so what would you say they do in conversation with their doctor, their nutritionist, or even to seek out specialists such as clinics like yours?

Dr. Enns:

Educate themselves, talk to your specialists, read the literature. You can even go and read as much as you can. If things are confusing, go and talk to your biochemical geneticist, your geneticist, and also become involved. It's a dialogue, and as a physician, the most important thing as already been stated is to really interact with your team and tell us what your needs are. How is this working and how is it not working? How can it be improved? What's your response to this? We need to learn as everybody needs to contribute to this. So as I look forward to the future, I hope we continue to interact, and I'm sure that we're going to learn a lot about this new medication, and I just encourage people to learn, to read, and if they have any questions or any concerns, just really bring that up with the treating team because I think as a whole everybody of course wants nothing but the best for the kids and the adults who have PKU.

Andrew Schorr:

Right. Well said. Thank you. I love these providers. They're so dedicated to the PKU community, and then there's Corinna in Indiana, and you have two members of the household who are affected by it, and then you speak and you're involved in the organization there in Indiana. How would you like to leave it with the parents and the adults living with PKU or in the household, what would you tell them where we are now and how they can really take action to make sure they can get the best for themselves or the ones they love?

Corinna:

I would say a couple of things. I think it's important to be an advocate. Don't forget that we're all human and that we all have the same goal in mind and that is to lower those phenylalanine levels, protect the brain. It's all the same things we've saying in the last hour, but you can be an advocate. If you have questions, don't hesitate to ask your nutritionist or your physician. Send an e-mail. Make a phone call. Don't hold back. It's okay to ask the questions. A lot of folks are intimidated by their physicians or nutritionists. My nutritionist is my best friend, and I can call her any time, I can ask her anything, and my physicians are the same way. So be an advocate for your child or for yourself as an adult, but don't forget that there's a child in there. We tend to get really caught up in the diet. An example is that when my middle son is having dinner, sometimes I get so caught up on the weighing and measuring for the PKUs I forget there's another child here that needs some dinner too, and you just get caught up in it, and let's not forget that these are just people, and this is a diet. It's okay.

There's also a national PKU organization that's being formed right now to help with research, and so you'll hear a lot more about that coming up in the very near future. Please be supportive of that and of programs like yours, Andrew, because getting the word out really, really is critical to the research for this disorder.

PKU is a lifestyle, and there are a lot of things out there that are a lot more detrimental to your health than PKU. I encourage people to remember that it's diet for life and just enjoy your life. It's great to be on the diet and feel good and be happy and healthy.

Andrew Schorr:

There you go. Corinna, I wish you were my mom. You sound like a great lady. We're going to meet you in person some time. All the best to you with your three kids, including the one in the middle with the R-E-G after his name. This is what we do on Patient Power. We like to say that knowledge can be the best medicine of all, and now in PKU we have a medicine, we have an understanding of diet, and we have a community. Remember we've got another program coming up May 27, 2008, helping you with all the reimbursement issues, financial support, and then June 19, 2008, all the sharing of how you can all work together and get tips from other people.

Remember the replay will be posted probably by tomorrow, and we'll add the transcript. Discuss it with folks you know. Tell others.

From Seattle, I'm Andrew Schorr. Have a great evening, and we'll be with you again May 27, 2008.

Please remember the opinions expressed on Patient Power are not necessarily the views of BioMarin, our partners, or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you.