Tag Archives: BioMarin

Six things to know when selecting a new PKU clinic

transferring medical care, PKU, phenylketonuria, finding a new PKU clinicTransferring medical care to another provider can be a daunting process for just about anyone. For those of us with PKU – a rare condition affecting 1 in 10,000 to 15,000 – finding other professionals who are qualified to treat our condition might seem so unlikely that the feeling of uncertainty suppresses any intent we originally had for making that change. Yet, having a clinical team that both performs at a high level and achieves some level of compatibility with its patients is critical to ensuring successful treatment.

Setting PKU aside for a moment, consider how you might react after hearing the news that you needed to have open-heart surgery. It would not be unreasonable to expect that before electing to have the procedure you would conduct your own research, check hospital rankings and gather data about the surgeon’s experience. Open-heart surgery may be an extreme scenario to compare to the treatment of PKU, yet I would argue that the motivation for seeking out the best medical care should apply as much to a rare, chronic condition as it does to severe and sudden medical emergencies.

Perhaps no one has better illustrated the importance of a solid physician-patient relationship than Jessie Gruman, the founder and president of the Center for Advancing Health, when she served as a guest blogger for KevinMD.com. In the post, she writes:

“If I feel she has really listened to what is going on with me and what it is going to take for me to do what she recommends … if we together make a plan about next steps … if I trust her expertise and experience, I am much more likely to try to do my part. On the other hand, if I feel like she sees me as just the next problematic body part to appear on a fast-moving assembly line, if she is talking at me, not with me, if she interrupts, corrects me or ignores me, all bets are off. I’ll take her recommendations under advisement but do what I think is best.”

Earlier this year, I made the very personal decision to transfer my care to another PKU clinic. It wasn’t a decision I took lightly, nor did I make it in haste. I wanted to ensure that the professionals I partnered with were experienced with maternal care, had a successful (and recent) track record with mothers who successfully gave birth on the PKU diet, and most importantly, I wanted a clinical team who was refreshingly optimistic about working with maternal PKU patients.

Despite my motivation for transferring my medical care, PKU patients and their families seek-out alternative clinics for a variety of reasons. Not everyone looking for a new clinic does so out of dissatisfaction.  Families relocating because of a new job will also gather insight on new clinics located in the communities where they plan to move. Since it is conceivable that all PKU patients and their families might one day be faced with the task of finding a new PKU clinic, I thought it would be helpful to share some tips for making the transition as smooth as possible.

With that in mind, here are six things to know when selecting a new PKU clinic:

TransferringMedicalCare-No1What other metabolic clinics are located nearby? Are there other clinics in your state or what about across state lines? BioMarin’s PKU.com has a ‘clinic finder’ tool that will allow you to search for clinics based on your zip code and the mileage you are willing to travel.

TransferringMedicalCare-No2Does the new clinic accept your current insurance coverage? Contact your insurance company’s customer service department (the number is usually located on the back of your insurance card) and ask them to look up the new physician to see if they are considered ‘in-network.’

TransferringMedicalCare-No3Is there a fee to release your medical records? The federal law known as HIPAA, short for Health Insurance Portability and Accountability Act, guarantees the right to access your own medical records; however, some clinics may charge a fee to release them. Georgetown University’s Center on Medical Records Rights and Privacy offers a complete list of state-specific record release laws and fees. In some cases, if you request to have your medical records sent directly to the new clinic you may be able to avoid the processing fee.

Once you have found a possible new PKU clinic, schedule a new patient appointment and be candid about the objective of your meeting. You should approach this appointment with the same mentality as a job interview – making sure they are as good of a fit for you as you are for them. Here are some questions worth asking any new metabolic clinic:

TransferringMedicalCare-No4How frequently would you be required to visit the clinic? At a minimum, most PKU clinics prefer to see their patients on an annual basis; however, the frequency of visits may increase for some patients depending on the nature of their care. For example, newborns recently diagnosed with PKU and maternal PKU patients may need to travel for in-clinic visits more often. Thankfully, technological advancements are making it easier for healthcare providers and patients to work together remotely. Ask your clinic if they are comfortable handling a portion of your care remotely. As long as they are receiving regular blood levels and you are talking with them often via phone or email, they may not have any issues.

TransferringMedicalCare-No5What do you know about the staff’s credentials and the clinic’s operations? More than knowing a practitioner’s education, training and certifications, do they have physicians specializing in maternal PKU, newborn screening, adolescents, etc.? You may also want to ask about the patient to physician ratio. Are they overworked and spread thin? How does the clinic prioritize patients and how long can you expect for a turn around on blood work, returned phone calls, new prescriptions and other administrative processes?

TransferringMedicalCare-No6Is the practitioner willing to work together with your traditional healthcare providers? If you are seeking out a new clinic for maternal PKU, is the physician willing to collaborate with your obstetrician? If you are a parent of a PKU child, is it important to you that a PKU clinic works closely with your primary care physician to track growth, developmental progress and other medical concerns?

Managing the PKU diet can be labor intensive in and of itself…that is without having to take-on the hassle of finding a new physician. But keep in mind that proactive decision making will give you and your family a greater degree of control over your treatment. And in the end, it will all be worth it.


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Filed under Advocacy, Lo-pro Diet Management, Maternal PKU

PKU patients and caregivers can participate in study for evaluating device linked to PEG-PAL

If you live in the San Francisco Bay-area and either have PKU or care for someone with PKU, there is an opportunity to participate in a paid usability study for a potential medication delivery device.

The device at the center of the usability study would used to administer PEG-PAL, an injectable enzyme substitution developed by BioMarin Pharmaceutical that has shown to lower phe levels in PKU mice. According to the National PKU Alliance, PEG-PAL recently completed Phase 2 FDA clinical studies and all patients enrolled in that phase had experienced some measurable decrease in blood phenylalanine levels. BioMarin is moving forward with the third and final phase that would ultimately bring PEG-PAL to a commercial status, which also explains the recent interest in figuring out just how patients will react to the process of injecting themselves with the drug.

Interface Analysis Associates, the California-based human behavior consultancy firm that has partnered with BioMarin for this study, will offer two 30-minute sessions in early September 2013 and will pay participants $150 to learn how the device works and perform mock injections. There will be no needle pricks and no actual medication administered. Participants will be asked to provide feedback on their experience and preferences.

Usability Study for PKU Patients and Caregivers

Click image to enlarge.

I was asked to participate in the study but because of the 2,500 miles between East Tennessee and the West Coast I had to respectfully decline. Nonetheless, it’s a great opportunity for others in the PKU community to directly impact the design and functionality of how this exciting new treatment will be delivered. It was also smart of BioMarin to initiate this usability study – not just from a bottom-line perspective but also because patients will have an investment in the product, the opportunity to suggest design improvements, and will likely become more satisfied with how it works.

If you’re interested in participating in the study, be sure to sign-up quickly. September is right around the corner!


P.S. If you do participate in the study, you’ll have to return to PKU Parlor and let us all know how it went! 🙂


Filed under PEG-PAL, Research

Placebo study could impact PKU clinical drug trials

Findings from a study published in the Oct. 23 edition of PLOS ONE, a peer-reviewed online scientific journal, suggests that people with a gene variation that leads to higher dopamine levels in the brain respond better to placebos than those individuals with low dopamine levels.

The science, health and technology news website LiveScience reported on the study and described how researchers tested to see whether a person’s genes can control a placebo response:

PKU, Phenylketonuria, Gene Mutation, Gene Variance, PKU Clinical Trials, Placebo

“To find out, Hall and her colleagues analyzed DNA from 104 patients with irritable bowel syndrome who were randomized to one of three groups: One was told they were on the waiting list for treatment, another received a placebo in the form of seemingly real, curt acupuncture, and the third group received fake acupuncture from a caring, warm practitioner who looked patients in the eye, asked about their progress, and even touched them lightly, Hall told LiveScience.

Patients with the high-dopamine version of the gene felt slightly better after seeing the curt, all-business health-care provider that gave placebo acupuncture. But they were six times as likely to say their symptoms improved with a caring practitioner as those with the low-dopamine gene, who didn’t improve much in any group.

The findings suggest that medical studies called clinical trials could identify treatment versus placebo effect by grouping patients by gene variant, Hall said. Knowing up front the level of placebo effect for a clinical trial could reduce the cost of the trial significantly by using fewer participants, for instance, she said.”

How does this relate to PKU?

PKU patients have very little or no phenylalanine hydroxylase (PAH), an enzyme in the body that converts phenylalanine into tyrosine. Tyrosine is used by the brain to synthesize dopamine, an important neurotransmitter involved in motor functions and mood. This means that PKU patients, especially those “off-diet” or those not regularly consuming formula, will experience relatively low levels of dopamine. This is the reason that some of the side effects experienced by PKU patients on an uncontrolled diet can include anxiety, depression and other mood disorders.

No doubt, it will be interesting to see whether these new findings will have any impact on how BioMarin or other pharmaceutical companies will structure future PKU clinical trials. Researchers will have to consider whether having a mixture of on-diet and off-diet PKU patients randomly assigned to control and experimental groups will have any bearing on the trial’s accuracy. Or perhaps a closer look at the specific gene mutation that allows some individuals to operate with higher dopamine levels will someday provide answers for how to increase dopamine in those of us who could benefit from a little more.


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A revamped PKU.com is on its way!

Just this past week, I was fortunate enough to participate in a telephone survey administered by a representative from GA Communication Group, a Chicago-based marketing agency that has partnered with BioMarin for the complete redesign of PKU.com. When I spoke with GA Communication Group, the agency was in the process of interviewing several subgroups of the PKU community including on- and off-diet patients, Kuvan patients, dieticians and PKU parents. The questions not only focused on the ways in which these groups used PKU.com, but there was also a genuine interest behind gaining more understanding into the complexities of receiving a diagnosis, talking about it with friends and family, as well as understanding the mechanics behind tracking and documenting phe intake.

PKU.com screenshot , Phenylketonuria, BioMarin

Pictured above is a screenshot of the current homepage for PKU.com. BioMarin and GA Communication Group have partnered together to redesign the site and hope to launch the new site later this year or by early 2013.

There’s no surprise that a significant portion of the interview delved into the subject of new communication technologies. After all, a lot has changed in terms of the way we seek out and share information through online platforms. For example, when prepping for the telephone interview, I was surprised to learn that I had in fact created a PKU.com user profile when I first stumbled upon the site in 2007. Despite having registered an account, I didn’t actually fill out any of the empty fields under my profile. I speculated to the GA interviewer that in 2007 it was very likely that I was hesitant to put myself out there. Much has changed since then. Not only do I have a Facebook page, but most people I know would think I’m crazy if I didn’t have one!

GA Communication Group and BioMarin plan to wrap-up the research phase of the PKU.com redesign effort very soon. However, it will be several months before the rest of us get to see the final product. Ultimately, I would like to see the new PKU.com have a more user-friendly interface – one that can be easily accessed from any number of electronic devices. I’d also like to see a portion of the site used for communicating current PKU research initiatives. With BioMarin sponsoring this site, I’m not sure how much of a conflict of interest that might present if there are other companies interested in PKU research. Perhaps a strategic partnership with either the National PKU Alliance or some other non-profit organization for managing that portion of content would help resolve that dilemma.

On that note, how many of you regularly visit PKU.com? And if you’re familiar with the site, what would you change about it? I even thought it might cool to incorporate a Skype-like video conference feature so that registered users could chat with each other long distance. Whatever your thoughts are; be sure to submit them in the comments section below. Looking forward to hearing from you!


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Maternal PKU and Sapropterin

This past February, the National Institutes of Health (NIH) hosted a scientific review conference on Phenylketonuria to discuss the “state of the science and future research needs.” The event was free and open to the public, but even if you could not cover the cost of travel and accommodations, the two-day event was also broadcasted live via webcast. I managed to log-on during my lunch break and listened intently to a session on PKU and Pregnancy. To my surprise, much of the PKU and Pregnancy presentation focused on Sapropterin and its use during maternal PKU (Sapropterin is the generic name for Kuvan, the first prescription drug approved by the U.S. Food and Drug Administration to lower blood phe levels in PKU patients).

To be clear, Kuvan is not recommended for maternal PKU unless the benefits outweigh the risks. That is because when ranked on the FDA’s pregnancy classification of drugs, Sapropterin is considered a category C drug since it is still unclear whether Sapropterin crosses the human placenta.

Research presented at the NIH conference confirmed that in some rare instances, Sapropterin had been prescribed to pregnant PKU patients, but only when the woman could not achieve dietary control at the start of her pregnancy. As early as 2005, Sapropterin was the focus of a study led by medical pioneer and PKU advocate Dr. Richard Koch. The patient was responsive to Sapropterin and during her pregnancy, she continued the medication at 40, 60, and 100 mg per day in the first, second, and third trimesters. Used in combination with low-protein food, optimal phe levels were achieved without any nausea and vomiting. More importantly, the woman’s child was born normal. Four years later, another study conducted by one of the presenters, Dr. Gabriella Pridjian from Tulane Hayward Genetics Center, reported on another pregnant PKU patient who had difficulty tolerating low-phe protein supplements. She was instructed to divide the Sapropterin up twice daily and ultimately had a healthy baby delivered through c-section. Pridjian noted that there were plans to eventually formally test the baby (who was now three years old) for any intellectual or developmental issues.

In addition to these two case studies, the NIH panel reported that other pregnancies involving the use of Sapropterin were currently underway. In addition to concerns about whether Sapropterin harms a developing fetus, doctors admitted it was hard to determine if symptoms such as headache, rhinorrhea, vomiting, fever, abdominal pain, rashes or nasal congestion were a result of the prescription drug or simply associated with the pregnancy.

Even though the maker of Kuvan, BioMarin, does in fact encourage pregnant women who were exposed to Kuvan during their pregnancy to participate in ongoing studies about the drug’s effect, there are no plans for future controlled studies. Based on what little has been conducted, including the two case studies I’ve mentioned here, initial reports of using Sapropterin during pregnancy are encouraging. However, continued research on this matter is definitely a must, especially with concern to the long-term implications the drug might have on a PKU woman’s child.



Filed under Conferences & Events, Kuvan, Maternal PKU, Research

Kuvan Responder Trial: Prepping for a Second Attempt

Since my Kuvan responder trial last August, I’ve had many conversations with BioMarin representatives who say they are not yet ready to “throw in the towel” when it comes to deciding whether I am a responder to the first PKU prescription drug.  The results of my first attempt were determined inconclusive; however, as a PKU patient currently off-diet, my eating habits are certainly more complicated than those folks who normally embark on this journey.

Needless to say, I’ve given the matter much thought and do feel that it might be worth a second go-around with the Kuvan responder trial later this year. A couple things will be done differently though. Here’s a look at some of the changes that will hopefully lead to a more definitive result.

Obtain baseline data of phe-levels prior to Kuvan responder trial—Since my unrestricted diet complicated matters, I am sending my clinic a blood sample and comprehensive food diary once a month in order to establish a baseline phe-level. During my first Kuvan responder trial, I was manually tracking protein using my iPhone’s notepad app. This time, however, I’ve starting using a different, free iPhone app called MyFitnessPal which tracks all sorts of nutritional data including protein. I just completed my baseline phe-level for the month of March. For that day, I had consumed 83 grams of protein and my phe-level came back at 17.6mg/dl. By the time I make a second attempt at a Kuvan responder trial, I should have 4 or 5 of these baseline phe-levels to work with.

Using My Fitness Pal for tracking protein

Left-hand screenshot shows food diary for March 13.
Right-hand screenshot shows nutrient details for all food consumed that same day.

Collaborate hand-in-hand with a Kuvan clinical coordinator—Communication issues and the lack of a well-defined trial process may have impacted the results of my first Kuvan responder trial so I was happy to hear that BioMarin has created a new position called the Kuvan clinical coordinator. This person serves as a liaison between PKU patients who are exploring the use of Kuvan and the metabolic clinics that prescribe it. A quick Google search found a BioMarin job posting which described the new position’s responsibilities as collaborating “with assigned patients to ensure compliance with the clinic’s protocol, assess response to Kuvan therapy, advocate for patient needs, conduct patient-level education, and…to address specific issues and needs that arise following the decision to initiate the Kuvan trial.” I have already met my clinic’s assigned Kuvan clinical coordinator and do feel she will bring some much-needed structure to the process.

Less variation in food consumption—The last adjustment currently being considered for my second Kuvan responder trial is the possibility of eating the same foods and same portions throughout the duration of the trial. As I understand it, this second trial may need to extend as long as three to four weeks. Eating the same breakfast, lunch and dinner for that amount of time might be rather tough, but to help make it easier, one alternative I’d like to explore is re-purposing the food data I’m already tracking in the MyFitnessPal app. That same information can be used to create a list of meal combinations I can alternate between during the trial while still consuming the same approximate amount of protein.

As you can see, preparation is key! It sounds like a lot of work—which is why I am waiting until after grad school to attempt a second time—however, if it works and I am determined to be a Kuvan responder, the benefits can far outweigh a couple weeks of inconvenience.


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Kuvan Responder Trial: Delayed Results Presented and Explained

First let me express my apologies for being away from this blog for so long. I spent the final months of 2011 researching, writing and defending my masters’ thesis. It was a very intense process that consumed any free time I might have had left after also working fulltime as a communications and marketing specialist. I am now in the process of working through my last class at the University of Tennessee and as I edge closer and closer to my May 10 graduation, my focus is once again shifting back towards PKU.

One of the subject areas I left unresolved during my five-month hiatus was the results of my Kuvan responder trial. To be fair though, I had anticipated hearing at the end of the trial a clear yes or no as to whether or not I was considered a responder to the first PKU prescription drug. Instead, my phe levels were all over the place and a number of variables were suspected to have led to the erratic results. Needless to say, I needed to work through some of this confusion before reporting back to my blog followers. To sum it all up in one word, the results were inconclusive. Here’s a closer look at my blood test results:

PKU Kuvan Responder Trial Results DataFor any readers who might need some additional context, I have been told that a person who does not have PKU will normally have a phe level of 0. If that same person just finished eating a meal that is high in protein, their phe level might register at a 1 or 2. However, once the food has been fully digested, the phe level will return to 0. Clearly, from these results, my phe level hasn’t dropped anywhere near safe levels.

In addition to blood tests, I was also asked to track mood or disposition changes I experienced throughout the trial. I will admit that after being on Kuvan for several days, I felt as though I might be slightly more relaxed and getting a better night’s sleep. However, assuming that because I knew this medicine might improve the way I feel, there’s a possibility that these mood changes could also be attributed to the “placebo effect”—the idea that a treatment appears to exhibit results simply because a patient believes it will work.

Ultimately, my clinic recommended I consider a second Kuvan responder trial; this time with more emphasis on controlling some of the variables that might be responsible for the inconclusive results. I haven’t rejected the idea of giving it another shot, but obviously with grad school still in progress, it will probably be several months before I do. During my next post, I’ll take a look at what some of those variables are and also discuss what changes might occur in a second Kuvan responder trial.


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