Nov. 16, 2012
Posted at November 16, 2012 5:44 pm by E. Michael D. (Mike) Scott

One Response to Risk and Benefit, Effectiveness and Safety, Drug Approval, Drug Use, and Rare Disorders

  1. Jennifer Payne says:

    I agree risk vs. benefit and effectiveness and safety are all important considerations in the implementation of a therapy, especially for patients with rare disorders. In the blog post, potential candidates for the treatment of Huntington’s disease were used to make distinctions between these concepts. Can the same scenario be given for phenylketonuria (PKU) and Treatment A – medical food, versus Treatment B – Kuvan? History has shown that PKU is considered one of the most significant breakthroughs in biochemical genetics because the disease manifestations can be virtually eliminated by treatment with a restricted, lifelong special diet. It wasn’t until 2007 that Kuvan became the first drug approved in tablet form with a novel mechanism of action for PKU patients. In the FDA’s summary for their overall review on Kuvan, it was stated “Compliance with the diet, especially in older children, adolescents, and adults is difficult, and non-compliance at older ages is almost universal. Barriers to adherence include economic, psychosocial, and health care systems issues. Thus, new treatments for PKU are clearly needed.”
    As an adult PKU patient, I can lend testimony to the power of the phe-restricted diet – which is safe and effective as has been over the past 40 years; otherwise I would not be here today, – nor would I have had 3 healthy, nonPKU children. There is no cure for PKU. In 2007, Kuvan was launched and FDA approved and is the result of orphan drug research endeavors for novel, alternative therapies for PKU victims. However, Kuvan is 50% effective. Although I have heard Kuvan is “life changing” for some patients, there is still the population of nonresponders who rely on medical food while enzyme replacement therapy is still in the FDA pipeline, and other candidates for alternative PKU treatments are under scientific investigation. In justifying their support for Kuvan – I think the FDA needs to take another look at the barriers of dietary therapy. It is my opinion that financial burden supersedes compliance. How can you expect adults to be compliant with the phe-restricted diet when they do not have access to medical food in the first place? Many adult patients have been lost to treatment due to financial burden for costly medical food products. A legacy of suffering has been the plight of many adult PKU patients – experiencing the devastating neurological sequelae of toxic phe, unnecessarily struggling to survive, perform and function both academically and socially – all because insurance companies refuse to cover their most essential health benefit – “medical food.” It was the FDA that created this barrier – by moving what was once a prescription drug Lofenalac (1958) indicated for use in PKU patients, that became reclassified as a “special dietary food,” later became what is known as “medical food,” which resulted in the “statutory definition of medical food” in an effort to make this product more readily available and foster innovation. I would expect that in fostering innovation, growth and orphan drug development the patient would be the ultimate beneficiary. After all, Kuvan was developed to help patients achieve better, lifelong phe control – but what about the nonresponders? What about the gold standard – the proven, safe and effective dietary treatment that is readily available but not accessible? I know that medical food will probably never be regulated as a new drug since it will take significant resources to comply with new drug application (NDA) requirements. However, PKU patients deserve novel, innovative, safe and effective therapies, and ultimately a cure. What is the point of approving treatments and expanding markets when patients are denied access to them? Obviously, the FDA does not regulate the insurance industry or control costs in the free market system. But, the FDA created this problem, they have an obligation to serve and protect the health of all Americans – rare and common disease, and they need to be a part of the solution. What options do patients have when they do not have the support of the ultimate authority on food and drugs?

Leave a Reply

*

EURORDISRare Disease Day USNORD