Christine is the Executive Director of the National PKU Alliance and Dr. Tom Franklin is Chairman of the NPKUA Scientific Advisory Board.
Hi Christine & Tom, thank you for joining us! Can you tell us a little about the National PKU Alliance and the reasons NPKUA was founded?
The National PKU Alliance (NPKUA) works to improve the lives of individuals with phenylketonuria (PKU) and pursue a cure. We were founded in 2008 by a number of local PKU organizations in the United States that understood the importance of creating a coordinated national voice for the disorder and a central repository for research donations for PKU. Since then, we have always worked with the goal of improving the daily lives of those affected by PKU and accelerating the research agenda that will lead to a cure.
Q: Phenylketonuria is a complex condition with lifelong impact on sufferers and their families – can you explain the difficulties this condition causes and how NPKUA help people to overcome those difficulties?
PKU is an inherited metabolic disorder where your body cannot process one of the essential amino acids called phenylanaline (phe). A person with PKU does not produce enough of an enzyme in the liver called phenylalanine hydroxylase (PAH). This enzyme is needed to process phe, which is found in food items that contain protein. When people eat protein, it is broken down into different amino acids which are then processed and used for growth and repair of body tissue. People with PKU cannot process phe in this way, and so phe builds up in the brain and blood and becomes toxic.
The main course of treatment for PKU remains medical foods. Medical foods include a medical formula that provides all of the essential amino acids found in protein except phe and foods modified to be low in protein. This restrictive and complex regime can be difficult for patients to adhere to over the course of their lifetime.
PKU is screened at birth by several countries around the world. If PKU is not screened for and treated at birth, it can cause severe, progressive mental retardation. Children and adults that are off treatment and have high phe levels also experience many medical issues, including depression, impulse control disorder, phobias, epilepsy, tremors and pareses. Women with PKU also face a special dilemma in planning a pregnancy. Infants of mothers without carefully controlled phe levels during pregnancy exhibit mental retardation, heart defects, and growth retardation
Q: The NPKUA Challenge is looking to source proposals for a home test for phenylalanine – can you describe how the challenge is structured and why you feel Challenge Driven Innovation has potential to source advances in this area where traditional pharmaceutical or diagnostic companies have not?
This first step is a Theoretical Challenge and requires only a ‘paper response’ (no more than 10 pages) on how the solver would approach the solution or any technologies they have that could be applied. A Panel of Experts will review the responses to the Theoretical Challenge and select up to eight (8) solvers to be awarded $10K to take the next step and describe in more detail how their solution would work. Out of those 8 responses, up to six (6) could be awarded another $10K to put together a detailed plan of execution of their solution that would show how they would get to proof of concept. Out of those 6 responses, up to three (3) could be awarded $50K to actually demonstrate proof of concept using real PKU patients’ body fluids. From those 3, up to $200K would be awarded to take the project to a manufacturable prototype suitable for commercialization as a home phe monitor. That is the plan at the moment, but we are extremely flexible in how we go forward following the results of the first challenge – initial feedback from several Solvers indicate that there are technologies that have been advanced beyond the theoretical stage and are entering proof of concept. Our interest is to foster development of technologies that could provide a viable home test for people with PKU. This is not a commercial enterprise for NPKUA and the challenge process will be adapted based on the initial proposals and how Solvers are able to move forward.
We believe one of the reasons that a home test for PKU is not ‘on the radar’ of most diagnostic and pharmaceutical companies is that PKU is a rare condition and so this limits the potential market for tests. Other factors that make this challenge difficult are the demands of developing a home test vs. a standard laboratory test. Home tests have to be very robust and easy to use, whereas laboratory tests can accommodate the need for large expensive equipment and complex sample handling procedures.
Nevertheless, we are optimistic that there are some promising technologies and skilled people out there who, with our assistance, can make the leap. The benefits to people with PKU of being able to daily monitor their disease status and adjust diet and lifestyle accordingly is truly awesome!
Q: What type of Solvers and skill sets need to be applied to providing solutions to this Challenge and actually implementing a workable prototype home test?
This Challenge will require a multitude of talents depending on the technologies used including but not limited to: assay development, body fluid sample collection and handling, microfluidics, molecular biochemistry, biophysics, sensor technologies, electronic instrumentation and miniaturization, electronic display, embedded computation and data storage, and regulatory understanding for diagnostic test equipment. The funding that NPKUA has secured is to be used to help Solvers access the resources they need to move their technologies forward in order to deliver benefits to people with PKU. In this first challenge we are looking to identify Solvers with one or more parts of the puzzle and the motivation to develop and integrate them.
Q: What guidance would you give to Solvers looking to engage in this challenge?
The toughest problems will be associated with:
- Getting enough sensitive and resolution to measure or correlate with the low levels of phenylalanine or related metabolite to be meaningful in the PKU patients.
- If using whole blood samples, making sure that range of PKU patients’ blood samples are used to evaluate technology and not just ‘spiking’ whole blood with phenylalanine.
- Reducing the technology selected to a desirable level for home use from a size, weight, cost of device and cost per use, and ease of use perspective.
If you think you could contribute to this Challenge or otherwise help NPKUA, visit the Challenge Description or Contact InnoCentive directly