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  • Hi all,

    I am SO sorry I haven't posted anything on here in ages! My aim was to keep you posted on the progress of my PhD research as well as other developments and research in PKU, but as I am so keen to do research in this area, I am currently involved in 4 projects, doing some consultancy related to PKU on top of this and - as if that wasn't enough - I have recently been doing some work in my spare time to aid the PKU Association of Ireland with one of their projects.

    So what have I been up to..? As you all know Kuvan is a drug that can help some (not all, I think the latest literature suggests about 20-30% oa all patients are BH4 responders) of PKU patients relax their diet, or for a select few, go off diet completely, whilst keeping their Phe levels in the recommended ranges. Whilst this drug is not for everyone and research into alternatives to the conventional dietary treatment, as well as improvements in the protein substitutes, is ongoing, I agree with the latest European guidelines stating that "All patients warrant testing for BH4 responsiveness either by genotyping or BH4 loading".

    Every PKU patient is individual, and whilst some people perfer nutrition (dietary management) over synthetic drugs (which Kuvan essentially is), others struggle with the strict diet and could benefit from a little 'help' in maintaining their levels within the desired ranges.

    Ireland has one of the highest prevalances of PKU in the world (approximately 1 in 4.500), yet access to treatments for PKU is very limited. The amount and variety of available low protein products is scarce (but improving I think), and, at the moment, Kuvan is not being reimbursed to patients. The reasoning for this is it is an expensive drug and there is a treatment that works just fine (conventional dietary treatment). That might be true, but I conducted a survey for the PKU Association of Ireland and found that a lot of families in Ireland really struggle with the strict and limited diet. Plenty of research has shown that this affects adherence (how well patients stick to) to the low protein diet as well as protein substitutes, which could in turn lead to a number of health issues. So yes, there might be a treatment that in works just fine for a number of patients, there are also a number who struggle to adhere - so it's not really effective in this group, is it?

    Biomarin, the company who developed Kuvan and recently re-aquired the rights to distribute this 'drug' in Europe, have recently put in a new request with the National Centre for Pharmacoeconomics (NCPE) in Ireland. When a big pharma company makes such a request, it is often the case that related patient associations are allowed to submit a report supporting this request. This is the reason we ran the PKU Association of Ireland patients and caregivers survey earlier this year - we have written up a report underlining the need for treatment options for those who struggle with the current treatment and PKU Ireland should be submitting this soon..!

    Now that I have that (and teaching / marking) off my desk, it's all PhD work for a while..! Recruitment and data collection on my clinical has started and I have just submitted an abstract to a medical conference in Rio 8) later this year on my latest (second and last) online study, which involves completing a short (approximately 15 minutes) cognitive test battery online twice (on two separate occasions). These cognitive tests are a series of computerised tests of mental performance. The tests will assess brain functions such as memory, reaction time, attention and problem solving skills.

    The research has been showing some interesting and novel results, which I am hoping to present later this year. I will keep you posted on the outcomes of the research (as well as abstract submission!).. if you are interested in finding out more about the research and - shameless plug - signing up in the light of PKU Awareness month.. check out this link: leedsubs.eu.qualtrics.com/jfe/form/SV_2aSu5R5EqTqI8ap


    Hopefully I can post something again soon - I'll try to give a quick overview of some new research that has come out over the past few months! If you are interested in keeping up to date with PKU research, you could also check out my twitter, I usually tweet about newly published PKU studies on there (twitter.com/dlhofman)!

    Groetjes!
    Denise


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