Monday 26 October 2015

ESPKU Conference, Final day - Part 3

PKU in the next decade
Speaker: Prof. Harvey Levy

The therapy for PKU works to reduce the Phe level in your body.
We are now looking at the two ways of treating PKU, diet and co factor.

Diet
- is the standard response to the disorder of PKU
- it applies to all PKUs

Co factor (Kuvan, PEG-PAL etc)
- usually works on mild/moderate PKU's
- only rarely works with Classical PKU's



European study showed that when PKUs were treated with Kuvan
Very mild PKU's out of 178 tested, 77% were almost certain to respond
Mild PKU's out of 112 tested, 44% around half responded 
Classic PKU out of 267 tested, 6% responded meaning barely any responded.



So what was learnt was Classic PKU's rarely responded and even when they did respond, complete response is very rare. 
Most responders have mild PKU so do not even need treatment to begin with.

PKU treatment in 2025 we can predict: 
Diet will still be here
- Co factor
 - Kuvan will still be here
- Alternative enzyme therapy - peg pal
- Enzyme replacement therapy - maybe?! 
- Gene therapy - ?
- Gene editing - ?

In more detail: 
Diet
- will it be needed? Properly - some may still prefer diet compared to drugs!

Cofactor (Kuvan) 
- it will be there 
- Will be preferred with those completely or almost completely as this will be the only alternative that can be taken orally, others you'll have to inject. 

But the main point is in 2025 you'll have the choice!

Alternative enzymes therapy 
- will it be available? Yes!
- May be replaced by the real enzyme therapy 
- they may give a form of the enzyme replacement

Peg pal 
Metabolises Phe in a different way, it creates NH3 and trans-cinnamic acid
It does look very promising and will hopefully be approved within the next couple of years


"Real enxyme therapy"
Like current treatment for the lysosomal disorder - gaucherie disease 
It will reduce the phenylalanine hydroxylase 
The problem is phenylalanine an unstable enzyme outside of the body.
They have not yet been successful in stabiling it outside the body, so it can not be put into a test tube so it can be replicated and injected into the body. 
In the next few years it could be stabilised to then it could be replicated and fabricated.
So what will happen is the future is that we'll be able to replace the mutated enzyme with a working enzyme.

Gene therapy
It's been talked about for 20 years, but there is still no ability to replace the mutant gene 
- There will still be no safe gene therapy 
- It has to produced as a virus so w have to know it is safe before we do it 
- it is Improbable this will be there in the next 10 years

PAH gene editing
This is an exciting prospect!
This can be used for editing the gene mutation in the body by putting it back to the normal state. 
This process is called CRISPR. 
The process of this that is a nucleus that cuts into the gene. The NRA guides the cutting protein to the proper portion of your DNA where the mutation is located in the DNA it then allows the nucleus to cut into that point it separates the double DNA then it injects the normal base into your DNA. You change the abnormal mutation in the gene into a normal gene. 
If you imagine it is like editing a book, you are replacing one letter in a whole book to make the book work.
Will it be available in 10 years time?! Maybe!

2025

- Diet will still be present
       - for who? The first 2-4 years diet will still be on diet.
       - adolescent and adult years will be trying out alternative therapies

- Enzyme gene therapy 
       - Will not be used in the first years of life.
       - After ages of 2-3-5 therapy can be used.

Gene editing if it is safe and effective then it can be used by everyone of all ages!

"50 years I have been involved I've never seen a more exciting time for the treatment for PKU."

What really excites me about all these talks about the future of PKU, isn't just the potential of new treatments, the personalisation of the diet and the growing of social media to reach new people and different counties. It's the fact that these scientists, dietician and other professionals are still working hard every day to make a better life for PKU's. They aren't giving up, they aren't just happy with an 'okay' diet. They want the best for us and they are always looking for new ways to make our lives that little bit easier. Most importantly they have given me hope, hope for the future and hope that maybe one day I will be able to live my life everyday without worrying about my next meal. 




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