making muscle wasting history

Here is a quick resume of the day.

After meeting in Central Hall we had a noisy march upto Richmond House home of the Health Ministry. "What do we want ? MUSCLES. When do we want them ? NOW."
Petitions were handed into the Minister for Health and delegations went to Downing St and the Ministry of Transport.

We then moved onto Parliament to lobby our MP's. My MP did not turn up ! But in fareness he did phone me later on in the day and invite me to a constituancy meeting. However I did get to speak to my mum's MP !

A number of MP's did meet with DMD families and have pledged to ask questions in Parliament and to the Health Minister. For those who have questions please send then to Nick Catlin.

We then moved back to Central Hall for a lobby meeting. There were a number of speakers.

Dave Anderson MP, Chair of the All Party Muscular Dystrophy Group of MPs, spoke about the importance of the work we do as families. Keeping DMD on the minds of MP by continued lobbying and contact with MPs. He also stated that the healthcare postcode lottery we all live in is so unfare and this must be addressed.

Nick Catlin spoke about the need to keep the reasearch going. Action Duchenne are lobbying to try and get money ring fenced and the possibilty of getting DMD put under the care of specialist commissioning. He also talked about DMD care in Denmark where DMD boys live to become men into their 30's and 40's not because any different medication but because they use a care model much nearer to the international care standards. Which bluntly put means that adopting the care standards means 10-15 more years for our boys.

I spoke about the state of things here in Wales and about the new care standards from a parent perspective. Take the care standards document to every meeting you go to and refer to it as the level of care you expect. This must be seen as the standard. If you do not have a copy please contact AD head office and they will send you out one. If your clinician does not have a copy you can do the same for them.

Dr Karen Rafferty spoke about the care standards in more detail and the family friendly version.

All DMD families need to take this document with them to every meeting and refer to it as the care expected and not some pipe dream !

Dr Matthew Wood from Oxford and MDEX spoke about the current and on going trials and new therapies.
A lot of this will not be new to you.

PTC 124 Whilst results were no as expected he thinks that this will still prove to be a usefull drug for treatment for some pts.

Utrophin up regulation is still some way off but safety trials have now started.

Exon skipping. Currently two main approaches PMO and 2 O'Methyl. (ProsensaGSK and MDEX/AVI.)

He has seen Prosensa results and they look promising and he awaits the full write up which comes out later this year.

MDEX/AVI studies to date show good safety and there have been reliable results shown in the muscle studies.

10+20 mg/kg groups both showed exon skipping. There is some variablilty seen but in some candidates there has been a 50% positive fibres. (This is different to the % of dystrophin.)
Current thinking is that variation may be because of age and that perhaps exon skipping should be considered in younger boys ! It may be because of other factors which need some further investigation.

The MDEX/AVI teams have a meeting this month to decide which way forward. He hope these new studies will be launched with in the next few months.

Further work may include:

Larger Exon 51 trial needed. Bigger group, bigger dose, longer time.
Giving everyone on the current trial the 20 mg/kg dose.
Giving non ambulatory boys the drug.
Working on different delivery methods. (See below.)
Targeting different mutations.

New delivery peptides that have show to be useful in mice models. For example:

MSP-PMO which following 6 doses showed 100% delivery to all muscles except the heart.

PiP Se-PMO which following 1 dose showed 90% delvery to all muscles including the heart.

His overall feeling is that they need to get Exon 51 to the market to pave the way for further exon skipping work.

He said that he sees a 2-3 year time period to getting current Exon 51 drug to market including future trial work.

He was much more positive than when I saw him speak last year.

Interestingly at this meeting and at the previous care standard launch there have been representatives from GSK there.

All in all it was a good day.

If you think of questions for Parliament or the Ministers please forward them to Nick Catlin.
If you need further copies of the care standards document contact AD.

Cheers JB