Patient Registries

Hi all, This is my first time on. My son has DMD. We live in Australia. My wife & I adopted our two beautiul children, (brother & sister) from Ethiopia in 2007. Our hearts sank for our son, when we arrived back home with them and had him tested for an unusual walk pattern, then found out he had DMD. As if he hasn’t been through enough at age 6. As with everybody else in this situation we too are very excited about the Exon jumping trials and our prayer is that soon they will be made available for all. I wanted to ask and find out when the Phase III testing is done Internationally if Australia would be involved and if so how we could register?
Many Thanks and a high spirited greeting to all.
Konrad (Dad).

Hi Konrad,

Welcome to the forum (I’m originally from Australia so an extra big hello from me!). And a big plug to the researchers in Perth, Australia (Steve Wilton etc.) who did a lot of the preliminary work to develop exon skipping!

First of all, your post has arrived in the wrong area for some reason, but hopefully one of the administrators will move it to the right thread shortly (the exon skipping news).

AVI Biopharma plan to do one more small study testing higher doses of the molecular patch in the US, starting very shortly. Then it will be on to a phase 3 study, we don’t know any details of what they are planning yet but it will almost undoubtedly be international. It would be necessary to get enough patients enrolled.

I don’t know if you heard, but two other companies (Prosensa and GSK working in partnership) are already in phase 3 clinical trial with their molecular patch for exon 51, but using a slightly different chemistry. They are already testing in 16 countries and planning to add perhaps 2 more. No mention of Australia or the UK yet unfortunately. You can read about the locations of this trial here:

http://clinicaltrials.gov/ct2/show/NCT01254019

Our lay summary of the trial is here, but we need to update the locations:

http://www.muscular-dystrophy.org/research/clinical_trials/258/Duchenne+muscular+dystrophy

GSK and Prosensa are however doing a clinical trial testing some different doses of their drug in Australia (NSW and Vic), the UK and 6 other European countries.

http://clinicaltrials.gov/ct2/show/NCT01153932?term=GSK2402968&rank=2

and

http://www.muscular-dystrophy.org/research/clinical_trials/259/duchenne%252Bmuscular%252Bdystrophy

We don’t know which molecular patch will get on to the market first or which will work better, so we will watch both with great interest!

Now, the important thing for you to do is register your son on the DMD registry, which was only launched in Australia at the end of last year. The information you need on how to register is here:

http://www.ann.org.au/news/launch-of-australias-first-dmd-registry/

The thing to remember is that the molecular patch will only work for about 13% of boys with Duchenne, because it has to be tailored to the particular genetic mutation. More patches will be developed if this one proves effective.

Hope this helps,

Any more questions, fire away!
Kristina.