Archive for 9 April 2012
2012 NCL Conference
9 April 2012
Here is a download on the 2012 Neuronal Ceroid Lipofuscinoses Conference that I attended in London last week. This conference takes place every 2-3 years at a different place (the previous one was at Hamburg in 2009).
First, this was the best attended NCL conference ever; almost 200 clinicians, scientist and members of patient organizations. As for families, another 50 attendees showed up (many bringing their affected kid).
It was also a bit of a reunion for me to meet up with parents, scientists and members from patient organizations that I got to know so well over the last couple of years since we commenced our LI-NCL journey….It was also great to meet new people that have entered this field trying to make a difference.
The conference lasted for four days in total and the topics were (amongst other things):
- · The genetics and biology of the NCL
- · The disease mechanism
- · Links to other diseases
- · New clinical perspectives
- · Experimental Therapies
All these things are important, but obviously the visiting parents were mostly interested in the experimental therapies that can provide help sooner.
The most important takeaway from the sessions with regards to the experimental therapies was that BioMarin (an US based biotech company) announced that they will start a clinical trial in about a year from here (Q1 2013). They have been diligently working on ERT (Enzyme Replace Therapy) for a while now. And after some very favorable experiments last year, they felt confident that they had developed a delivery platform that will significantly slow down the progression of the (LI-NCL) disease. Obviously this is very encouraging news! In particular after the StemCells Inc (another US company) stopped their second stem cell trial for LI-NCL last year (before it even started) and after it has become clear that the current Gene Therapy Protocol from Weill Cornell will probably prove out to be insufficient to defeat this disease.
Of course it remains to be seen to which extent the ERT solution will be a fully and permanent fix. It’s likely that we will eventually end up combining several therapies; gene therapy, stem cells, ERT and some neuroprotective drugs to conquer this disease. At the conference was also some research presented that seems to indicate that a combination of therapies provides important synergies and therefore might eventually become the way forward. However, organizations like the FDA (and their foreign equivalents) are often hesitant to approve combination of therapies at this point in time. Which implies that for the time being, ‘single therapy approaches’ will be the option of choice.
Besides this, it is good news that the CLN2 affected community is considered interesting enough (even though it is a borderline case) by some ‘for profit’ companies to throw some resources at it if a compelling therapeutic approach presents itself.
Fortunately dr Steven Gray from UNC whom we fund, also got a slot to present his science and compelling results. I think it became clear to the audience that the UNC (Jude Samulski Lab) has developed a pretty unique gene therapy delivery platform that is the least invasive of all the therapies I have seen so far. Now that we have developed a gene delivery platform that seems to be able to ‘touch’ all parts of the brain, we need to move on to the next level; find out if it also can treat affected cells and stop (or significantly slow down) the progression of the disease. To accomplish this, we are planning to hire a dedicated post doc (PHD student) in the lab who will spend 2 years running a large number of tests. If that works out well, we can start our conversations with the FDA about a clinical trial (and try to engage the NIH and/or a biotech company to do part of the funding of such a phase 1 clinical trial).
Importantly, this very delivery platform will likely be used for another rare (genetic) disease in the next year or so. This will hopefully further endorse the potential of this therapy.
To continue to fund this promising work, we once again need your help. I am appealing to you now to support this research that can help us get closer to eradicating a disease that continues to rip lives apart. We have come too far to stop now.
9 April 2012
It’s been awhile (yet again) since we wrote an update. No news is good news I guess. Things have been pretty quiet and stable and that’s the best thing you can ask for in our lives at the moment. Jasper has been doing reasonably ok. He has quiet periods that sometimes seem to last a little longer but most of the time he is still the happy boy he has always been. He’s still able to communicate somewhat if you take the time to notice the subtle signs. He laughs when he’s ok and uses smiling too to ’say’ yes to a question. He cries or moans when he’s unhappy or uncomfortable. But sometimes he will tell us ‘out’ in Dutch when he wants to get out of bath, bed or wheelchair. And he will say ‘faster’ in Dutch when he wants to be pushed faster when we take him for a walk.
Now that spring is in the air and the weather has been really nice here recently, he gets out a lot and enjoys the outdoor sounds; kids playing, builders working and animals in their enclosures. There are many kids playing outside and sometimes they take the time and come over to Jasper to ask what happened to him and the younger ones make conversation with him. He talks back in his own way and all of a sudden a very special and almost ‘normal’ interaction takes place. Those moments are so precious. Those are the really important things in life now. The things that really matter.
We now have Roeloffien joining the team and together with Cobie and Marije, she is helping us to keep Jasper happy and engaged and fill his day with meaningfully activities.
We have fitted a new wheelchair for him since the old one just isn’t giving him the right support anymore. Hopefully, it won’t take too long before the new chair is ready so we can keep up with his growth. And since he’s growing so fast, we are already going to fit the second pair of ‘made in Holland’ braces. After waiting for almost 5 months we will finally receive the chair Jasper can use in the home next to the wheelchair. Because he can’t adjust his sitting position himself, it’s important for him to keep changing his position and different kinds of chairs help a great deal with that. And he can sit with us at the table and be part of the family at the same height when we have dinner.
Next to the chair, we are ordering a bed- box as the call it. Sort of like a day bed but with a safety rail attached. So he can relax or sleep while staying with us in the living room. We always used a small swimming pool filled with big pillows but he has outgrown that too. Plus, it’s too low on the ground for us to pick him up without seriously hurting our backs.
It’s a continuing story – adjusting the products we need so we can care for him as well as we can. Probably sounds weird but it feels like yet again the ending of a phase. Getting rid of that swimming pool that has been sitting in our living room for almost two years and has been providing a safe heaven for Jasper to play, relax and now lay in.
Jasper continues to have a good time at ’school’ as we still call it. I get a big smile when I tell him in the morning we are off to school. This month they had a traveling petting zoo in school and Jasper was able to pet a huge rabbit. It sat on his lap and he was even touching its fur. That’s very hard for him since he lost the ability to use his hands. But he can still scratch his fingers so that’s what he did. The teacher told me that when they had to bring Jasper indoors (because it was getting too cold) and took away the rabbit, he was clearly not amused. He also loves the interaction with the kids from the regular program and went on a visit to their room a while ago. He greatly enjoyed the music activity they shared.
So much for an update about Jasper. Bou has been to ‘the global NCL2012 conference’ in London last week and will share the details in a different document.
We are rethinking how to take fundraising to a higher level and brainstorming on new ideas to get going again. In the mean time, Jolanda again chose us again as her charity during ‘the four day walk’ (that’s walking around 40 km a day, mind you). Thanks so so much Jolanda for keep going strong for Jasper Against Batten. If you are interested in supporting us through Jolanda by sponsoring her, go to the link on our home page!