New drug for symptom control presented at symposium

Sharing information at the symposium is what it’s all about. Today, Randall Kaye, chief medical officer from Avanir Pharmaceuticals, chose the symposium to give a presentation on a newly approved FDA drug for emotional lability (uncontrollable laughter and crying) called Nueudexta. Emotional lability is a symptom that is experienced by some people living with MND.

Nuedexta is actually a combination of two drugs, dextromethorphan and quinidine, that are already quite well known. In a clinical trial involving over 300 people with MND or multiple sclerosis, Nuedexta was found to significantly reduce the frequency and severity of episodes of uncontrollable laughter and crying. As Nuedexta has recently been approved by the FDA, this symposium gave Avanir Pharmaceuticals the opportunity to provide delegates with an overview of Nuedexta and guidelines on how it should be used.

We have been told by Avanir Pharmaceuticals that talks will begin with the European regulatory authorities in 2011. It is not yet possible to say when Nuedexta will be available to people with MND in the UK.

We will keep you posted as soon as we hear developments on the availability of this drug in the UK.

Learning about genetic messages and their potential role in MND

Talks on RNA biology are new to the symposium this year as it is the newest puzzle piece to the expanding list of possible cellular causes of MND.

So why is RNA biology important to MND and what is it all about? RNA stands for ‘ribonucleic acid’ and plays a vital role in the creation of proteins that play day-to-day roles in our bodies. Two MND causing genes – TDP-43 and FUS, have been found to have a role in the processing of RNA and so understanding more about the link between these genes and RNA processing is of growing importance in order to find out more about the causes of MND.

So what does RNA processing mean? Our genetic code is over three billion letters long and holds the instructions for how to build everything in our bodies but in this form, it’s nonsense. ‘Editors’ are a type of RNA processers and are needed to copy and ‘tidy’ short sections of code to produce instructions that can then be used to build new proteins. This session was therefore dedicated to our growing understanding of how TDP-43 and FUS may be involved in RNA processing and how this may be affected in MND.

The first talk was given by one of the researchers that we fund– Prof Tom Maniatis from Colombia University in America. In his talk, he gave an enthralling overview of his current study to develop a human ‘in a dish’ model of MND following the success of a recent ‘proof of principle’ study in mice. This new and exciting method of studying live human motor neurones and support cells called ‘glia’ uses stem cell technology to ‘turn back the clock’ on skin cells donated by people living with MND. 

In his current study, alongside Prof Chris Shaw from King’s College London and Prof Siddharthan Chandran from Edinburgh University, Prof Maniatis is studying the effect of a ‘sandwich’ of glia and motor neurones on the amount of proteins being made. The preliminary results from the human study have found that there are hundreds of other genes that are found in higher and lower quantities than normal in motor neurones as compared to healthy motor neurones. Of these, a large number are involved with many different processes that are known to be involved with the degeneration of motor neurones. These findings are still preliminary as the study is ongoing – but it’ll certainly be interesting to find out more in the future!

As the session continued, we heard from a number of speakers who are also working to find out how TDP-43 is involved with RNA processing and how this causes motor neurones to degenerate.

The ‘take home’ message from these talks is that we are learning more about what TDP-43 interacts with through its role in RNA processing, and we are now moving closer to learn how it can cause MND.

Standing room only at the opening session of the symposium

Standing room only at the symposium

The International Symposium on ALS/MND has now begun! As researchers, clinicians and health and social care professionals from around the world came together in the opening session, the room began to buzz with excitement and anticipation for this year’s three day conference to begin. Most were lucky enough to grab a seat, but as all delegates filtered in, it was standing room only!

Our appetites for learning more about recent advances in clinical and scientific fields of MND research was soon whetted by the first two speakers of the symposium who were given the honor of addressing all 820 delegates.

The importance of understanding TDP-43

The first talk was about TDP-43. TDP-43 is one of the biggest breakthroughs in MND, not only because faults in this gene were identified as a cause of inherited MND, but also the TDP-43 protein (coded for by the gene), was found to clump together in the majority of cases of the disease. This means that TDP-43 may play an important role in all forms of MND and so, learning more about it may unravel some of the mysteries of ‘what causes MND’ .

Normally, TDP-43 is found in a cell’s control centre (nucleus) where it helps to ‘edit’ complex genetic instructions, making them more readable for the cell’s protein-building machinery. Virginia M-Y Lee from the University of Pennsylvania who gave the talk described some of the knock-on effects that occur in motor neurones when TDP-43 goes wrong.

In MND, TDP-43 appears to be lost from the nucleus and accumulates in characteristic clumps in the main body of the cell. By studying a special mouse model, Prof Lee’s team was able to investigate the consequences of TDP-43 not being in the nucleus to perform its usual job, including changes to the way that parts of the genetic code were read.

 As a number of neurodegenerative diseases are generally characterized by clumps of different proteins – ie MND is TDP-43, Alzheimer’s is Tau etc, then learning about how TDP-43 can cause MND may shed some light on other diseases too.

 Gathering evidence to improve care 

To complement all this intricate science, Prof Bob Miller whetted the appetite of the healthcare professionals in the audience by discussing the most recent care practice guidelines for MND issued by the American Academy of Neurology. These guidelines are based on evidence from healthcare research and aim to advise neurologists and other professionals on the most helpful approaches to caring for people with MND.

 However, as Prof Miller pointed out, there are plenty of gaps in the evidence and this presentation was something of a call to action, highlighting where work really needs to be done in areas such as when somebody living with MND should start NIV, what the effects of a high fat, high calorie diet is on somebody with a PEG, and whether riluzole has a longer benefit than suggested through original clinical trials.

What struck Jane Connell and Kevin Thomas, two of our regional development care adviser helping me to report from this year’s symposium, about this talk was that from 1980 to the present day, we really have and continue to move forward towards a deeper understanding to fill in the gaps of our knowledge on care issues. There are a lot of challenges yet to be faced but we are at least moving in the right direction.

One day to go: Poster session set up

As the symposium grows ever nearer, the daunting task of setting up the poster session was upon us.

As we entered the poster room this morning we were met with a blank canvas of 100 empty poster boards, each of which are capable of holding four posters. With a deep breath, we mentally prepared ourselves for the task ahead – to label each board with a poster number in a logical order and to separate each board in half. With seven rows of poster boards filling the space of half a football pitch, this certainly wasn’t an easy task. After a few hours of Belinda, Sadie, our helpful volunteer and myself had finished sorting out the order of the 295 posters that are going to be presented at this year’s symposium –which were met with a few ‘hiccups’ along the way – our mammoth task was finally complete!

This may seem like a small victory, but it’s vital to make sure that the 13 different themes to be discussed through posters are easy to find to create a smooth poster session with a lot of discussion and debate. Hopefully symposium delegates will agree!

With less than 24 hours to go until the International Symposium on ALS/MND begins, our excitement is growing as more and more delegates fill the halls.

The next three days will be jam-packed with news and views and I hope you will enjoy reading our blog to take you behind the scenes of the symposium.

The honeymoon is over for stem cells!

We arrived in Florida yesterday evening. This morning it was a case of getting to know where everything is – I can tell that we are going to be getting our daily exercise just by walking from one end of the hotel to the other! As the day gradually warmed up I resisted the pull of soaking up some sun (having left the UK with forecasts of yet more snow… !) and attended some of the talks at the International Alliance of ALS/MND Associations “Ask the experts” session.

 The talk I was really keen to hear was Nicholas Boulis’ presentation on “Spinal cord surgery of ALS – human neural stem cell transplantation”. Dr Boulis is a neurosurgeon who has worked in the field of ALS/MND for seventeen years. He has spent this time developing techniques for spinal cord surgery. He had a fantastic, easy to understand presentation style, which made it so much easier for the audience to understand the technical details he was describing.

There are many different types of stem cells that exist – ranging from embryonic stem cells right through to endogenous stem cells. Embryonic stem cells are the stem cells that can turn into literally any cell in the body. On the other end of the scale endogenous stem cells are stem cells that exist in the adult body that are dormant.  Dr Boulis gave an eloquent description of each type, explaining that at the moment ALS research is concentrating on pluripotent cells (in the middle of the two types of stem cell described above) – cells that have decided roughly which tissue they are going to turn into, but not specific to the cell types within that tissue. Hence the title of his talk – using neural stem cells, stem cells that know that they are going to turn into neurons of one type or another.

There have been a number of studies conducted in rat models of ALS that show the potential of stem cells to treat the disease. However, Dr Boulis commented that these studies reflected the honeymoon of stem cell research into MND. “As we move from taking things that work well in the rat to humans, the honeymoon period is coming to an end and things will start to get sticky” he commented. “ It’s going to be a long haul. Right now we are trying to prove that the stem cells are not dangerous, rather than be able to show that they are beneficial”.

Dr Boulis talked about some of the pitfalls to look out for during stem cell surgery. For example, it is important to avoid applying too much pressure to the spinal cord, to be careful of the volume of fluid that is injected and the speed of the injection. These are exactly the type of things that Dr Boulis has been studying to get it right. He described a fascinating series of experiments conducted in pigs. The studies began by using microelectrodes to work out exactly where in the spinal cord the needle should be injected.  I learnt that the human spinal cord is 6mm long and 8mm wide. The area that stem cell surgery should target is 2mm square. He talked about designing the mechanical apparatus that holds the syringe, to the need for a flexible syringe. Again, more fascinating facts – did you know that the spinal cord moves when you breathe and when your heart beats? Hence the need for a flexible syringe, to move with the cord.

After perfecting the techniques in pigs, the next step was to try these techniques in humans. The Neuralstem trial investigating the safety of giving stem cells into the spinal cord is currently underway in the USA. The study was designed as a ‘risk escalation’ rather than a ‘dose escalation’ that would be the basis of a drug safety study. The first group of patients were not able to walk and received injections of stem cells in one side of the spinal cord only; the next group were not able to walk but had stem cells injected into both sides of the spinal cord. He explained that these patients had some pain, but that this was transitory and the longest period of pain was three weeks. The next group of patients are those that can walk before the surgery – this is the current status of the study. Two patients have taken part so far, having had stem cells injected into one side of the spinal cord only. Both patients have walked out of the hospital after the surgery. For those wanting to know even more technical detail, when he said ‘one side’ he meant five injections of 10 microlitres each (to give you an idea of scale, a teaspoon can hold 5,000 microlitres). He explained that the Neuralstem study would be following the participants for life. At the end of the study, the lessons learned will pave the way for many stem cell studies currently in the pipeline. They may also have a wider application for delivering more conventional drugs too.

I thoroughly enjoyed this presentation and I learnt a lot! Roll on the Symposium to feed my enthusiasm for learning more about how we are all striving towards a world free of MND.

Greetings from Orlando!

Fortunately, our flight over here was plain sailing, with no delays due to weather. However, with two of our group being nervous flyers, this didn’t matter!

On our arrival to the hotel (which is magnificent!) we had a walkthrough of where the conference rooms and poster presentation room will be held in. The poster presentation room made our jaws drop as it’s as big as a football pitch.

Although we are still settling into our surroundings, the 18th Annual Meeting of the International Alliance for ALS/MND Associations (of which we are a member) has already been and gone. The figures are yet to come in, but the feedback is that it was a good turnout – a really successful two-day meeting with over 80 delegates from members of the Alliance from across the world.

Steve Bell, who is one of our care directors, represented the Association at this meeting. He also gave an overview of our latest awareness campaign –
Incurable Optimism – which in Steve’s words “went down a storm”.

After seeing Steve this lunchtime when the meeting had formally finished, he told me that that the closing thought for this year’s event was quite simply “let’s all be incurable optimists worldwide”.

This is a fantastic ending for the International Alliance meeting and really sets the tone as we approach the symposium.

The symposium kicks off on Saturday, and until then, it’s all hands on deck to make sure we’re ready for the hundreds of delegates who will be attending to talk solely about MND – which is just what we like to hear!

Countdown to the symposium

We organise the International Symposium on ALS/MND every year and it is regarded by the global MND research and healthcare communities as the conference to hear about and discuss advances in their respective fields.

In two weeks time, we’ll be in Orlando, Florida making our final preparations for this years’ three day conference that begins on 10 December. As all of our equipment has been shipped to America ahead of our arrival, I’ll be keeping my fingers crossed that it’ll all be waiting for us at the hotel!

I’m sure with less than two weeks to go, delegates of the symposium are also reaching their final preparations, such as finishing off their posters (maximum of 1metre square), preparing their speeches and trying to work out a ‘to-do’ list of things they want to achieve at the symposium – such as meeting a researcher they’re interested in collaborating with, or simply to learn more about a new topic. Once we arrive in two weeks time, we’ll be setting up the order for the poster session. With nearly 300 posters split into 11 themes this isn’t going to be an easy task and will be a rush against the clock to finish before keen poster presenters sneak into the poster room to put up their work for all to see. Until then, it’s a waiting game for everybody where we’re all eager for the symposium to begin on 10 December.

This year, I will be blogging from the symposium to keep you up-to-date with our highlights and insights. To help me report on the clinical sessions at the symposium are Kevin Thomas and Jane Connell, who are our regional care development advisers for North Wales and East Midlands respectively.

We’re extremely excited to be reporting via our blog this year and we hope that you will enjoy reading our posts on the highlights and insights from the International Symposium on ALS/MND from 10-13 December 2010.

Symposium update: first read complete, programme now available!

This week has seen a whirlwind of activity – and saw what seemed like never-ending rain, for Northampton at least! But as the week is drawing to a close, the sun has made a guest appearance and we’ve made headway with planning for the symposium which is now less than four months away.

For the past few weeks Kate, Belinda and I have been proof reading. After the first download of the abstracts, they were split up into the different topics, put into a logical order and proof read till our eyes were sore and our brains were numb!

For those who want to know how much reading this really is: the first ‘draft’ version of the abstract book comes to 392 pages, 137,921 words and holds abstracts from 26 different countries.

We finished the first proof reading all the abstracts this week and pressed the ‘send’ button with some trepidation! Luckily the files were received from the publishing company and are now safely in their hands for formatting.

It was all worth it in the end as the first proof read is now complete. All in all, we’ll proof read a total of three to four times over the next few months before the last abstract book is shipped to Orlando ready for symposium delegates.

This week we’ve also published the programme for the symposium which details all the talks that are going to be given at the symposium. Have a look and let us know which ones you think sound the most interesting!