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16th June 2016
We have received the following exciting update on the Smiles Study from Vicky Jones who is conducting the project:
Dear Peter and Karen,
Many thanks for your on-going support with this project.
We have been making some exciting progress on the mass spectrometry aspect. I’m not sure of how much detail you know about the project so apologies if I explain things you already know:
The children we treat with spinal lipomas at GOSH often have a long period of follow up and assessment before the decision to go ahead with surgery is made. This can obviously be very distressing for the child and family and potentially risks the child developing nerve problems before the decision is made to go ahead with surgery.
We have now identified 10 of these children who have developed symptoms and have undergone surgical resection of the lipoma. We have taken blood, urine and spinal fluid samples in the hope that we will be able to identify some marker of clinical progression amongst this group (if we find this marker we will hopefully be able to use it to identify at risk children earlier). I have just started to run the first set of analysis on these samples this week.
The analysis process is quite long and has a number of different steps. Once we have finished putting the samples through the mass spectrometry machine my next task will be to interpret it. There are a number of different things that we are looking for in the samples which can essentially be divided into proteins or lipids. As it stands we have in place the protocol for analysis of proteins and I am currently working on developing the protocol for analysis of lipids as well – this is a really exciting area and has the potential to give us very detailed information about what is happening within these patients.
To put the analysis in context over 800 lipids have been identified within spinal fluid of healthy people. I am working my way through analysing hundreds of standards (these are pre-prepared lipids of known composition that each have their own characteristic signature on the mass spectrometer). Once I have finished this process I should have a large library to compare our clinical samples with. The task of identifying a lipid that might be unique to spinal lipomas is a bit like finding a very important needle in a haystack but once it has been found once we will know how to identify it much quicker in subsequent tests! Importantly once this lipid library is complete it can also potentially be used to look at a range of other neurological conditions that we treat at Great Ormond Street.
On another note we have also expanded out ethics approval such that we can collect tissue samples from these patients. This allows us to look at specific markers on the cells within the lipomas and will hopefully give us some clues as to where these lipomas are coming from and why they are forming.
Please do not hesitate to contact me if you would like any more information.
Once again many thanks and best wishes
We will keep the site updated with further news when we get it
RIP Carol Wells
Very sadly we lost one of our finest supporters on 12th April. Carol Wells finally lost her battle with cancer. Wonderfully Carol managed to take part in the whole of our walk in September 2014 and this photograph is from then. Our thoughts are with her lovely family.
To date the charity has raised in excess of £130,000, which is a fantastic achievement; a huge thank you to all of our supporters.
Grace would have been so proud.
Here is the latest on the Smiles study. We really hope that this is going to be such an exciting initiative and will provide a lasting legacy for us all to remember Grace by.
Update 27th January 2016
I am glad to say that Vicky Jones, our new clinical PhD student, has started work and is already collecting samples from children undergoing surgery, with the help of Dominic and his team. We are now planning the first set of analyses, to look for a possible biomarker that can predict the severity and clinical course of the children with spinal lipoma. In fact, only yesterday Vicky and I met with Dr Kevin Mills, who leads our mass spectrometry team, to plan exactly how the analysis will be done. We hope to start some analysis on his machine in the next couple of weeks. This will give us a ‘fingerprint’ of the fatty molecules in the brain fluid, blood and urine of the children, so we can see whether there are particular molecules that appear when the child has a lipoma, but not if a lipoma is absent. These will be our ‘candidate’ biomarkers for future study.
We are very excited to be about to get some data, after all the planning, and of course I will keep you informed once we have results.
Update July 2015
We are making progress, and the main work we have done is to get National Research Ethics Service (NRES) approval for the study. This has been an immense amount of work which I have done with valuable help from Vicky Jones (our new PhD student) and Dominic. I have attached the full application form that was submitted to the NRES committee so you can get further information. You will see how many diverse aspects the committee needs information on! The process was nevertheless helpful, as it led to a strengthening of the protocol we will follow (which I have also attached).
The good news is that the NRES committee has now given provisional approval, with a few outstanding questions we need to answer. Vicky and I have drafted our response and that will go to NRES in the next week. I hope that will lead to full approval which means we can then go ahead with collecting and analysing samples.
The next step will be for a small number of samples to be collected from Dominic’s clinic so we can develop the laboratory method for identifying the biomarker. Dr Kit-Yi Leung is a postdoctoral research fellow in my group, and she is very experienced in the mass spectrometry method we will use. In addition, Dr Kevin Mills runs the ICH mass spectrometry service and he will help Kit-Yi with the initial assays. Once we have worked out how best to prepare the samples, and run them through the machine, then we can start the analysis in earnest.
I am keen that Vicky does the main part of the work as her PhD. You will remember she is a trainee neurosurgeon, and we have agreed that she will do some limited neurosurgical work with Dominic, to further her clinical training. However, 95% of her time will be spent on research, and doing the biomarker analysis in the Smiles with Grace project will be her main task. I mentioned before that she is now on maternity leave - her baby was born in February, and she has asked to return to work on 1st Jan 2016. So the plan is that before the end of 2015 we will have some preliminary results on the samples, and then from January 2016 Vicky will be working full time to advance the project as quickly as possible, as part of her PhD.
Smiles Study – Prof Andrew Copp (Professor of Developmental Neurobiology at the Institute of Child Health at UCL) and Mr Dominic Thompson (Neuro-Surgeon, Great Ormond Street Hospital)
‘Spinal lipoma’ describes a group of childhood conditions in which fatty tissue (lipoma) is present from before birth, stuck to the lower end of the spinal cord. This condition is estimated to occur once in every 4,000 pregnancies and can lead to progressive disability as children grow older. Weakness or pain and disorders of urination are commonly encountered because of gradual stretching of the spinal cord during growth. Surgical ‘untethering’ operations are performed regularly by Mr Dominic Thompson at Great Ormond Street Hospital.
Only a proportion of children with spinal lipoma deteriorate and need surgery. Others remain healthy and need no operation. Therefore, surgeons are faced with a dilemma: whether to operate on all children when they are young – and subject many to an unnecessary operation – or to operate later, only if symptoms appear. Delaying the operation in children who deteriorate might mean a worse outcome than if they were operated upon earlier in life.
What is needed is a simple blood or urine test that could be performed on very young children, when they are first diagnosed with spinal lipoma. The test would guide the doctor as to whether the child is at high risk of deterioration, and so needs early surgery, or is at low risk in which case surgery could be delayed and perhaps avoided altogether. In the Smiles Project, we will carry out research with the aim of developing such a test.
Our idea is that fat molecules may leave the spinal fluid and enter the bloodstream and urine of children with particularly severe spinal lipomas. These molecules will be detected using a sophisticated procedure called ‘mass spectrometry’ in which all the different fat molecules are separated out, to provide a ‘fingerprint’ for that particular patient. By comparing children who deteriorate with those who stay healthy, we hope to identify a fingerprint that can predict whether a particular child is likely to deteriorate or not. If successful, the Smiles Project could significantly improve how children with spinal lipoma are managed clinically in the future.