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