Smiles sponsors GOSH/Institute of Child Health research project

Beneficiaries 2011
4th May 2018
4th May 2018

UPDATED 28th JULY 2015


The exciting news is that after six months of bureaucratic time-wasting we have finally dotted the ‘i’s and crossed the ‘t’s on the project to develop a bio-marker for monitoring the clinical outcome in children with spinal lipoma and we met with Dominic Thompson and Professor Copp on 14th October. We are the sole sponsors of this exciting, £58,000 initiative. Here, in layman’s terms, is what we are funding:

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.

Her is an update from the Professor

Dear Peter and Karen,

Many thanks for your email – it is good to hear from you.  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 (please contact the charity should you wish to see this and the other attachment).  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.

Please do let me know if you would like any further details.  Many thanks once again for your valuable support and continuing interest.

Best wishes,


As you can see progress is being made, albeit at NHS pace; we will keep the website updated with further news.