Substrate Reduction Therapy Study for Patients with Neuronopathic Gauchers Disease


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Elin Davies-Pope, Clinical Research Nurse at Great Ormond Street Hospital for Children in London, gives an update on the substrate reduction therapy study for patients with neuronopathic Gauchers disease using Zavesca.


It is a relief and pride to see the sub-strate reduction therapy study for patients with neuronopathic Gauchers disease approaching its sixth month. The recruitment target of 10 patients has been achieved with patients ranging between 2-19 years old at Great Ormond Street Hospital.

The National Institute of Health in the USA has also recruited 10 patients. The challenge of the study has been immense for the families. The number and complexity of the assessments at screening and the lengthy journey to Plymouth has been exhausting for all.

I must congratulate the children and their families for their patience and motivation in completing them. The hard work of many was rewarded only by the disappointment of being randomised not to take the treatment.

All patients not randomised to take the drug in the first year will be offered the drug in the extension year of the trial if the results are satisfactory. However being randomised to take the treatment has bought trials of its own.

As Orasolv (the dispersible version of the drug) continues to be unavailable, swallowing the capsule was a mountain to climb for our younger children. But again the perseverance and determination of our families saw many of the children succeed in this challenging task. Not easy; considering the extreme bitterness of the capsule if accidentally bitten. Positive reinforcement rewards and blackmail seems to be the name of the game towards achieving success.

Swallowing the capsule brings with it the problem of acute diarrhoea. The families must feel like they are only recovering from one challenge when it is time to face the next. I have certainly been in awe of the grit and determination that they show in dealing with each new problem as it comes and all of them still manage to greet me with a smile during their three monthly visits. It is amazing to see.

Let's hope that all their input will be rewarded with promising results. We are a quarter of the way there. For us at Great Ormond Street Hospital, our next goal is to recruit up to five children from Poland, to ensure that we meet our overall recruitment target world-wide of 30 patients. The biotech company Celltech has finalised its takeover of Oxford GlycoSciences and we are now developing an excellent working relationship with their team which will ensure the basis of a successful trial.


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Source: Gauchers News March 2004.
© Copyright Gauchers Association 2004.