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Many important questions were posed to Dr Ed Wraith and Prof Timothy Cox by members of the audience and it was apparent how knowledgable many of the families were:
Q: Is it bad for a patient to interrupt enzyme replacement therapy?
A: Both doctors agreed it is bad to have treatment interrupted for long periods - even a two months break is bad for children and adolescents. It is OK to stop for holiday periods but not for longer than a few weeks.
Q: Is it better to have enzyme replacement therapy as high dose/low frequency or low dose/high frequency?
A: Dr Wraith said it is better for children to have high dose/low frequency, not because of strong science to support this but because it is better for children to have less frequent infusions. Also if children have a potential for bone disease, he would opt for high dose.
Prof Cox agreed completely but added that it is theoretically more efficient to give enzyme therapy more frequently, especially if there was a limited amount available. However complex issues have to be taken into account in the treatment of each individual.
Q: If the new drug OGT 918 is found to be effective, would it be used alongside enzyme replacement therapy or instead of it?
A: If it proves effective, it might be best used in combination with Cerezyme, for example in Type 3 disease. Alternatively it might be possible to use it on its own and it might ultimately be used to reduce the duration or dosing of enzyme therapy.
Q: Can children and adults participate in sports?
A: Adults should avoid motor racing and skiing and should take special care when driving to avoid accidents - four individuals with Gaucher's disease in the UK are known to have been badly injured in car accidents.
Children should avoid contact sports like rugby, karate, kung fu, judo etc especially if they have an enlarged spleen.
However in general we would encourage everyone with Gaucher's disease to lead as full an active life as possible.
Q: Is Fosamax (alendronate) more effective given one month on, one month off?
A: Prof Cox replied that he had no knowledge of any benefit of intermittent therapy.
Fosamax is given for three years in osteoporosis. It probably will have no effect on necrosis (death of the bone) but is given for osteoporosis to thicken and remineralise the bone.
Didronel (etidronate) may reduce bone mineralisation if given for more than 90 days at a time. It is now always given in cycles of treatment that alternate with calcium supplements.
There is little experience of children being given bisphosphonates and Dr Wraith said he would be shy of giving it although isolated case reports of the use of injected Pamidronate in severe bone disease in children with Gaucher's disease have been encouraging. This has been reported by Dr Bruno Bembi in Italy.
Q: Some patients in Israel have had a hole drilled in their bones to relieve pressure during a painful episode. Would this be recommended?
A: Prof Cox said there is no proof that 'relieving the pressure' is in any way useful and he would be reluctant to carry out this procedure because of the risk of infection. He knew this was carried out by experienced and enthusiastic surgeons on some patients in Israel and USA and he would wait to hear their results. Properly controlled trials are essential to evaluate this sort of measure, as with all treatments that are invasive or carry out appreciable operative risk.
Q: Does Gaucher's disease affect more women than men?
A: There is no evidence to suggest that more women are affected than men. Perhaps women talk about their condition more readily than men and are more willing to consult a doctor. Prof Cox said it is worth noting that without treatment the condition does deteriorate somewhat during pregnancy and this may explain why slightly more women come to the attention of the medical profession. (Editor's Note: The Association's membership is roughly 55% female, 45% male).
Q: What is the cost of Cerezyme?
A: Julie Kelly of Genzyme Therapeutics said that each 200 unit vial (bottle) cost £618.
Q: Will the price be reduced?
A: Martin Cortvriend of Genzyme Therapeutics replied that there was no immediate plan to reduce the price but there may be in the future.
Herbert Levy, President of the Brazilian Gaucher's Association, who travelled to the UK with his wife Tania to attend the Conference said that they have had a long fight to obtain enzyme replacement therapy for their son and other sufferers of the disease in Brazil because of the cost of the drug but it was better having the drug than not having it. 153 patients were on treatment in Brazil.
Patients and their relatives formed a big family around the world and this made them strong. He thanked those who made the drug - his son started treatment in 1992.
Source: Gaucher's News July 1999
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© Copyright Gaucher's Association 1999