Low dose treatment in South Africa


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Dr Rene Heitner has been treating seven Gaucher sufferers in South Africa (5 children and 2 adults) with Ceredase. He has sent the Gauchers Association this report:


My clinic in Johannesburg is running on the South African protocol of 10 units per kilogram of body weight every two weeks and the results have been gratifying.

Most of the patients have become haematologically normal, the biochemical markers are well on the down trend and MRI scans at 1 year show some improvement in the marrow cavity. There has not been a single bone crisis. Growth velocity in the kids has improved dramatically. Nobody has been ill with a Gaucher related problem in almost 3 years.

When I say most, two of the patients have had to be bumped up a bit. Irrespective of genotype (the difference of their mutations), two have increased dosages to 13u/kg/2weeks but subsequently one of these went to America and because of better finances has been given 30u/kg/2 weeks. Of interest her brother is doing well on 10 units.

The Ceredase is given in 100 ml saline and infused over 2 hours. The infusion is done with a very small portable constant infusion device. After setting up the line at the clinic, the patients go to school or to work and disconnect themselves when the container is dry. One patient flies up from Cape Town to get the infusion (a 2 1/2hr flight) and then flies back with the infusion running.

To date there have been no problems. I find this programme user friendly and reasonably effective.

Results

The results are not as dramatic as the ones on big dosages but the regimen does appear to work remembering that many of our patients do not have the tame 1226G (N370S) mutations.

In addition there has been almost 100% compliance. I have only had two appointments missed in 3 years.

I am trying to get Gaucher disease reclassified as a 'National Disease' and to convince the authorities they have a responsibility to those patients.


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Low Dose - what does it mean?

Source: Gauchers News September 2001.
© Copyright Gauchers Association 2001