Medical Reports from NGF Conference, Philadelphia


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The National Gaucher Foundation (NGF) held its Fourth International Conference in Philadelphia on 6-7 November 1994. Many distinguished medical experts took part and highlighted are some of the topics discussed. Report by David Lewis. Susan Noe also attended and her report on children and growth patterns is published opposite.

Bone Improvement
Dr Norman Barton, National Institute of Health (NIH), Washington, reported on a trial of Ceredase for the treatment of bone disease: 'In summary, these data indicate that the skeletal response to enzyme replacement therapy develops slowly but is striking after three and a half years of high dose therapy. The first responses to treatment occur in the bone marrow. The mineral phase of the skeleton also responds to treatment. The latter occurs more quickly in children than in adults.'

He said that clearly, it is imperative to initiate therapy early when bone manifestations are first discovered, since delay increases the risk of joint collapse and slows the process of skeletal repair and improvement. All children with skeletal involvement, even those with mild manifestations, should be treated (with enzyme) so that they achieve a normal peak skeletal mass as they enter adulthood.

Having noticed that his original sample were all below average for calcium and vitamin D, he has started research to discover whether calcium and vitamin D tablets can enhance the efficiency of the enzyme, or even help bone involvement without the enzyme. (Editor's note: There is no reason why patients with bone involvement should not ask their Doctors about vitamin D and calcium supplement - but it should be monitored by blood tests as high doses of vitamin D can be toxic.)

Type 3 Gauchers Disease
Dr Roscoe Brady, National Institute of Health (NIH) described the course of Type 3 Gaucher disease which has neurological symptoms (most UK patients have Type 1 which does not). He suggested that this should be divided into Type 3a which are mild cases and Type 3b which are severe cases.

Dr Edward Ginns (NIH) suggested that a second gene defect may be responsible for neurological symptoms.

Type 2
Dr Gregory Grabowski reported on a Type 2 patient who had been treated with Ceredase from birth but had died aged 15 months. The post mortem showed that the baby's liver, spleen and bone marrow were normal but her brain pathology was identical to that of her brother who had also died of Type 2. Ceredase was also unable to prevent lung involvement. Ceredase does not reverse established neurological damage. However it had been hoped that if commenced early enough, it could prevent the onset of neurological damage. (It is now felt that the damage commences while the baby is still in the womb.)

Three Hundred Patients at Mount Sinai Hospital, New York
Dr Gregory Pastores, Mount Sinai School of Medicine, New York has 300 Gaucher patients under his care with 110 on Ceredase or Cerezyme. He now starts all new patients on a dose of 30 units per kilogram every two weeks (half the original high dose). In a few severe cases he gives the treatment once a week ie 15 units per kilo once a week. (One patient reported in conversation that she started having nose bleeds again about 10 days after each two week treatment at 30 units per kilo - she could be a candidate for once a week therapy).

Reporting results on 50 patients, half of whom received 30 units per kilo every two weeks and half of whom received 40-60 units, there was no significant difference in improvements in platelets or haemoglobin or liver or spleen volume reduction.

In the case of some patients whose dose had been reduced to 15 units per kilo every two weeks, there were indications that there had been a plateau in the response or reported recurrence of bone symptoms.

'Our experience demonstrates that the wide clinical variability encountered among the patients and the disparate responses observed during the therapy necessitates the need for individualised treatment schedules' he concluded.


Source: Gauchers News February 1995
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