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Dr Paige Kaplan runs the Gauchers Treatment Centre at the Children's Hospital of Pennsylvania and the Hospital of the University of Pennsylvania based in Philadelphia. She is the primary investigator in a US wide study to find the best doses for Cerezyme in children and adults. She is trained as a paediatrician and geneticist. Report by Susan Noe.
Dr Kaplan explained that the aims of primary health care are, among others, normal growth. Many Gauchers Type 1 children are short or growth is delayed although there had been no studies to support this.
The growth and pubertal development were analysed in children under 18 years old with Type 1 Gauchers prior to treatment with Ceredase. The questions asked were:
The growth, height and weights of the children were recorded. They were then compared with several aspects of Gauchers as well as family background:
The heights of parents and siblings were measured to determine if the affected child was growing as expected for the family's genetic background. Mothers' and sisters' age for beginning of menstruation was noted.
Detailed information was used from 17 of the team's own patients but data was available on nearly 100 children.
It was found that there was no difference in growth as regards genotype, severity of bone disease or other factors.
50% Below Normal Height
Approximately 50% were below normal height before starting Ceredase, as compared to their parents and the general population.
25% were normal regarding parents and population and 25% were normal regarding population and low regarding parents.
After Ceredase therapy, the rate of growth increased dramatically in most children who were below normal. In some, the greatly improved growth was noted within a few months but others took more than a year. Even many children in the normal range grew more rapidly than previously. Some children treated at lower doses of 20 units/kg/4 weeks did not improve growth until doses were increased.
Most children whose growth was well below normal are now growing at normal range and are approaching heights expected for family.
Most girls with Gauchers disease who did not start Ceredase before the age of 10 had delayed onset of menstruation (some by several years). However in those who started therapy before 10, menstruation appeared at the expected time (the same as their mothers and sisters).
Dr Kaplan concluded that 50% of Gauchers Type 1 children have stunted growth which is reversed by Ceredase. Development of puberty seems to be normalised by starting Ceredase in the first decade. The improved growth has been important for the children who no longer feel different from their peers and can dress and act appropriate to their chronological age.
Source: Gauchers News February 1995
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