The management of severe
Gaucher's disease was dramatically improved by the development of
enzyme replacement therapy. However, this treatment is very costly (currently about $21,000 per infusion for adults at the starting dose recommended by the manufacturer). The goal of this study was to determine how
enzyme replacement therapy was being prescribed and financially supported in various parts of Canada. In addition, demographic and outcome information was elicited.
METHODS: Prescribing physicians were identified through professional associations and with the help of the manufacturer of the
enzyme preparations used for the treatment of
Gaucher's disease. The physicians were surveyed by questionnaire in July 1995. The study included all patients in Canada who had received
enzyme replacement therapy for
Gaucher's disease before July 1, 1995.
RESULTS: A total of 25 patients (15 children and 10 adults) with type 1
Gaucher's disease, the common nonneuronopathic variant of the disease, were receiving
enzyme replacement therapy by the end of 1995. The indications for treatment included massive
splenomegaly, growth failure, and severe bony, hematologic and pulmonary complications of the disease; no patients with mild disease were receiving treatment. Treatment regimens varied markedly (from 12 to 160 units of
enzyme/kg per month). All the patients were reported to have responded well to
therapy, based on serial measurements of hematologic indices, liver and spleen volumes, and numbers of bony crises as well as patients' subjective impressions. Financial support for
therapy varied markedly from one province to another. None of the reporting physicians was aware of any patients with severe
Gaucher's disease who were denied
therapy as a result of inability to pay for the medication. Various agencies provided financial support for
therapy, including both federal and provincial governments, private insurance carriers and the commercial supplier of the
enzyme. In Ontario provincial health care officials accepted the development, by a multidisciplinary panel of medical experts, of formal guidelines for determining eligibility, on the basis of objective medical criteria, for reimbursement for
enzyme replacement treatment.
INTERPRETATION: Although some differences were found across the country with respect to the details of treatment, the indications for
enzyme replacement therapy and the selection of severely affected patients were similar in the various provinces. However, financial support was inconsistent and varied among provinces and patients. This will prove to be a challenge in future, not only with respect to this disease but also for other diseases for which effective, expensive
therapy has been developed.