Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Orphan drug legislation passed in the USA in 1983 and in Europe in 1999 has encouraged biotechnology companies to develop treatments for diseases that the industry previously ignored because they affect only small numbers of people and promised only limited profitability. Incentives, exclusivity and the freedom to charge sufficient to cover development costs has led to a niche market, and patients with lysosomal storage disorders have been one of the main beneficiaries of these developments. The recombinant production of highly purified enzymes that are modified to improve tissue targeting has been a direct result of this legislation. The spectacular clinical and financial success of Cerezyme (and previously Ceredase, Genzyme) for the treatment of Gaucher disease has led to the development of enzyme replacement treatment(s) for Fabry disease and mucopolysaccharidoses types I and VI. A number of other enzyme replacement therapies are at an earlier stage in development and the next 12 months could see the launch of therapies for mucopolysaccharidosis type II and Pompe disease. Like all medical treatments, this approach has some limitations. Not all patients are suitable for treatment, some organs and tissues are corrected more readily than others, and there are problems with gauging efficacy in these highly variable disorders. Finally, the therapies are expensive, limiting access to patients from those countries that are able to afford expensive health care.
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PMID:Limitations of enzyme replacement therapy: current and future. 1676 16

In 1993, the first effective enzyme replacement therapy for a genetic disease, Ceredase (Genzyme Corporation, Cambridge, MA), was approved for use in patients with Gaucher disease. Over the next 13 years, enzyme replacement therapy became clinically available for the treatment of Fabry disease, mucopolysaccharidosis Type I, mucopolysaccharidosis Type II, mucopolysaccharidosis Type VI, and glycogen storage disease Type II. The development of enzyme replacement therapy to treat lysosomal storage diseases has resulted in an increasing number of genetic patients undergoing weekly or biweekly intravenous enzyme replacement therapy and an expanded role of the genetics team to include comprehensive care involving therapeutic intervention for lysosomal storage diseases. This article describes the development of two outpatient genetics-based infusion centers: the Northshore Genetics Infusion Clinic as part of the Children's Hospital of Wisconsin Lysosomal Diseases Treatment Center in conjunction with the Medical College of Wisconsin and the Emory Lysosomal Storage Disease Center for Genetic Infusions in the Emory University Department of Human Genetics.
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PMID:Creating genetics-based infusion centers: a case study of two models. 1864 14