Fluorophore Carbohydrate Test: Lysosomal Storage Disease

Period of Performance: 06/01/1998 - 05/31/1999

Unknown

Phase 2 SBIR

Recipient Firm

Glyko, Inc.
Novato, CA 94949
Principal Investigator

Abstract

The thirty known types of Lysomomal Storage Diseases (LSDs) collectively represent over 15% of all known inborn errors of metabolism. The clinical indications of disease which include peripheral and CNS disorders, mental retardation, skeletal defects and early childhood death are a result of the accumulation of incompletely degraded complex carbohydrates and glycolipids in the cell. These incompletely degraded carbohydrates are excreted into the urine and the amount and type of excreted carbohydrate can be used as diagnostic "markers" for the type of storage disease. The routine screening assays for LSDs used by most clinical reference laboratories are insensitive, non-standardized procedures, where disease identification is highly subjective. We have developed a highly sensitive and reliable method for identifying and quantifying urinary oligosaccharides based on fluorescence-assisted-carbohydrate- electrophoresis or FACE. Currently, the FACE assay is being evaluated in the clinical laboratory as a method to identify children with oligosaccharidoses-type LSDs. This proposal outlines the development of a similar FACE assay which should result in a relatively easy and reliable test for mucopolysaccharidoses-type LSDs in children. PROPOSED COMMERCIAL APPLICATION: This research will result in the commercial development of the first comprehensive system for routine LSD screening. The system will include reagent kits consisting of quality controlled fluorescent dyes, buffers, standards and controls; precast polyacrylamide gels, and complete manuals containing standardized and tested protocols for routine LSD screening. A complete CCD-based gel imaging system with neural network pattern recognition software will also be commercialized to aid in disease identification, data analysis and data archiving.