DEVELOPMENT OF SIMPLE AND RELIABLE DIAGNOSTIC TESTS FOR CYST

THE MOST COMMON LETHAL AUTOSOMAL RECESSIVE GENETIC DISEASE AMONG CAUCASIANS IS CYSTIC FIBROSIS (CF), WHICH AFFLICTS ONE IN 2000 NEWBORNS. THE MOST ACCEPTED DIAGNOSTIC TEST FOR CF IS THE QUANTITATIVE SWEAT TEST, WHICH, THOUGH ACCURATE WHEN PERFORMED CORRECTLY, IS UNRELIABLE IN ITS ROUTINE CLINICAL USE AND TECHNICALLY NOT SUITABLE FOR MASS SCREENING. A PROMISING ALTERNATIVE TO THE SWEAT TEST IS MEASUREMENT OF IMMUNOREACTIVE TRYPSIN (IRT) IN BLOOD. HOWEVER, NO CURRENT REAGENTS ARE SUITABLE FOR GENERALIZED MASS SCREENING OF IRT LEVELS IN NEONATES. PHASE I RESEARCH WILL INCLUDE PREPARATION OF HIGH-SENSITIVITY ANTISERA FOR DEVELOPMENT, PRELIMINARY OPTIMIZATION, AND FEASIBILITY STUDY OF A RADIOIMMUNOASSAY OR ENZYMOIMMUNOASSAY FOR SERUM AND DRIED BLOOD SPOT IRT, SPECIFICALLY DESIGNED FOR MASS SCREENING OF NEONATES. THE FEASIBILITY OF ENHANCED EIA SENSITIVITY AND SOLID-PHASE APPLICATION WILL BE TESTED. PHASE II WILL INCLUDE ASSAY VALIDATION AND QC USING PLASMA IRT LEVELS, ASSAY SIMPLIFICATION, AND POTENTIAL FOR AUTOMATION. A PILOT SCREENING STUDY OF NEWBORNS WILL PRECEDE A LARGER AND MORE EXTENSIVE CLINICAL TRIAL IN NEONATAL UNITS OVER A ONE- OR TWO-YEAR PERIOD TO EVALUATE THE ASSAY'S DIAGNOSTIC POTENTIAL. THE RESULTS OF THIS CLINICAL STUDY WILL BE SUBMITTED FOR PUBLICATION. ECONOMIC POTENTIAL FOR COMMERCIAL SALE OF A PROVEN NEONATAL IRT SCREENING ASSAY IS CONSIDERED TO BE GREAT.