REGISTERS OF INHERITED METABOLIC DISEASES

THE OBJECTIVES OF THIS PROJECT ARE TO ESTABLISH A REGISTER OF INHERITED METABOLIC DISEASES (IMD'S) THAT WILL PROVIDE DATA FOR APPROPRIATE HEALTH-CARE PROVIDERS TO IDENTIFY, CLASSIFY, AND TRACK PATIENTS WITH IMD'S. THE METHODOLOGY DEVELOPED TO IMPLEMENT AS ACCURATE AND COMPLETE REGISTER INFORMATION AS POSSIBLE ON TWO IMD'S (GALACTOSEMIA AND MSUD)WILL BE TRANSFERRABLE TO OTHER DISEASES. TASKS INCLUDE: (1) ENSURE SECURITY OF DATA AND CONFIDENTIALITY OF PATIENT IDENTITY, (2) IDENTIFY INFORMATION SOURCES FROM WHICH DIAGNOSES HAVE BEEN ASCERTAINED OR POTENTIALLY IDENTIFIED, (3) DEVELOP SURVEY INSTRUMENTS TO DETERMINE METHODOLOGY OF CURRENT DATA COLLECTION, (4) DEFINE DATA SETS, AND (5) DEVELOP FORMS FOR COLLECTING REGISTER INFORMATION. DATABASE MANAGEMENT INCLUDES COMBINING EXISTENT METABOLIC CLINICSH DATA, NEWBORNSCREENING DATABASES, AND YET TO BE DETERMINED DATA SOURCES TO CREATE AS LARGE A REGISTER AS POSSIBLE. POTENTIAL USES OF THE REGISTER INCLUDE DIAGNOSTIC AND RESEARCH STUDIES OF: (1) TREATMENT OR CLASSIFICATION, (2) MORBIDITY AND MORTALITY, (3) INCIDENCE AND PREVALENCE, AND (4) RISKS FOR OFFSPRING. DIRECTORIES WILL BE CREATED TO COUPLE IDENTIFICATION OF INDIVIDUAL PHYSICIANS AND/OR GROUPSINVOLVED IN PATIENT CARE AND RESEARCH WITH LABORATORIES PERFORMING DIAGNOSTIC TESTS. THE REGISTER WILL ALLOW CLINICAL PERSONNEL TO ACCESS TIMELY INFORMATION LINKING HEALTH-CARE PROVIDERS AND IMD PATIENTS.