Inborn Errors of Metabolism

Principal Investigators: Cynthia Cameron, PhD and Susan Berry, MD

Institution(s): Michigan Public Health Institute and University of Minnesota

Project Start Date: April 15, 2011

Project End Date:  February 29, 2016

Project Uses: R4S, VRDBS, LDPR


“Collaborative Defining the Natural History of Inborn Errors of Metabolism”

To verify the effectiveness of early identification, intervention, and treatment, longitudinal assessment of outcomes is essential. A better understanding of the natural histories of rare metabolic disorders and the effectiveness of current treatments is necessary to provide optimum care and promote the best possible outcomes for children with these conditions. The Inborn Errors of Metabolism Collaborative (IBEMC), consisting of 13 clinics from 10 states, will collect longitudinal data that capture the clinical progress of persons affected with conditions identified by newborn screening, focusing on inborn errors of metabolism. Data will be used to better define the natural histories and understand the effect of treatment interventions. The database will allow for: 1. Investigation of the relationship among NBS values, genotype, and early manifestations as well as complications of inborn errors of metabolism; 2. Evaluation of the impact of early identification and intervention on metabolic conditions; 3. Informed decision making about optimal public health investment in NBS; 4. Clarification of the previously undefined natural history of very rare metabolic conditions; and 5. Identification of current nutritional and therapeutic interventions for children with metabolic conditions and evaluation of their effectiveness. The IBEMC will build on the work of the HRSA-funded Region 4 Genetics Collaborative and be developed in collaboration with other national efforts, including the Newborn Screening Translational Research Network. As a sufficient number of cases are entered for the rarer disorders, research will provide evidence as to the efficacy of early diagnosis and treatment.

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