Inborn Errors of Metabolism Collaborative

Cumulative enrollment 2007-November, 2018. Bands of color represent the number of patients per disorder. 

The Inborn Errors of Metabolism Collaborative (IBEMC) is a network of specialty centers that collects information about the clinical progress of individuals with inborn errors of metabolism (IBEM). IBEM are extremely rare genetic conditions, many of which can be identified by newborn screening. The expansion of newborn screening has dramatically changed clinical practice for the care of individuals with these rare conditions from a reactive response, to one that permits early identification and treatment.

In the absence of protocols based on clinical evidence, clinicians caring for patients with IBEM are faced with challenging treatment decisions. Historically, practitioners have been left to determine how they will treat individuals with IBEM based on how their mentor approached treatment, what they have read, and what they have learned from their own clinical experience. With only a handful of infants diagnosed with IBEM each year in any given state, the lack of evidence-based standards is not surprising. The IBEMC was created to address this need.

In 2007, the Health Resources Services Administration of the United States Department of Health and Human Services (HRSA) awarded the Region 4 Genetics Collaborative (currently Midwest Genetics Network) a grant to support the development of the Inborn Errors of Metabolism Information System (IBEM-IS). This allows clinics in the IBEMC to collect longitudinal data about individuals affected with an IBEM condition. The data are used for research to explore the medical status and long-term outcomes of patients. To date, over 2,100 patients have been enrolled in the IBEM-IS, which includes 7,300 unique data elements and almost 750,000 completed data fields.

The data collected by the IBEMC will allow clinicians to study and learn more about these rare conditions and permit the development of evidence-based practice in patient care.

The following articles have been published by the IBEMC:

IBEMC Large scale collection of data on long term follow up for newborn screened conditions

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency

Outcomes of cases with 3-MCC Deficiency

An Explanation of Genetic Test Utilization, Genetic Couseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative

Comparison of Methods of Initial Ascertainment in 58 Caes of Propionic Acidemia Enrolled in the IBEM -IS Reveals Significant Differences in Time ot Evalluation and Symptoms at Presentation

 

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