History of IBEMC, Mission, Specific Aims, & Expected Outcomes

Background

Newborn screening has dramatically changed clinical practice for care of children with inborn errors of metabolism (IBEM). For those conditions that are identified by newborn screening, management has moved from a reactive response to one that permits active, early identification.

In the absence of protocols based on clinical evidence, clinicians caring for patients with very rare disorders are faced with challenging treatment decisions. Historically, practitioners have been left to determine how they will treat children with inborn errors of metabolism (IBEM) based on how their mentor approached treatment, what they have read in a manual or text, and what they have learned from their own clinical experience. With only a handful of children diagnosed with inborn errors of metabolism each year in any given state, the lack of controlled studies and evidence-based standards is not surprising. The Inborn Errors of Metabolism Information System (IBEM-IS) allows for capture and management of longitudinal clinical data from individuals identified with an IBEM condition. Data are used for research.

History

In 2004, the Maternal and Child Health Bureau of the Health Resources and Services Administration (HRSA) established Regional Genetics Services Collaboratives to improve the health of children and their families by promoting the translation of genetic medicine into public health and health care services. The Region 4 Genetics Collaborative was established at that time under the direction of the Michigan Public Health Institute. Region 4 covers seven states (Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, and Wisconsin) and has over 125 members that represent public health, families of children with genetic disorders, genetic specialists and counselors, pediatricians, and universities.

In 2005, the Region 4 Genetics Collaborative established a long-term follow-up workgroup to develop strategies to improve outcomes for children with Inborn Errors of Metabolism (IBEM) identified by newborn screening. As a first step, the group developed a means for systematically gathering information about the conditions, establishing their clinical courses, and identifying uniform strategies for basic management procedures. The group chose medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, an autosomal recessive disorder of fatty acid oxidation for the pilot effort. MCAD deficiency is the most common disorder of fatty acid oxidation and is among the most common IBEM identified in expanded newborn screening programs.

In 2007, HRSA awarded Region 4 a grant to support the development of the Inborn Errors of Metabolism Information System (IBEM-IS). As the IBEM-IS gained momentum, Region 4 developed an infrastructure to support the collaboration of multiple clinics in collecting and analyzing data. Geneticists from other states joined the project supported by other Regional Collaboratives. Additional disorders were added to the IBEM-IS.

In 2011, MPHI was awarded a grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH). This funding supports 13 clinics representing 10 states. These clinics were selected based on their participation in the IBEM-IS.

  • Ann & Robert H. Lurie Children’s Hospital of Chicago (IL)
  • University of Illinois (IL)
  • Riley Children’s Hospital at Indiana University Health (IN)
  • University of Michigan (MI)
  • Wayne State University Children’s Hospital of Michigan (MI)
  • University of Minnesota (MN)
  • University of Missouri (MO)
  • Cincinnati Children’s Hospital (OH)
  • Nationwide Children’s Hospital (OH)
  • Saint Francis Hospital (OK)
  • Children’s Hospital of Pittsburgh (PA)
  • Sanford Children’s Hospital (SD)
  • University of Wisconsin (WI)

In addition, 7 clinics supported by HRSA funded Regional Collaboratives also actively participate:

  • University of Louisville (KY)
  • University of Nebraska (NE)
  • Hackensack University (NJ)
  • University of Rochester (NY)
  • Women’s & Children’s Hospital of Buffalo (NY)
  • University of Oklahoma (OK)
  • Medical College of Wisconsin (WI)

Together, these clinics form the Inborn Errors of Metabolism Collaborative (IBEMC). The IBEMC collects longitudinal data that capture the clinical progress of persons affected with conditions identified by newborn screening, focusing on inborn errors of metabolism. Data are used to explore their survival, medical status, and long-term outcomes; and permit development of evidence-based practice in patient care.

The IBEMC works closely with the national Newborn Screening Translational Research Network

Mission

To facilitate data collection, access and analysis to guide decision making regarding long term treatment of heritable disorders.

Specific Aims:

Aim 1: To improve scientific knowledge about the natural history of children with inborn errors of metabolism
Aim 2: To gather evidence as to the most effective management and treatment strategies for children with inborn errors of metabolism

Expected Outcomes:

It is anticipated that the IBEM-IS will result in the development of evidence-based treatment protocols, potentially improving the care, health and quality of life for children diagnosed with these rare conditions.

  • Implementation of a longitudinal database that allows tracking of variations in treatment protocols and long-term outcomes
  • Data available on more than 2,000 patients by 2016
    • to support treatment decisions based on larger cohorts of affected children than can be seen by an individual practitioner or specialty center
    • to provide a foundation for evidence-based medical practice and care for rare disorders ascertained through newborn screening through research
  • Research studies on issues of particular interest to our IBEMC partners as well as research studies conducted by principal investigators who are not active IBEMC partners