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Collaborative Long-Term Follow-Up on Inborn Errors of Metabolism: The IBEM-IS Project

The IBEM-IS project, led by Dr. Susan Berry, aims to collect uniform data on clinical practices for 33 genetic conditions related to inborn errors of metabolism (IEM). By assessing treatment strategies, we aim to identify the most effective interventions for disorders such as fatty acid oxidation disorders and Maple Syrup Urine Disease. This disease registry includes participation from various clinics and seeks IRB approval to enhance understanding of disease outcomes, improve treatment approaches, and foster collaborative research projects in the field.

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Collaborative Long-Term Follow-Up on Inborn Errors of Metabolism: The IBEM-IS Project

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  1. Region 4 Genetics Collaborative Long-term Follow-up Projects

  2. Inborn Errors of Metabolism Information System (IBEM-IS) Project Lead Susan Berry, MD

  3. IBEM-IS • Goal • To gather uniform data and asses clinical practice differences to learn which treatment strategies are most effective • Product • Disease registry to track treatment and outcomes of patients

  4. Current Scope • Elements defined for 33 genetic conditions • All fatty acid oxidation disorders • Maple Syrup Urine Disease and Tyrosenemia • C3; C5OH disorders; and GA-1 • Biotinidase and Glactosemia

  5. Clinics Participating • Project Participation • 9 Region 4 clinics • 2 Heartland clinics • Pending IRB approval • 1 Region 4 Clinic • 1 Heartland Clinic

  6. Cases Entered 7 2 2 4 87 14 7 5 11 7 2 Total subjects = 135 • Carnitine Uptake Disorder (CUD) • Carnitine palmitoyltransferase (CPT 1 & 2) • isobutyryl-CoA dehydrogenase (IBD) deficiency • Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) • Medium-chain acyl-coenzyme dehydrogenase (MCAD) • Maple Syrup Urine Disease – • Short chain acyl CoA dehydrogenase deficiency (SCAD) – • Tri-functional protein deficiency (TFP) • Very-long chain acyl-CoAdehydrogenase deficiency (VLCAD) • Carnitine Update Disorder (CUD) • Carnitine Palmitoyl transferase Deficiency 1 / 2 (CPT)

  7. New Developments Companion surveys under development: • Dialysis • Imaging • Pregnancy • Transplant

  8. Congenital Adrenal Hyperplasia Long-term Follow-up Project Lead Kyriakie Sarafoglou, M.D.

  9. Benefits • Provide valuable information on a broader scale than can be obtained at a single institution • Catalyst to create collaborative research projects • Examine effect of “stigma” on CAH patients • Better methods of monitoring disease control • Improved understanding of the disease course and ways to improve outcomes

  10. Current Status • CAH surveys complete and entered into DocSite platform • DSD surveys drafted • Urogenital surveys drafted

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