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Genetic Disorders Registry for Long-Term Outcome Studies

The IBEM-IS project led by Dr. Susan Berry aims to gather uniform data on treatment strategies for genetic conditions like Maple Syrup Urine Disease. The project involves clinics in Region 4 and Heartland to track patient outcomes. New developments include companion surveys on dialysis, imaging, pregnancy, and transplant. The Congenital Adrenal Hyperplasia Long-Term Follow-Up Project, led by Dr. Kyriakie Sarafoglou, focuses on examining the stigma's effect on patients and improving disease control methods. Surveys for CAH are complete, with DSD and urogenital surveys in progress.

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Genetic Disorders Registry for Long-Term Outcome Studies

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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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