1. Region 4 Genetics Collaborative NCC/RC Annual Meeting November 17, 2009 Region 4 Genetics Collaborative Long-term Follow-up Projects

2. Region 4 Genetics Collaborative NCC/RC Annual Meeting November 17, 2009 Inborn Errors of Metabolism Information System (IBEM-IS) Project Lead Susan Berry, MD

3. Region 4 Genetics Collaborative NCC/RC Annual Meeting November 17, 2009 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. Region 4 Genetics Collaborative NCC/RC Annual Meeting November 17, 2009 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. Region 4 Genetics Collaborative NCC/RC Annual Meeting November 17, 2009 Clinics Participating Project Participation –9 Region 4 clinics –2 Heartland clinics Pending IRB approval –1 Region 4 Clinic –1 Heartland Clinic

6. Region 4 Genetics Collaborative NCC/RC Annual Meeting November 17, 2009 Cases Entered 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-CoA dehydrogenase deficiency (VLCAD) Carnitine Update Disorder (CUD) Carnitine Palmitoyl transferase Deficiency 1 / 2 (CPT) 7 2 4 87 14 7 5 11 7 2

7. Region 4 Genetics Collaborative NCC/RC Annual Meeting November 17, 2009 New Developments Companion surveys under development: Dialysis Imaging Pregnancy Transplant

8. Region 4 Genetics Collaborative NCC/RC Annual Meeting November 17, 2009 Congenital Adrenal Hyperplasia Long-term Follow-up Project Lead Kyriakie Sarafoglou, M.D.

9. Region 4 Genetics Collaborative NCC/RC Annual Meeting November 17, 2009 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. Region 4 Genetics Collaborative NCC/RC Annual Meeting November 17, 2009 Current Status CAH surveys complete and entered into DocSite platform DSD surveys drafted Urogenital surveys drafted