NBSTRN SCID National Call February 24, 2012

1. NBSTRN SCID National CallFebruary 24, 2012 Call in number: 1-866-671-5988 Conference code: 841-900-2082

2. Agenda New agenda items • Standing Agenda – Led by Dr. Michele Caggana • Introduction of New Participants • Update from States • Update from States that are Currently Screening • Update from States that are not Currently Screening • Update on R4S Portal – Roshini and Fred • Update from CDC • NSQAP TREC PT Program – Joanne (not on call today) • NSTRI - Bob • Update on Educational Efforts • PIDTC Request • Implementation Issues • Florida Whitepaper - Heather • Florida Issues - Heather • Long-Term Follow-Up Effort - Amy Newborn Screening Translational Research Network

3. January 2012 Update Newborn Screening Translational Research Network

4. Percentage of Annual Births Newborn Screening Translational Research Network

5. January 2012 Update From States • States Currently Screening • CA – Began Aug 2010; ~700,000 screened. • CT – Validation completed in October. First transplant last week. • MI – Began Oct 1st 2011; ~30,000 screened. No cases. • States Not Currently Screening • VA – Working on cost estimates to build out facility. Looking into several funding options. Practicing with molecular methods. • FL – Governor did not approve portion of budget that included SCID. Another opportunity to resubmit in the near future. • NE – Probably won’t begin screening until 2013. • WA – Advisory committee meeting delayed. Update at next call. • MI – Plan to implement in mid 2013. • Industry • No Update Newborn Screening Translational Research Network

6. January 2012 R4S Update • SCID module available. Roshini Abraham and Fred Lorey are the co-curators. • Contact David McHugh to access - McHugh.David@mayo.edu • Goal is to get states that are screening and/or planning to screen to actively enter data. Pilot data can be entered into R4S. • Introductory webinar can be held at any time. • Currently 6 condition types • Depends on diagnosis given by immunologist Newborn Screening Translational Research Network

7. January 2012 R4S Update • Introductory webinar can be held at any time. • Currently 6 condition types • Depends on diagnosis given by immunologist • Goal is to get states that are screening and/or planning to screen to actively enter data. • Pilot data can be entered into R4S. Newborn Screening Translational Research Network

8. R4S Documentation Newborn Screening Translational Research Network

9. January 2012 CDC Update - Bob • Development of CLSI Guidance in process. • Development of a calibrator in process. • 15 labs participating – 2 foreign • Open to any lab • Collaborating with J Puck and A Comeau Newborn Screening Translational Research Network

10. January 2012 CDC Update - JoAnne • Formal proficiency program in place. • 8 laboratories enrolled. • Quarterly proficiency testing. • Currently recording first TREC report. • Available throughout the US in 2012. • Plan to introduce internationally in 2013. • 2nd panel now accepting and waiting for results. • Everyone is doing really well. Newborn Screening Translational Research Network

11. PIDTC • PIDTC is part of the NIH funded Rare Diseases Clinical Research Network • Working to improve the outcome of patients with SCID • NBSTRN discussed potential collaborative efforts between the PIDTC and Rare Diseases Clinical Research Network Data Management and Coordinating Center (RDCRN DMCC) • Goal is to avoid duplication of efforts and work together Newborn Screening Translational Research Network

12. PIDTC Scientific Workshop • 2nd annual PIDTC Scientific Workshop to be held in Boston April 26-28th, 2012 • In preparation for the workshop, Dr. Jennifer Puck has asked for help in collecting information on SCID NBS screening, diagnosis, treatment and health outcomes • Only for states currently screening • Some information from screening lab and some from clinicians • Identify immunologists/transplanters who would have the most up to date outcomes • NBSTRN staff will help collect the information – contact Amy Brower • Worksheet sent out to group – review information on the next two slides Newborn Screening Translational Research Network

13. Information for PIDTC Meeting Date NBS started: _______. Number screened: __________. Statewide? Y/N ___. % with 1st test not normal so that any 2nd specimen needed (positives + not definitive): ________. Number of infants requiring lymphocyte subsets by flow: _________; this is ___ % of total screened. Number of infants with <1500 T cells : _______; this is ___ % of total screened. Number of typical SCID (<300 autologous T cells, PHA <10% of control): ______. Genotypes, number of each: _________________________________________. Number of leaky SCID/Omenn(300-1500 autologous T cells, no maternal cells, PHA 10-30%): ______. Genotypes, number of each: _______________________. Number of variant SCID (300-1500 autologous T cells with impaired function, no maternal cells, no genotype found): ______. Number of syndromes with low T cells (DiGeorge, CHARGE, CHH, etc): _____. Number of secondary low T cells (heart disease, third spacing, etc): _____. Newborn Screening Translational Research Network

14. Information for PIDTC Meeting Treatment of infants identified with SCID by NBS

15. January Discussion of Implementation Issues • Cost • Heather Smith from Florida is collecting cost estimates. Please email her your information directly. • Equipment • Lucy/Iowa is looking for thoughts on purchasing equipment. Please email her your thoughts. • Screening and short-term follow-up algorithms • Materials shared to date are on the NBSTRN website Newborn Screening Translational Research Network

16. January Discussion of Implementation Issues • Educational Efforts • Materials shared to date are on the NBSTRN website • SCID Angels is updating video • Advocacy • The Immune Deficiency Foundation offered itself as a resource for states to identify patient advocates, provide educational materials, and assist with identifying physician experts for follow up. • Please contact Emily Hovermaleehovermale@primaryimmune.org • Jennifer Garcia appointed to the Save Babies Through Screening Foundation Board of Directors – congrats Jennifer!! Newborn Screening Translational Research Network

17. February Implementation Issues • Heather Smith • Florida Whitepaper • Florida Cost to Screen Newborn Screening Translational Research Network

18. Long-Term Follow-Up Update • PIDTC shared their data forms and currently comparing data elements • Reviewing USIDNET data sets • Data capture tool development initiated but won’t be completed until we have identified a grantee, investigator or program that wants to use the tool Newborn Screening Translational Research Network

19. Action Items Newborn Screening Translational Research Network