Call in number: Conference code: NBSTRN SCID National Call February 24, 2012

Agenda   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 Network2 New agenda items

January 2012 Update Newborn Screening Translational Research Network3 Number of States Shading Status 10 State-wide Screening 3 Partial Screening 16 Screening approved 22 Fact Finding

Percentage of Annual Births Newborn Screening Translational Research Network4

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 1 st 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 WA – Advisory committee meeting delayed. Update at next call. MI – Plan to implement in mid  Industry No Update Newborn Screening Translational Research Network5

January 2012 R4S Update Newborn Screening Translational Research Network6 SCID module available. Roshini Abraham and Fred Lorey are the co-curators. Contact David McHugh to access - 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 Condition Types Conditions by Flow Phenotyping SCIDT-B+NK- Leaky SCID/Omenn Syndrome T-B-NK- Variant SCIDT-B-NK+ Syndromes with T cell impairment T-B+NK+ Secondary T cell lymphopenia other than preterm alone Other Preterm alone

January 2012 R4S Update Newborn Screening Translational Research Network7 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. Condition Types Conditions by Flow Phenotyping SCIDT-B+NK- Leaky SCID/Omenn Syndrome T-B-NK- Variant SCIDT-B-NK+ Syndromes with T cell impairment T-B+NK+ Secondary T cell lymphopenia other than preterm alone Other Preterm alone

R4S Documentation Newborn Screening Translational Research Network8

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 Network9

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 Plan to introduce internationally in nd panel now accepting and waiting for results. Everyone is doing really well. Newborn Screening Translational Research Network10

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 Network11

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 Network12

Information for PIDTC Meeting Newborn Screening Translational Research Network13 Date NBS started: _______. Number screened: __________. Statewide? Y/N ___. % with 1 st test not normal so that any 2 nd 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 ( autologous T cells, no maternal cells, PHA 10-30%): ______. Genotypes, number of each: _______________________. Number of variant SCID ( 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): _____.

Treatment of infants identified with SCID by NBS PTPhenotype & Genotype Treatmen t (ERT, GT or Donor Type*) Age at HCT (mo) Conditionin g regimen Time (mo) since HCT Outcome (Alive? Home? IVIg?) CA 1 IL2RG typical MMRD x2None18A, home, IVIg CA 2 IL7R typicalMMRDNone17A, home, no meds *PEG-ADA, GT, MRD, MMRD, URD, UCB, or pending (if more than one treatment, list in order) Information for PIDTC Meeting

January Discussion of Implementation Issues   Cost   Heather Smith from Florida is collecting cost estimates. Please her your information directly.   Equipment   Lucy/Iowa is looking for thoughts on purchasing equipment. Please her your thoughts.   Screening and short-term follow-up algorithms   Materials shared to date are on the NBSTRN website Newborn Screening Translational Research Network15

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 Hovermale   Jennifer Garcia appointed to the Save Babies Through Screening Foundation Board of Directors – congrats Jennifer!! Newborn Screening Translational Research Network16

February Implementation Issues   Heather Smith   Florida Whitepaper   Florida Cost to Screen Newborn Screening Translational Research Network17

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 Network18

Action Items Newborn Screening Translational Research Network19 Responsible Party ActionTimeline All Review and update status of implementation for your state Before next call March AllSubmit questions and/or agenda items Before next call March