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NBSTRN SCID National Call February 24, 2012. Call in number: 1-866-671-5988 Conference code: 841-900-2082. 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 - PowerPoint PPT Presentation
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Call in number: 1-866-671-5988Call in number: 1-866-671-5988
Conference code: 841-900-2082Conference code: 841-900-2082
NBSTRN SCID National Call
February 24, 2012
NBSTRN SCID National Call
February 24, 2012
AgendaAgenda
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 2
New agenda items
January 2012 UpdateJanuary 2012 Update
Newborn Screening Translational Research Network 3
Number of
States
Shading
Status
10 State-wide Screening
3 Partial Screening
16 Screening approved
22 Fact Finding
Percentage of Annual BirthsPercentage of Annual Births
Newborn Screening Translational Research Network 4
January 2012 Update From StatesJanuary 2012 Update From States
States Currently ScreeningStates 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 ScreeningStates 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. IndustryIndustry
• No Update
Newborn Screening Translational Research Network 5
January 2012 R4S UpdateJanuary 2012 R4S Update
Newborn Screening Translational Research Network 6
• SCID module available. Roshini Abraham and Fred Lorey are the co-curators.
• Contact David McHugh to access - [email protected]
• 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 TypesConditions by
Flow Phenotyping
SCID T-B+NK-
Leaky SCID/Omenn Syndrome
T-B-NK-
Variant SCID T-B-NK+
Syndromes with T cell impairment
T-B+NK+
Secondary T cell lymphopenia other than preterm alone
Other
Preterm alone
January 2012 R4S UpdateJanuary 2012 R4S Update
Newborn Screening Translational Research Network 7
• 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 TypesConditions
by Flow Phenotyping
SCID T-B+NK-
Leaky SCID/Omenn Syndrome
T-B-NK-
Variant SCID T-B-NK+
Syndromes with T cell impairment
T-B+NK+
Secondary T cell lymphopenia other than preterm alone
Other
Preterm alone
R4S DocumentationR4S Documentation
Newborn Screening Translational Research Network 8
January 2012 CDC Update - BobJanuary 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 9
January 2012 CDC Update - JoAnneJanuary 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 10
PIDTCPIDTC
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 11
PIDTC Scientific WorkshopPIDTC 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 12
Information for PIDTC MeetingInformation for PIDTC Meeting
Newborn Screening Translational Research Network 13
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): _____.
Treatment of infants identified with SCID by NBS
PT Phenotype &
Genotype
Treatment (ERT, GT or Donor Type*)
Age at
HCT (mo)
Conditioning regimen
Time (mo) since HCT
Outcome (Alive? Home? IVIg?)
CA 1
IL2RG typical
MMRD x2 None 18 A, home, IVIg
CA 2
IL7R typical MMRD None 17 A, home, no meds
*PEG-ADA, GT, MRD, MMRD, URD, UCB, or pending (if more than one treatment, list in order)
Information for PIDTC MeetingInformation for PIDTC Meeting
January Discussion of Implementation Issues 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 15
January Discussion of Implementation Issues 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 [email protected]
Jennifer Garcia appointed to the Save Babies Through Screening Foundation Board of Directors – congrats Jennifer!!
Newborn Screening Translational Research Network 16
February Implementation IssuesFebruary Implementation Issues
Heather Smith Florida Whitepaper Florida Cost to Screen
Newborn Screening Translational Research Network 17
Long-Term Follow-Up UpdateLong-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 18
Action ItemsAction Items
Newborn Screening Translational Research Network 19
Responsible Party
Action Timeline
All Review and update status of implementation for your state
Before next call March
All Submit questions and/or agenda items
Before next call March
