Multi-Center Feasibility Study of a Neonatal IRT-PAP Screening Concept for Cystic Fibrosis
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1 Multi-Center Feasibility Study of a Neonatal IRT-PAP Screening Concept for Cystic Fibrosis Participating Sites: Wisconsin State Laboratory of Hygiene, USA Gary Hoffman New England Newborn Screening Program Massachusetts State Lab Institute NBS Lab, USA Anne Comeau, Roger Eaton LABORATORIO DI RIFERIMENTO REGIONALE PER LO SCREENING NEONATALE, A.O. Istituti Clinici di Perfezionamento, Ospedale dei Bambini, V. Buzzi, Milano, ITALY Paola Vigano, Carlo Corbetta Universitätskinderklinik Dresden, GERMANY Marina Stopsack
2 Multi-Center Feasibility Study of a Neonatal IRT-PAP Screening Concept for Cystic Fibrosis OBJECTIVE Evaluate the effectiveness of an IRT/PAP cystic fibrosis protocol against the more traditional IRT/IRT and IRT/CFTR protocols
3 Current Cystic Fibrosis Screening Protocols Immunoreactive Trypsinogen (IRT) Lacks CF Specificity Two Tiered Approach Repeat Newborn screen Cutoffs at 99 percentile (1% false positives) IRT decreases with time (variable with CF patients) Establish 2nd specimen cutoff (difficult) DNA analysis DNA analysis 3 5% are referred to mutation analysis Expensive Detects carriers Consent
4 The New Kid on the Block Pancreatitis Associated Protein (PAP) PAP is elevated at birth in CF newborns PAP elevation is not strictly specific to CF PAP is a STRESS protein synthesized by diseased pancreas PAP measurements alone have no advantage over IRT for CF screening. A combination of PAP and IRT may improve CF screening Reference: 1. Sarles, J., Berthezene, P., Le Louarn, C., Somma, C., Perini, J.M., Catheline, M., Mirallie, S., Luzet, K., Roussey, M., Farriaux, J.P., Berthelot, J., Dagorn, J.C. (2005): J Pediatr. 147,
5 Study Design Testing Protocol IRT assay routine procedure at each site PAP assay Developed by PerkinElmer life and Analytical Sciences / DynaBio On-site training Precision study Study Period Six runs Calibrators in duplicate Controls (two levels) 10 results each Approximately 4,700 specimens IRT and PAP analysis
6 Study Design Data Collected Specimen Analyzed: 18,080 Total ~ 4,700 specimens / site IRT Results PAP Results Positive IRT results CFTR mutation results Sweat test results Diagnosis
7 Principles of the DELFIA PAP assay SPECIMEN ELUTION Over night 1st incubation Solid phase anti- PAP IgG PAP molecule bio 2nd incubation Biotinylated anti- PAP IgG bio Eu 3rd incubation bio Eu-labelled Streptavidin bio Eu Eu Enhancement Solution bio bio Fluorescence measurement
8 IRT Data Summary IRT and PAP concentrations Site Mean Median 95% 97.5% 99% 99.5% Madison -USA Boston-USA Milan-Italy Dresden-Germany PAP Site Mean Median 95% 97.5% 99% 99.5% Madison-USA Boston-USA Milan-Italy Dresden-Germany
9 Combined results of the Feasibility Study Combined data PAP (ng / ml) Sweat test positives Normal Milano Dresden Milano Boston Boston Madison IRT (ng/ml) n = 18080
10 Combined results of the Feasibility Study Combined data PAP (ng / ml) Milano Milano ( 157, 41.7 ) Boston Boston Madison Sweat test positives Normal Dresden IRT (ng/ml) n = 18080
11 Data Summary (Cont) Confirmed CF cases (n = ) Site IRT (ng/ml) PAP(ng/mL) Madison-USA Boston- USA Milan-Italy Retrospective specimens Dresden-Germany
12 Data Summary (Cont) Positive rate Current IRT referral IRT/IRT ~1% IRT/CFTR mutation ~5% IRT and PAP Combination: (Hypothetical Cutoffs) Madison-USA Boston-USA Milan Dresden IRT >50 ng/ml PAP >1.8 ng/ml 0.57% 0.53% 1.92% 0.06% IRT >100 ng/ml PAP >1.0 ng/ml 0.27% 0.31% 0.44% 0.09% IRT >50 ng/ml PAP >1.8 ng/ml OR IRT >100 ng/ml PAP >1.0 ng/ml 0.69% 0.79% 2.02% 0.13%
13 Combination of IRT and PAP IRT/IRT Protocol PAP and IRT above threshold Newborns IRT above threshold ~1% PAP Positive rate ~ 0,25% ~1%
14 Combination of IRT and PAP IRT/CFTR Protocol Positive rates Specimens referred for CFTR analysis positive rate (%) 1: 95% IRT Percentile : IRT>=50 & PAP >= : IRT >= 100 & PAP >= : Either 2 OR
15 Potential IRT/PAP Advantages IRT/IRT Protocol Decrease repeat specimens Reduce parental concerns/stress IRT/CFTR mutation Decrease carrier identification Decrease mild forms of CF detection Decrease costs Eliminate out-sourcing needs
16 Study Conclusions IRT and PAP Combination Reduction in Positive Rate IRT/IRT and IRT/CFTR protocols Limitations PAP assay not fully optimized Small sample size False negatives could not be addressed The data collected warrants more study
17 Acknowledgements USA - Wisconsin Kelly Klockziem Michael Cogley USA - Massachusetts Karin Riddle Yasmin Khalifa Italy - Milan C. Cattaneo D. Lesmo Germany Dresden Nepomuk Nilson
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