A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease

Molecular Genetics and Metabolism

Volumn 111, Issue 2, 2014, Pages 92-100

  Wang, Zhaohui ^a   Okamoto, Patricia ^a   Keutzer, Joan ^b  

^a LABORATORY CORPORATION OF AMERICA   (United States)

^b GENZYME CORPORATION   (United States)

Author keywords

Acid maltase deficiency; CRIM; Cross reactive immunologic material; GAA; Glycogen storage disease type II; Pompe disease

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ARTICLE; ASSAY; BLOOD ANALYSIS; CONTROLLED STUDY; CROSS REACTION; CROSS REACTIVE IMMUNOLOGIC MATERIAL ASSAY; ENZYME ANALYSIS; FIBROBLAST; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN CELL; INFANTILE ONSET POMPE DISEASE; ONSET AGE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WESTERN BLOTTING;

4-(2-HYDROXYETHYL)-1-PIPERAZINEETHANESULFONIC ACID; ACD; ACID MALTASE DEFICIENCY; ACID Α-GLUCOSIDASE; ACTB; BOVINE SERUM ALBUMIN; BSA; CITRATE DEXTROSE-A; CRIM; CROSS-REACTIVE IMMUNOLOGIC MATERIAL; DITHIOTHREITOL; DTT; ECL; EDTA; ENHANCED CHEMILUMINESCENCE; ENZYME REPLACEMENT THERAPY; ERT; ETHYLENEDIAMINETETRAACETIC ACID; GAA; GLYCOGEN STORAGE DISEASE TYPE II; HEPES; HORSERADISH PEROXIDASE; HRP; IL-2; IMMUNE TOLERANCE INDUCTION; INFANTILE-ONSET POMPE DISEASE; INTERLEUKIN-2; IOPD; ITI; LDS; LITHIUM DODECYL SULFATE; OD; OPTICAL DENSITY; PBMC; PBS; PERIPHERAL BLOOD MONONUCLEAR CELL; PHOSPHATE-BUFFERED SALINE; POLYVINYLIDENE DIFLUORIDE; POMPE DISEASE; PVDF; RECOMBINANT HUMAN GAA; RHGAA; SDS; SODIUM DODECYL SULFATE; TBST; TBST WITH 5% NONFAT MILK; TBST-MILK; TRIS-BUFFERED NACL SOLUTION WITH TWEEN® 20; Β-ACTIN;

ALPHA-GLUCOSIDASES; B-LYMPHOCYTES; BIOLOGICAL ASSAY; BLOTTING, WESTERN; CELLS, CULTURED; CROSS REACTIONS; ENZYME REPLACEMENT THERAPY; FIBROBLASTS; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; IMMUNE TOLERANCE; IMMUNOSUPPRESSIVE AGENTS; INFANT, NEWBORN; RECOMBINANT PROTEINS; TIME FACTORS;

EID: 84893687359     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.08.010     Document Type: Article

References (25)

1. Hirschhorn R., Reuser A.J.J. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. The Metabolic & Molecular Bases of Inherited Disease 2001, 3389-3420. McGraw-Hill, New York, NY. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
2. Kishnani P.S., Hwu W.L., Mandel H., Nicolino M., Yong F., Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J. Pediatr. 2006, 148:671-676.
3. Kishnani P.S., Howell R.R. Pompe disease in infants and children. J. Pediatr. 2004, 144:S35-S43.
4. CEDAC Final Recommendation and Reasons for Recommendation: Alglucosidase Alfa, Canadian Agency for Drugs and Technologies in Health http://www.cadth.ca/media/cdr/complete/cdr_complete_Myozyme_June-14-2007_e.pdf,2007.
5. Nicolino M., Byrne B., Wraith J.E., Leslie N., Mandel H., Freyer D.R., Arnold G.L., Pivnick E.K., Ottinger C.J., Robinson P.H., Loo J.C., Smitka M., Jardine P., Tato L., Chabrol B., McCandless S., Kimura S., Mehta L., Bali D., Skrinar A., Morgan C., Rangachari L., Corzo D., Kishnani P.S. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet. Med. 2009, 11:210-219.
6. News in brief. Nat. Rev. Drug Discovery 2008, 7:466-467.
7. Kishnani P.S., Corzo D., Leslie N.D., Gruskin D., Van der Ploeg A., Clancy J.P., Parini R., Morin G., Beck M., Bauer M.S., Jokic M., Tsai C.E., Tsai B.W., Morgan C., O'Meara T., Richards S., Tsao E.C., Mandel H. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr. Res. 2009, 66:329-335.
8. Kamphoven J.H., de Ruiter M.M., Winkel L.P., Van den Hout H.M., Bijman J., De Zeeuw C.I., Hoeve H.L., Van Zanten B.A., Van der Ploeg A.T., Reuser A.J. Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse. Neurobiol. Dis. 2004, 16:14-20.
9. Rohrbach M., Klein A., Köhli-Wiesner A., Veraguth D., Scheer I., Balmer C., Lauener R., Baumgartner M.R. CRIM-negative infantile Pompe disease: 42-month treatment outcome. J. Inherit. Metab. Dis. 2010, 33:751-757.
10. Reuser A.J., Verheijen F.W., Bali D., van Diggelen O.P., Germain D.P., Hwu W.-L., Lukacs Z., Mühl A., Olivova P., Piraud M., Wuyts B., Zhang K., Keutzer J. The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - current status and perspectives. Mol. Genet. Metab. 2011, 104:144-148.
11. Kishnani P.S., Nicolino M., Voit T., Rogers R.C., Tsai A.C., Waterson J., Herman G.E., Amalfitano A., Thurberg B.L., Richards S., Davison M., Corzo D., Chen Y.T. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J. Pediatr. 2006, 149:89-97.
12. Chien Y.H., Chiang S.C., Zhang X.K., Keutzer J., Lee N.C., Huang A.C., Chen C.A., Wu M.H., Huang P.H., Tsai F.J., Chen Y.T., Hwu W.L. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 2008, 122:e39-e45.
13. Chien Y.H., Lee N.C., Thurberg B.L., Chiang S.C., Zhang X.K., Keutzer J., Huang A.C., Wu M.H., Huang P.H., Tsai F.J., Chen Y.T., Hwu W.L. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics 2009, 124:e1116-e1125.
14. Burton B.K. Newborn screening for Pompe disease: an update, 2011. Am. J. Med. Genet. C Semin. Med. Genet. 2012, 160:8-12.
15. Mechtler T.P., Stary S., Metz T.F., De Jesus V.R., Greber-Platzer S., Pollak A., Herkner K.R., Streubel B., Kasper D.C. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet 2012, 379:335-341.
16. Kishnani P.S., Goldenberg P.C., DeArmey S.L., Heller J., Benjamin D., Young S., Bali D., Smith S.A., Li J.S., Mandel H., Koeberl D., Rosenberg A., Chen Y.T. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol. Genet. Metab. 2010, 99:26-33.
17. Bali D.S., Goldstein J.L., Banugaria S., Dai J., Mackey J., Rehder C., Kishnani P.S. Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10years of clinical laboratory testing experience. Am. J. Med. Genet. C Semin. Med. Genet. 2012, 160:40-49.
18. Amalfitano A., Bengur A.R., Morse R.P., Majure J.M., Case L.E., Veerling D.L., Mackey J., Kishnani P., Smith W., McVie-Wylie A., Sullivan J.A., Hoganson G.E., Phillips J.A., Schaefer G.B., Charrow J., Ware R.E., Bossen E.H., Chen Y.T. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet. Med. 2001, 3:132-138.
19. Banugaria S.G., Prater S.N., Ng Y.K., Kobori J.A., Finkel R.S., Ladda R.L., Chen Y.T., Rosenberg A.S., Kishnani P.S. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet. Med. 2011, 13:729-736.
20. Messinger Y.H., Mendelsohn N.J., Rhead W., Dimmock D., Hershkovitz E., Champion M., Jones S.A., Olson R., White A., Wells C., Bali D., Case L.E., Young S.P., Rosenberg A.S., Kishnani P.S. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet. Med. 2012, 14:135-142.
21. Lacana E., Yao L.P., Pariser A.R., Rosenberg A.S. The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease. Am. J. Med. Genet. C Semin. Med. Genet. 2012, 160:30-39.
22. Banugaria S.G., Patel T.T., Mackey J., Das S., Amalfitano A., Rosenberg A.S., Charrow J., Chen Y.T., Kishnani P.S. Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells. Mol. Genet. Metab. 2012, 105:677-680.
23. Banugaria S.G., Prater S.N., Patel T.T., Dearmey S.M., Milleson C., Sheets K.B., Bali D.S., Rehder C.W., Raiman J.A., Wang R.A., Labarthe F., Charrow J., Harmatz P., Chakraborty P., Rosenberg A.S., Kishnani P.S. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile Pompe disease: a step towards improving the efficacy of ERT. PLoS One 2013, 8:e67052.
24. Labrousse P., Chien Y.H., Pomponio R.J., Keutzer J., Lee N.C., Akmaev V.R., Scholl T., Hwu W.L. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. Mol. Genet. Metab. 2010, 99:379-383.
25. Moreland R.J., Jin X., Zhang X.K., Decker R.W., Albee K.L., Lee K.L., Cauthron R.D., Brewer K., Edmunds T., Canfield W.M. Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor. J. Biol. Chem. 2005, 280:6780-6791.