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A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease.
Mol Genet Metab 2014; 111(2):92-100MG

Abstract

Pompe disease is caused by a deficiency of acid α-glucosidase (GAA; EC, 3.2.1.20), and the infantile-onset form is rapidly fatal if left untreated. However, recombinant human GAA (rhGAA) enzyme replacement therapy (ERT) extends survival for infantile Pompe patients. Although cross-reactive immunologic material (CRIM)-negative patients, who lack detectable endogenous GAA, mount an immune response to rhGAA that renders the therapy ineffective, timely induction of immune tolerance in these patients may improve clinical outcomes. Previously, CRIM status has been determined by Western blot analysis in cultured skin fibroblasts, a process that can take a few weeks. We present a blood-based CRIM assay that can yield results within 48 to 72 h. Results from this assay have been confirmed by GAA Western blot analysis in fibroblasts or by GAA sequencing in a small number of Pompe disease patients. Rapid classification of CRIM status will assist in identifying the most effective treatment course and minimizing treatment delays in patients with infantile-onset Pompe disease.

Authors+Show Affiliations

Integrated Genetics, Esoterix Genetic Laboratories, LLC, a wholly-owned subsidiary of Laboratory Corporation of America® Holdings, 3400 Computer Drive Westborough, MA 01581, USA. Electronic address: Wangz@LabCorp.com.Integrated Genetics, Esoterix Genetic Laboratories, LLC, a wholly-owned subsidiary of Laboratory Corporation of America® Holdings, 3400 Computer Drive Westborough, MA 01581, USA. Electronic address: Okamotp@LabCorp.com.Genzyme Corporation, a Sanofi company, Cambridge, MA, USA. Electronic address: joan.keutzer@genzyme.com.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

24044919

Citation

Wang, Zhaohui, et al. "A New Assay for Fast, Reliable CRIM Status Determination in Infantile-onset Pompe Disease." Molecular Genetics and Metabolism, vol. 111, no. 2, 2014, pp. 92-100.
Wang Z, Okamoto P, Keutzer J. A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. Mol Genet Metab. 2014;111(2):92-100.
Wang, Z., Okamoto, P., & Keutzer, J. (2014). A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. Molecular Genetics and Metabolism, 111(2), pp. 92-100. doi:10.1016/j.ymgme.2013.08.010.
Wang Z, Okamoto P, Keutzer J. A New Assay for Fast, Reliable CRIM Status Determination in Infantile-onset Pompe Disease. Mol Genet Metab. 2014;111(2):92-100. PubMed PMID: 24044919.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. AU - Wang,Zhaohui, AU - Okamoto,Patricia, AU - Keutzer,Joan, Y1 - 2013/08/29/ PY - 2013/07/02/received PY - 2013/08/21/revised PY - 2013/08/22/accepted PY - 2013/9/19/entrez PY - 2013/9/21/pubmed PY - 2014/9/24/medline KW - 4-(2-hydroxyethyl)-1-piperazineethanesulfonic acid KW - ACD KW - ACTB KW - Acid maltase deficiency KW - BSA KW - CRIM KW - Cross-reactive immunologic material KW - DTT KW - ECL KW - EDTA KW - ERT KW - GAA KW - Glycogen storage disease type II KW - HEPES KW - HRP KW - IL-2 KW - IOPD KW - ITI KW - LDS KW - OD KW - PBMC KW - PBS KW - PVDF KW - Pompe disease KW - SDS KW - TBST KW - TBST with 5% nonfat milk KW - TBST-milk KW - acid α-glucosidase KW - bovine serum albumin KW - citrate dextrose-A KW - cross-reactive immunologic material KW - dithiothreitol KW - enhanced chemiluminescence KW - enzyme replacement therapy KW - ethylenediaminetetraacetic acid KW - horseradish peroxidase KW - immune tolerance induction KW - infantile-onset Pompe disease KW - interleukin-2 KW - lithium dodecyl sulfate KW - optical density KW - peripheral blood mononuclear cell KW - phosphate-buffered saline KW - polyvinylidene difluoride KW - recombinant human GAA KW - rhGAA KW - sodium dodecyl sulfate KW - tris-buffered NaCl solution with Tween® 20 KW - β-actin SP - 92 EP - 100 JF - Molecular genetics and metabolism JO - Mol. Genet. Metab. VL - 111 IS - 2 N2 - Pompe disease is caused by a deficiency of acid α-glucosidase (GAA; EC, 3.2.1.20), and the infantile-onset form is rapidly fatal if left untreated. However, recombinant human GAA (rhGAA) enzyme replacement therapy (ERT) extends survival for infantile Pompe patients. Although cross-reactive immunologic material (CRIM)-negative patients, who lack detectable endogenous GAA, mount an immune response to rhGAA that renders the therapy ineffective, timely induction of immune tolerance in these patients may improve clinical outcomes. Previously, CRIM status has been determined by Western blot analysis in cultured skin fibroblasts, a process that can take a few weeks. We present a blood-based CRIM assay that can yield results within 48 to 72 h. Results from this assay have been confirmed by GAA Western blot analysis in fibroblasts or by GAA sequencing in a small number of Pompe disease patients. Rapid classification of CRIM status will assist in identifying the most effective treatment course and minimizing treatment delays in patients with infantile-onset Pompe disease. SN - 1096-7206 UR - https://www.unboundmedicine.com/medline/citation/24044919/A_new_assay_for_fast_reliable_CRIM_status_determination_in_infantile_onset_Pompe_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(13)00300-4 DB - PRIME DP - Unbound Medicine ER -