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Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease
Deeksha S Bali1, Jennifer L Goldstein1, Catherine Rehder2
1Division of Medical Genetics, Department of Pediatrics, Box 103856, Duke University Health System, Durham, NC 27710, USA.
Insights
Determining cross-reactive immunological material (CRIM) status in infantile Pompe disease (IPD) using peripheral blood mononuclear cells (PBMCs) offers faster results but requires further validation for accuracy compared to traditional fibroblast analysis.
Area of Science:
- Biochemistry
- Genetics
- Immunology
Background:
- Cross-reactive immunological material (CRIM) status is a key prognostic indicator for infantile Pompe disease (IPD) patients undergoing enzyme replacement therapy (ERT).
- Traditionally, CRIM status is determined using Western blot analysis of cultured skin fibroblast lysates, considered the gold standard.
Purpose of the Study:
- To evaluate the utility of peripheral blood mononuclear cell (PBMC) protein for determining CRIM status in IPD patients.
- To compare CRIM status results obtained from PBMCs with established methods and patient genotypes.
Main Methods:
- Protein analysis of peripheral blood mononuclear cells (PBMCs) to assess CRIM status.
- Comparison of PBMC-derived CRIM status with fibroblast CRIM analysis and GAA genotype data.
Main Results:
- CRIM status determination using PBMCs was indeterminate or discordant in 18% (6 of 33) of patients.
- Discordant results were observed when compared to GAA genotype or fibroblast CRIM analysis.
Conclusions:
- While PBMCs offer a faster turnaround time for CRIM determination in IPD, accuracy concerns exist.
- Further research is necessary to validate the reliability of PBMC-based CRIM status assessment before widespread clinical adoption.
Abstract:
Cross-reactive immunological material (CRIM) status is an important prognostic factor in patients with infantile Pompe disease (IPD) being treated with enzyme replacement therapy. Western blot analysis of cultured skin fibroblast lysates has been the gold standard for determining CRIM status. Here, we evaluated CRIM status using peripheral blood mononuclear cell (PBMC) protein. For 6 of 33 patients (18%) CRIM status determination using PBMC was either indeterminate or discordant with GAA genotype or fibroblast CRIM analysis results. While the use of PBMCs for CRIM determination has the advantage of a faster turnaround time, further evaluation is needed to ensure the accuracy of CRIM results.
