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    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.

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    Date
    2013
    Authors
    Banugaria, SG
    Prater, SN
    Patel, TT
    Dearmey, Stephanie
    Milleson, Christie
    Sheets, KB
    Bali, Deeksha Sarihyan
    Rehder, Catherine
    Raiman, JAJ
    Wang, RA
    Labarthe, F
    Charrow, J
    Harmatz, P
    Chakraborty, P
    Rosenberg, AS
    Kishnani, Priya Sunil
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    Abstract
    OBJECTIVE: Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount a strong immune response which abrogates the efficacy of ERT, resulting in clinical decline and death. This study was designed to demonstrate that immune tolerance induction (ITI) prevents or diminishes the development of antibody titers, resulting in a better clinical outcome compared to CN IPD patients treated with ERT monotherapy. METHODS: We evaluated the safety, efficacy and feasibility of a clinical algorithm designed to accurately identify CN IPD patients and minimize delays between CRIM status determination and initiation of an ITI regimen (combination of rituximab, methotrexate and IVIG) concurrent with ERT. Clinical and laboratory data including measures of efficacy analysis for response to ERT were analyzed and compared to CN IPD patients treated with ERT monotherapy. RESULTS: Seven CN IPD patients were identified and started on the ITI regimen concurrent with ERT. Median time from diagnosis of CN status to commencement of ERT and ITI was 0.5 months (range: 0.1-1.6 months). At baseline, all patients had significant cardiomyopathy and all but one required respiratory support. The ITI regimen was safely tolerated in all seven cases. Four patients never seroconverted and remained antibody-free. One patient died from respiratory failure. Two patients required another course of the ITI regimen. In addition to their clinical improvement, the antibody titers observed in these patients were much lower than those seen in ERT monotherapy treated CN patients. CONCLUSIONS: The ITI regimen appears safe and efficacious and holds promise in altering the natural history of CN IPD by increasing ERT efficacy. An algorithm such as this substantiates the benefits of accelerated diagnosis and management of CN IPD patients, thus, further supporting the importance of early identification and treatment initiation with newborn screening for IPD.
    Type
    Journal article
    Subject
    Algorithms
    Antibodies, Monoclonal, Murine-Derived
    Clinical Laboratory Techniques
    Cross Reactions
    Early Diagnosis
    Enzyme Replacement Therapy
    Female
    Glycogen Storage Disease Type II
    Humans
    Immunoglobulins
    Immunosuppression
    Infant
    Infant, Newborn
    Male
    Methotrexate
    Rituximab
    Safety
    Time Factors
    Treatment Outcome
    Permalink
    https://hdl.handle.net/10161/15373
    Published Version (Please cite this version)
    10.1371/journal.pone.0067052
    Publication Info
    Banugaria, SG; Prater, SN; Patel, TT; Dearmey, Stephanie; Milleson, Christie; Sheets, KB; ... Kishnani, Priya Sunil (2013). 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, 8(6). pp. e67052. 10.1371/journal.pone.0067052. Retrieved from https://hdl.handle.net/10161/15373.
    This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.
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    Scholars@Duke

    Deeksha Sarihyan Bali

    Professor of Pediatrics
    1)Development of new non-invasive laboratory diagnostic methods using enzymology and molecular diagnostic techniques for Glycogen Storage Diseases (GSDs) and Lysoosmal Storage Diseases (LSDs) like Pompe, Fabry, Gaucher, MPS - for early diagnosis and treatment modalities. Exploration of new high throughput diagnostic platforms with an idea of implementation into New born screening (NBS)of these diseases. 2)Clinical research studies associated with Pompe disease with a goal to imp
    Kishnani

    Priya Sunil Kishnani

    Chen Family Professor of Pediatrics
    RESEARCH INTERESTS A multidisciplinary approach to care of individuals with genetic disorders in conjunction with clinical and bench research that contributes to: 1) An understanding of the natural history and delineation of long term complications of genetic disorders 2) The development of new therapies for genetic disorders through translational research 3) The development and execution of large multicenter trials to confirm safety and efficacy of potential th
    Rehder

    Rebeccah Catherine Rehder

    Associate Professor of Pathology
    Alphabetical list of authors with Scholars@Duke profiles.
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