informativo gaucher

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  • Why do the Chitotriosidase?

  • Why a chitotriosidase campaign?

    Chitotriosidase is the best available biomarker for Gaucher disease

    Follow up can lead physicians to re-evaluate:

    Disease deterioration Compliance Right dose

    Chitotriosidase (most studied and more specific of Gaucher cells);

    Chito activity decreases in response to ERT;

    Positive correlations with organ enlargements, platelet count and hemoglobin levels.

    Correlations with Clinical Presentation

    8000

    6000

    4000

    2000

    50000 100000 150000 2000000

    0

    Live

    r vol

    ume

    (ml)

    chitotriosidase activity

    N=50spearman rho: 0.625, p

  • Response to ERT

    ERT response (60 a 120 UI/kg eow) for 2 years:

    Chito reduction: 40 a 70% (depending on the dose)

    ERT response at 30 UI/kg eow for 12 months:

    Chito decrease: 32%

    78% showed at least a 15% decrease

    Chito is absent in 6 8% of GD patients due to a mutation in chito gene.

    Guidelines Monitoring Pediatric Patients

    Increases in chito activity should prompt investigation of disease deterioration and patients compliance

  • Chamoles DBS Price Approx 46 USD

    Address: Uriarte 2383, Capital Federal (1425), Argentina. Phones: +54 11 4774-8615 / +54 11 4778-1622

    HCPA DBS R$120 Approx 40 USD

    Adress: Hospital de Clinicas de Porto Alegre, Servios Gentica Mdica 3 andar - Rua Ramiro Barcelos 2350 Porto Alegre CEP 90035-903 Rio Grande do Sul, Brazil.

    Phones: 0800 510 20 30 / +55 51 3359-08011

    Chamoles

    GD Chitotriosidase Blitz Campain

    HCPA

    DBS (6 spots per patient). Collect drops in filter paper filling circles completely (do not add more than one drop per circle), leave it to air dry at room temperature for 2 hours. Ship in envelop at room temperature.

    All samples must be shipped together with filled request form. Urine and Bloodsamples must not be shipped on Thursdays or Fridays or immediately before or after public holidays.