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

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N=50spearman rho: 0.625, p <0.001

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Non-splenectomized patients (N=54)spearman rho: -0.520; p< 0.001 Platelet count Sx (10E9/L) platelet count non-Sx (10E9/L)

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 patient’s 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, Serviços Genética Médica 3º 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.