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Thrombocytopathy in Gaucher Disease Patients

The recruitment status of this study is unknown because the information has not been verified recently.
Verified July 2010 by Rabin Medical Center.
Recruitment status was  Recruiting
Genzyme, a Sanofi Company
Information provided by:
Rabin Medical Center Identifier:
First received: March 14, 2011
Last updated: April 27, 2011
Last verified: July 2010

In Gaucher disease type I bleeding is a common presenting symptom, that may manifest itself as frequent nose bleeds, easy bruising but can also cause substantial bleeding after surgical or dental procedures and may occur in association with pregnancy or delivery . The bleeding tendency is usually considered to be secondary to thrombocytopenia However 50,000 platelets are enough in healthy people to give a normal bleeding time but are associated with significant bleeding tendencies in Gaucher patients. Bleeding tendency might be attributed by genetic inherited or Gaucher related coagulation factors abnormalities which in some cases stabilize with ERT. However, In other cases the etiology is an abnormality of platelet function. This thrombocytopathy has not been delineated and apart from a few aggregation studies, no systematic analysis has been published that convincingly shows the cause of the disturbed function. While, experience shows that enzyme replacement (ERT, i.e: imiglucerase, Cerezyme®) reduces this bleeding tendency, in part due to the improvement in the thrombocyte count and elevation in coagulation factors, it is less clear what effect ERT has on the thrombocytopathy. This has clinical significance when patients need to be prepared for surgery or delivery or in the event of a major bleed. There is no consensus as to how patients should be prepared or treated. Different centres use different approaches. When the procedure is elective ERT is appropriate but in other situations DDAVP, fresh frozen plasma and platelet infusion are possible treatments. Even activated factor VII has been used when bleeding was not controlled. As in any other coagulation abnormality, treatment should be tailored to the specific cause of the bleeding diathesis. The aim of this study is to define the etiology of platelet dysfunction in Gaucher patients.

Hypothesis: The investigators expect to see a difference between platelets activation profile among imiglucerase treated and untreated patients with at least a partial restoration of platelets function due to treatment commencement.

Gaucher Disease

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: A 3 Years Prospective, Longitudinal Single Centre Study Designed to Delineate the Cause of the Thrombocytopathy in Gaucher Disease Patients

Resource links provided by NLM:

Further study details as provided by Rabin Medical Center:

Primary Outcome Measures:
  • Measure thrombocytopathy in a cohort of 70 Gaucher patients using a set of platelet function tests. [ Time Frame: 3 years ] [ Designated as safety issue: No ]
    • 70 Gaucher patients managed (treated and untreated controls) will be subjected to a panel of platelets function tests (aggregation test, closure time and FACS analysis).

Secondary Outcome Measures:
  • Evaluating the impact of Imiglucerase treatment on platelet function [ Time Frame: 3 years ] [ Designated as safety issue: No ]
    Platelet function during the 3 years of study will be analyzed versus Imiglucerase treatment status and duration taking into consideration genotype, age at diagnosis, spleen status and Gaucher disease severity at treatment initiation

Biospecimen Retention:   Samples Without DNA
Blood Samples

Estimated Enrollment: 70
Study Start Date: October 2010
Estimated Study Completion Date: November 2014
Estimated Primary Completion Date: November 2014 (Final data collection date for primary outcome measure)
Detailed Description:


Delineating the cause of the thrombocytopathy in Gaucher disease patients:

  1. Identifying thrombocytopathy among a cohort of 70 Gaucher patients managed (treated and untreated) in our clinic using a panel of platelets function tests.
  2. Understanding the etiology for platelets dysfunction in Gaucher disease.
  3. Evaluating the impact of Imiglucerase treatment duration and Gaucher disease severity on platelet function

Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Gaucher disease patients treated and untreated wih Imiglucerase

Inclusion Criteria:

  • Gaucher disease patients

Exclusion Criteria:

  • Treatment with enzyme replacement therapy other than Imiglucerase
  Contacts and Locations
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Please refer to this study by its identifier: NCT01344096

Contact: Hagit Baris, MD 972-3-9377522
Contact: Ian J Cohen, Prof.

Rabin Medical Center Recruiting
Petach Tikva, Israel, 49100
Contact: Hagit Baris, MD    972-3-9377522   
Contact: Ian J Cohen, Prof.   
Principal Investigator: Hagit Baris, MD         
Rabin Medical Center Recruiting
Petach Tikva, Israel, 49100
Contact: Hagit Baris, MD    972-3-9377522   
Contact: Ian J Cohen, Prof   
Sponsors and Collaborators
Rabin Medical Center
Genzyme, a Sanofi Company
Study Chair: Ian J Cohen, Prof. Rabin Medical Center
  More Information

Responsible Party: Hagit Baris MD, Rabin Medical Center Identifier: NCT01344096     History of Changes
Other Study ID Numbers: RMC6088  GZGD02507 
Study First Received: March 14, 2011
Last Updated: April 27, 2011
Health Authority: Israel: Ministry of Health

Keywords provided by Rabin Medical Center:
Gaucher disease

Additional relevant MeSH terms:
Gaucher Disease
Blood Platelet Disorders
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Hematologic Diseases processed this record on October 21, 2016