Thrombocytopathy in Gaucher Disease Patients

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2010 by Rabin Medical Center
Sponsor:
Collaborator:
Genzyme, a Sanofi Company
Information provided by:
Rabin Medical Center
ClinicalTrials.gov Identifier:
NCT01344096
First received: March 14, 2011
Last updated: April 27, 2011
Last verified: July 2010
  Purpose

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.


Condition
Gaucher Disease
Thrombocytopathy

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:

Objectives:

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
  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Gaucher disease patients treated and untreated wih Imiglucerase

Criteria

Inclusion Criteria:

  • Gaucher disease patients

Exclusion Criteria:

  • Treatment with enzyme replacement therapy other than Imiglucerase
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01344096

Contacts
Contact: Hagit Baris, MD 972-3-9377522 Barish@clalit.org.il
Contact: Ian J Cohen, Prof. icohen@tau.ac.il

Locations
Israel
Rabin Medical Center Recruiting
Petach Tikva, Israel, 49100
Contact: Hagit Baris, MD    972-3-9377522    Barish@clalit.org.il   
Contact: Ian J Cohen, Prof.       icohen@tau.ac.il   
Principal Investigator: Hagit Baris, MD         
Rabin Medical Center Recruiting
Petach Tikva, Israel, 49100
Contact: Hagit Baris, MD    972-3-9377522    Barish@clalit.org.il   
Contact: Ian J Cohen, Prof       icohen@tau.ac.il   
Sponsors and Collaborators
Rabin Medical Center
Genzyme, a Sanofi Company
Investigators
Study Chair: Ian J Cohen, Prof. Rabin Medical Center
  More Information

No publications provided

Responsible Party: Hagit Baris MD, Rabin Medical Center
ClinicalTrials.gov 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
Thrombocytopathy
Imiglucerase

Additional relevant MeSH terms:
Gaucher Disease
Blood Platelet Disorders
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Genetic Diseases, Inborn
Hematologic Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Lipidoses
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Sphingolipidoses

ClinicalTrials.gov processed this record on October 21, 2014