Thrombocytopathy in Gaucher Disease Patients

Gaucher Disease Clinical Trial

Official title:

A 1.5 Years Prospective Study Designed to Delineate the Cause of the Thrombocytopathy in Gaucher Disease Patients

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01344096
• Other study ID #: RMC6088
• Secondary ID: GZGD02507
• Status: Recruiting
• Phase: N/A
• First received: March 14, 2011
• Last updated: October 27, 2016
• Start date: October 2010
• Est. completion date: November 2018

Study information

• Verified date: October 2016
• Source: Rabin Medical Center
• Contact: Monica Weisz Hubshman, MD
• Phone: 972-3-9377522
• Email: MonicaWe[@]clalit.org.il
• Is FDA regulated: No
• Health authority: Israel: Ministry of Health
• Study type: Observational

Clinical Trial Summary

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.

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 70
• Est. completion date: November 2018
• Est. primary completion date: November 2018
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• Gaucher disease patients

• Patients who do not receive any medicine that affects platlats

Exclusion Criteria:

• Treatment with enzyme replacement therapy other than Imiglucerase

Study Design

Observational Model: Case Control, Time Perspective: Prospective

Related Conditions & MeSH terms

• Blood Platelet Disorders
• Gaucher Disease
• Thrombocytopathy

Locations

Country	Name	City	State
Israel	Rambam Medical Center	Haifa
Israel	Rabin Medical Center	Petach Tikva

Sponsors (2)

Lead Sponsor	Collaborator
Rabin Medical Center	Genzyme, a Sanofi Company

Country where clinical trial is conducted

Israel, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Measure thrombocytopathy in a cohort of 70 Gaucher patients using a set of platelet function tests.	• 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).	3 years	No
Secondary	Evaluating the impact of Imiglucerase treatment on platelet function	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	3 years	No