Clinical trial NCT01344096: Thrombocytopathy in Gaucher Disease Patients
Official title: A 1.5 Years Prospective Study Designed to Delineate the Cause of the Thrombocytopathy in Gaucher Disease Patients
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Gaucher Disease
Thrombocytopathy
Keywords: Gaucher disease
Thrombocytopathy
Imiglucerase
Lead sponsor: Rabin Medical Center
Sponsor class: OTHER
Collaborators: name: Genzyme, a Sanofi Company
First posted: 2011-04-28
Enrollment: 70
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Gaucher disease patients treated and untreated wih Imiglucerase

Brief 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.

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 criteria: 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

Primary outcomes:
measure: Measure thrombocytopathy in a cohort of 70 Gaucher patients using a set of platelet function tests.
timeFrame: 3 years
Secondary outcomes:
measure: Evaluating the impact of Imiglucerase treatment on platelet function
timeFrame: 3 years
Other outcomes:
Locations:
city: Haifa
country: Israel
facility: Rambam Medical Center
city: Petach Tikva
country: Israel
facility: Rabin Medical Center
Study officials:
affiliation: Rabin Medical Center
name: Ian J Cohen, Prof.
role: STUDY_CHAIR
affiliation: Rambam Health Care Campus
name: Hagit Baris, MD
role: STUDY_CHAIR
References:
citation: Baris HN, Weisz Hubshman M, Bar-Sever Z, Kornreich L, Shkalim Zemer V, Cohen IJ. Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones. Blood Cells Mol Dis. 2016 Sep;60:65-72. doi: 10.1016/j.bcmd.2015.05.003. Epub 2015 May 9.