Thrombocytopathy in Gaucher Disease Patients

NCT ID: NCT01344096

Last Updated: 2016-10-28

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 70 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2010-10-31
• Study Completion Date: 2018-11-30

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

Conditions

Gaucher Disease; Thrombocytopathy

Keywords

Gaucher disease; Thrombocytopathy; Imiglucerase

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Genzyme, a Sanofi Company

INDUSTRY

Sponsor Role: collaborator

Rabin Medical Center

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Ian J Cohen, Prof.

Role: STUDY_CHAIR

Rabin Medical Center

Hagit Baris, MD

Role: STUDY_CHAIR

Rambam Health Care Campus

Locations

Rambam Medical Center

Haifa, , Israel

Site Status: NOT_YET_RECRUITING

Rabin Medical Center

Petah Tikva, , Israel

Site Status: RECRUITING

Countries

Israel

Central Contacts

Monica Weisz Hubshman, MD

Role: CONTACT

Phone: 972-3-9377522

Email: MonicaWe@clalit.org.il

Ian J Cohen, Prof.

Role: CONTACT

Email: icohen@tau.ac.il

Facility Contacts

Hagit Baris, Prof

Role: primary

Ian J Cohen, Prof

Role: backup

Monica Weisz Hubshman, MD

Role: primary

Ian J Cohen, Prof.

Role: backup

References

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.

Reference Type: DERIVED

PMID: 26051481 (View on PubMed)

Other Identifiers

GZGD02507

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

RMC6088

Identifier Type: -

Identifier Source: org_study_id