Thrombocytopathy in Gaucher Disease Patients
|
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
| ClinicalTrials.gov Identifier: NCT01344096 |
|
Recruitment Status :
Recruiting
First Posted : April 28, 2011
Last Update Posted : October 28, 2016
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
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 or disease |
|---|
| Gaucher Disease Thrombocytopathy |
Objectives:
Delineating the cause of the thrombocytopathy in Gaucher disease patients:
- Identifying thrombocytopathy among a cohort of 70 Gaucher patients managed (treated and untreated) in our clinic using a panel of platelets function tests.
- Understanding the etiology for platelets dysfunction in Gaucher disease.
- Evaluating the impact of Imiglucerase treatment duration and Gaucher disease severity on platelet function
| Study Type : | Observational |
| Estimated Enrollment : | 70 participants |
| Observational Model: | Case Control |
| Time Perspective: | Prospective |
| Official Title: | A 1.5 Years Prospective Study Designed to Delineate the Cause of the Thrombocytopathy in Gaucher Disease Patients |
| Study Start Date : | October 2010 |
| Estimated Primary Completion Date : | November 2018 |
| Estimated Study Completion Date : | November 2018 |
- Measure thrombocytopathy in a cohort of 70 Gaucher patients using a set of platelet function tests. [ Time Frame: 3 years ]• 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).
- Evaluating the impact of Imiglucerase treatment on platelet function [ Time Frame: 3 years ]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
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, Learn About Clinical Studies.
| Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01344096
| Contact: Monica Weisz Hubshman, MD | 972-3-9377522 | MonicaWe@clalit.org.il | |
| Contact: Ian J Cohen, Prof. | icohen@tau.ac.il |
| Israel | |
| Rambam Medical Center | Not yet recruiting |
| Haifa, Israel | |
| Contact: Hagit Baris, Prof 972-4-7771286 HB_Feldman@rambam.health.gov.il | |
| Contact: Ian J Cohen, Prof icohen@tau.ac.il | |
| Principal Investigator: Hagit Baris | |
| Rabin Medical Center | Recruiting |
| Petach Tikva, Israel, 49100 | |
| Contact: Monica Weisz Hubshman, MD 972-3-9377522 MonicaWe@clalit.org.il | |
| Contact: Ian J Cohen, Prof. icohen@tau.ac.il | |
| Principal Investigator: Monica Weisz Hubshman, MD | |
| Sub-Investigator: Ian Cohen, Prof. | |
| Study Chair: | Ian J Cohen, Prof. | Rabin Medical Center | |
| Study Chair: | Hagit Baris, MD | Rambam Health Care Campus |
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
| Responsible Party: | Rabin Medical Center |
| ClinicalTrials.gov Identifier: | NCT01344096 History of Changes |
| Other Study ID Numbers: |
RMC6088 GZGD02507 ( Other Grant/Funding Number: Genzyme ) |
| First Posted: | April 28, 2011 Key Record Dates |
| Last Update Posted: | October 28, 2016 |
| Last Verified: | October 2016 |
Keywords provided by Rabin Medical Center:
|
Gaucher disease Thrombocytopathy Imiglucerase |
Additional relevant MeSH terms:
|
Gaucher Disease Blood Platelet Disorders Sphingolipidoses 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 Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders Hematologic Diseases |