Thrombocytopathy in Gaucher Disease Patients

NCT01344096 | Unknown

• 2 other identifiers: RMC6088GZGD02507
• Study Type: observational
• Target: 70
• Locations: 1 country
• Sites: 2

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.

Conditions

Gaucher Disease; Thrombocytopathy

Keywords

Gaucher disease; Thrombocytopathy; Imiglucerase

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (1)

• Evaluating the impact of Imiglucerase treatment on platelet function

  3 years

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Gaucher disease patients treated and untreated wih Imiglucerase

You may qualify if:

• Gaucher disease patients
• Patients who do not receive any medicine that affects platlats

You may not qualify if:

• Treatment with enzyme replacement therapy other than Imiglucerase

Sponsors & Collaborators

• Rabin Medical Center: lead
• Genzyme, a Sanofi Company: collaborator

Study Sites (2)

Rambam Medical Center

Haifa, Israel

NOT YET RECRUITING

Rabin Medical Center

Petah Tikva, 49100, Israel

RECRUITING

Related Publications (1)

• 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.

  PMID: 26051481 DERIVED

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood Samples

MeSH Terms

Conditions

Gaucher Disease; Blood Platelet Disorders

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases

Study Officials

• Ian J Cohen, Prof.

  Rabin Medical Center

  STUDY CHAIR

• Hagit Baris, MD

  Rambam Health Care Campus

  STUDY CHAIR

Central Study Contacts

Monica Weisz Hubshman, MD

CONTACT

972-3-9377522; MonicaWe@clalit.org.il

Ian J Cohen, Prof.

CONTACT

icohen@tau.ac.il

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 14, 2011
• First Posted: April 28, 2011
• Study Start: October 1, 2010
• Primary Completion: November 1, 2018
• Study Completion: November 1, 2018
• Last Updated: October 28, 2016

Record last verified: 2016-10

Locations

IL (2)