Gaucher DiseaseNCT01344096
Thrombocytopathy in Gaucher Disease Patients
An observational study of Gaucher Disease and Thrombocytopathy, run by Rabin Medical Center at 2 sites in Israel.
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 . Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Gaucher Disease, Thrombocytopathy
- How many people
- 70 participants
- Where
- 2 sitesIsrael
- Study dates
- Oct 2010to Nov 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Gaucher disease patients treated and untreated wih Imiglucerase
Who may be able to join
- Gaucher disease patients
- Patients who do not receive any medicine that affects platlats
Who cannot join
- Treatment with enzyme replacement therapy other than Imiglucerase
Trial locations and contacts
2 sites in 1 country.
Ian J Cohen, Prof. contact
Israel2 sites, 2 recruiting
- Not yet recruiting
Rambam Medical Center
Haifa
Hagit Baris, Prof, 972-4-7771286, HB_Feldman@rambam.health.gov.il
Ian J Cohen, Prof, icohen@tau.ac.il
- Recruiting
Rabin Medical Center
Petah Tikva, 49100
Monica Weisz Hubshman, MD, 972-3-9377522, MonicaWe@clalit.org.il
Ian J Cohen, Prof., icohen@tau.ac.il
About this study
Official title: A 1.5 Years Prospective Study Designed to Delineate the Cause of the Thrombocytopathy in Gaucher Disease Patients
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.
Read the detailed description
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
- Conditions
- Gaucher Disease, Thrombocytopathy
- Keywords
- Gaucher disease, Thrombocytopathy, Imiglucerase
- Medical subject headings
- Gaucher Disease, Blood Platelet Disorders
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 3 years
Secondary outcomes (1)
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
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Apr 2011 (estimated)
- Study startOct 2010
- Primary completionNov 2018 (estimated)
- Study completionNov 2018 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 70 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Rabin Medical Center
- Sponsor type
- University, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Responsible party
- Sponsor
- Investigators
- Ian J Cohen, Prof., Study chair, Rabin Medical CenterHagit Baris, MD, Study chair, Rambam Health Care Campus
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01344096
- Sponsor's protocol ID
- RMC6088
- Other IDs
- GZGD02507
- Status last verified
- Oct 2016
- First submitted
- 14 Mar 2011
- Last updated
- 28 Oct 2016
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 26051481
Study at a glance
From the registry record, last updated by the sponsor on 28 Oct 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A 1.5 Years Prospective Study Designed to Delineate the Cause of the Thrombocytopathy in Gaucher Disease Patients
- ClinicalTrials.gov ID
- NCT01344096
- Acronym / sponsor ID
- RMC6088
- Conditions
- Gaucher Disease, Thrombocytopathy
- Keywords
- Gaucher disease, Thrombocytopathy, Imiglucerase
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 70 participants (estimated)
- Lead sponsor
- Rabin Medical CenterUniversity, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Study start
- Oct 2010
- Primary completion
- Nov 2018 (estimated)
- Study completion
- Nov 2018 (estimated)
- First posted
- 28 Apr 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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 design
- Observational model
- Case-control
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Gaucher disease patients treated and untreated wih Imiglucerase
Key inclusion criteria (2 listed)
- Gaucher disease patients
- Patients who do not receive any medicine that affects platlats
Key exclusion criteria (1 listed)
- Treatment with enzyme replacement therapy other than Imiglucerase
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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).
1 secondary outcome
Evaluating the impact of Imiglucerase treatment on platelet function
Time frame: 3 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Oct 2016.
- Derived from this study: PubMed 26051481Baris 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Ian J Cohen, Prof. contact
Ian J Cohen, Prof. study chair
Rabin Medical Center
Hagit Baris, MD study chair
Rambam Health Care Campus
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease and Thrombocytopathy, run by Rabin Medical Center at 2 sites in Israel.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 28 Oct 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Israel. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Monica Weisz Hubshman, MD (972-3-9377522, MonicaWe@clalit.org.il), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Measure thrombocytopathy in a cohort of 70 Gaucher patients using a set of platelet function tests. (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01344096, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Oct 2016.