Diagnostic Value of Bone Marrow Tryptase in Systemic Mastocytosis (EvaTryMS)
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|ClinicalTrials.gov Identifier: NCT02441166|
Recruitment Status : Completed
First Posted : May 12, 2015
Last Update Posted : July 15, 2019
The hypothesis of the study is that Bone Marrow Tryptase (MT) level is a diagnostic marker of Systemic Mastocytosis (SM). Determination of the bone marrow tryptase in Bone Marrow Aspirate (BMA) could be a new diagnostic criteria for systemic mastocytosis with sensitivity close to 100% and a low false negative rate. This new test could be useful to improve the ability to diagnose accurately systemic mastocytosis (in particular the indolent forms). Because of its limited invasiveness compared to bone marrow biopsy, it could also be considered as a test performed before bone marrow biopsy. Only patients with high bone marrow tryptase would then undergo bone marrow biopsy.
In the future and if validated by this study, bone marrow tryptase could be a useful marker of mast cell load and help to monitor the efficacy of treatment in systemic mastocytosis.
|Condition or disease||Intervention/treatment||Phase|
|Systemic Mastocytosis||Procedure: Mastocytosis diagnosis||Not Applicable|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||250 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Evaluation of the Diagnostic Value of Level of Bone Marrow Tryptase in Adult Systemic Mastocytosis|
|Actual Study Start Date :||October 6, 2015|
|Actual Primary Completion Date :||July 2019|
|Actual Study Completion Date :||July 2019|
For each enrolled subject, 5 mL sample of peripheral blood and 1 mL sample of BM aspirate will be collected the same day to do diagnosis mastocytosis tests (quantification of the kit mutations by qPCR, plasma tryptase level, immunophenotyping of BM mastocytes by flow cytometry, BM tryptase level, degree of dilution of the BM aspirate...) using the WHO criteria as the reference standard.
Procedure: Mastocytosis diagnosis
Some samples will be extracted from bone marrow aspirate and peripheral blood on the inclusion day to do diagnosis tests. WHO criteria will be used as the reference standard.
- Bone marrow tryptase level [ Time Frame: Day 4 after bone marrow aspiration ]Aliquot of the bone marrow aspirate sample will be used after centrifugation for measurements of bone marrow tryptase level.
- The bone marrow tryptase level for differential diagnosis between systemic mastocytosis and cell mast activation syndrome [ Time Frame: Day 4 after bone marrow aspiration ]Aliquot of the bone marrow aspirate sample will be used after centrifugation for measurements of bone marrow tryptase level.
- The bone marrow tryptase/serum tryptase ratio for diagnosis of systemic mastocytosis with and without mastocytosis in skin [ Time Frame: Day 4 after bone marrow aspiration ]
- The absolute and corrected bone marrow tryptase level for diagnosis of systemic mastocytosis with and without mastocytosis in skin [ Time Frame: Day 4 after bone marrow aspiration ]The degree of dilution of the bonne marrow aspirate by peripheral blood will be estimated by comparing the percentage of CD16bright vs CD16low granulocytes in bone marrow samples and used to adjust the bone marrow tryptase.
- Flow cytometry performed on cells collected by bone marrow aspirate and maintained in a preservative solution (TransFix®) to detect mast cells expressing CD25 and/or CD2 for diagnosis of systemic mastocytosis with and without mastocytosis in skin [ Time Frame: Day 4 after bone marrow aspiration ]Immunophenotyping of bone marrow mastocytes will be performed on bone marrow aspiration stabilized by Transfix using a pre-defined mixture of anti-CD45/CD117/CD34/CD2/CD25/CD16 antibodies.
- Quantification of KIT mutations-positive cells fraction in peripheral blood for systemic mastocytosis diagnosis,correlation with results of medullar tryptase level, medullar/systemic tryptase ratio and absolute and corrected medullar tryptase level [ Time Frame: Day 4 after bone marrow aspiration ]Genomic DNA from total leucocytes will be purified from the peripheral blood samples and used for the quantification of the kit mutation by qPCR
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): NCT02441166
|CHU Bordeaux Hôpital Haut-Lévêque, service de dermatologie|
|CHU de Caen, service d'hématologie|
|CHU Dupuytren service d'hématologie|
|CHU Lyon Sud, service de médecine interne|
|Hôpital Necker, service d'hématologie|
|Hôpital Pité Salpétrière|
|CHU Toulouse, Hôpital Larrey, service de dermatologie|
|CHU Fort de France, service de dermatologie|
|Principal Investigator:||Cristina Livideanu, MD||CHU Toulouse|