Clinical Trial Details
— Status: Completed
Administrative data
NCT number |
NCT04595617 |
Other study ID # |
CHUBX 2019/41 |
Secondary ID |
|
Status |
Completed |
Phase |
N/A
|
First received |
|
Last updated |
|
Start date |
January 6, 2021 |
Est. completion date |
July 6, 2023 |
Study information
Verified date |
March 2024 |
Source |
University Hospital, Bordeaux |
Contact |
n/a |
Is FDA regulated |
No |
Health authority |
|
Study type |
Interventional
|
Clinical Trial Summary
This project aim to correlate risk factors (genetic, therapeutic and socio-demographic
factors) to anti-αIIbβ3 antibodies formation following blood products transfusion (platelets
or packed red cells) or pregnancy in a national cohort of GT patients.
Description:
Glanzmann thrombasthenia (GT) is a rare autosomal recessive disorder caused by the absence or
the dysfunction of the αIIbβ3 integrin, the most abundant receptor on platelets that mediates
platelet aggregation through its binding of adhesive proteins. GT is readily identifiable by
platelet function testing, and a lack of platelet aggregation in response to all
physiological agonists is unique for this disease. The ITGA2B gene encodes for the αIIb
subunit, whereas the ITGB3 gene encodes for β3. Mutations causing GT can affect either ITGA2B
or ITGB3. The disease is characterized by spontaneous and trauma-related mucocutaneous
bleeding, with variable expression ranging from easy bruising to fatal hemorrhages. Platelet
transfusions are used to control or prevent life-threatening blood loss, but can become
ineffective due to naturally occurring antibodies directed against αIIbβ3. Such antibodies
are produced when patient's immune system comes into contact with normal αIIbβ3 expressing
platelets.
There is no currently consensus concerning the frequency, the long-term evolution, or the
formation of characteristics of antibodies from GT patients in relation to the nature of the
defective gene (ITGA2B or ITGB3), gene variations or other factors. Research are needed to
confirm that nature of the gene defect may have a causative role in antibody development.
Moreover, strength and persistence of antibodies may vary among patients with the same
mutation, suggesting that other factors, such as immune modifiers genes, play a role in
shaping antibody repertoire.
Monoclonal antibody-specific immobilization of platelet antigens (MAIPA) is still considered
as the reference method for evaluating the presence of anti-αIIbβ3 antibodies in GT patients.
All the tests will be performed by the principal investigator site (Bordeaux).