Status:
COMPLETED
Characterization of New Candidate Genes in Cases of Human Inherited Thrombocytopenia (CATCH)
Lead Sponsor:
Institut National de la Santé Et de la Recherche Médicale, France
Conditions:
Thrombocytopenia
Inherited Platelet Disorder
Eligibility:
All Genders
11-65 years
Phase:
NA
Brief Summary
Circulating blood platelets are small cellular elements that help to control bleeding (a process called hemostasis) and to avoid hemorrhage when blood vessels are injured. Platelets originate from cel...
Detailed Description
Circulating blood platelets are essential in the maintenance of vascular integrity and functionality in numerous pathophysiological situations, such as the control of hemorrhagic or thrombotic events....
Eligibility Criteria
Inclusion
- platelet count \< 150.000/µl for at least 6 months
- thrombocytopenia in at least one family member
- weight \> 35 kg
- no pathogenic variant (already reported or suspected) in genes causative for inherited CT
- harboring a variant potentially pathogenic in a gene potentially implicated in the megakaryopoiesis or platelet production, this variant being harbored also by the affected family members, and not by the non-affected family members .
Exclusion
- Pregnant woman
- Subject with an anemia: Hb \< 8g/dl
- Subject with a behavior disorder
- Subject with a hemostasis disease added (Willebrand disease, hemophilia, ...)
- Subject with another suspected cause of thrombopenia (drug, infection, ...)
- Subject taking a drug interfering on the platelet production
- Subject protected by a legal measure
- Subject participating to another program research, leading to larger blood volume than authorized
Key Trial Info
Start Date :
July 7 2020
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
March 21 2024
Estimated Enrollment :
12 Patients enrolled
Trial Details
Trial ID
NCT04272970
Start Date
July 7 2020
End Date
March 21 2024
Last Update
July 30 2024
Active Locations (2)
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1
Resource and Competence Center for Constitutional Hemorrhagic Diseases (CRCMHC), University Hospital Robert Debré
Paris, France, 75019
2
Resource and Competence Center for Constitutional Hemorrhagic Diseases (CRCMHC), University Hospital Pontchaillou
Rennes, France, 35000