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Study of Constitutional Platelet Disease

NCT04419987 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 600

Last updated 2020-07-09

No results posted yet for this study

Summary

Platelets are circulating blood cells. They bind to each other and to the wall of the damaged vessel to prevent excessive blood loss.

Platelets can be :

* insufficient in number in the case of thrombocytopenia;
* or non-functional in the case of thrombopathy. Constitutional thrombopathies and thrombopenias are rare diseases. Constitutional thrombopenias cause haemorrhage of variable intensity and are sometimes a sign of more serious haematological pathologies. The evolutionary risk of some constitutional thrombopenias is the appearance of myelofibrosis, dysmyelopoiesis or malignant proliferation. While the evolutionary stakes of some thrombopenias and especially syndromic thrombopenias will be more likely to affect other organs (kidney, heart, bones, brain, ...), other constitutional thrombopenias will have few consequences. Their diagnosis will then have the major challenge of distinguishing them from immunological thrombopenias and avoiding the use of inappropriate and sometimes severe treatments (corticosteroids, IV immunoglobulins, immunosuppressants, splenectomy). Mutations in more than forty genes have been identified to date and are responsible for thrombocytopenia.

Constitutional thrombopathies are heterogeneous and may involve different platelet constituents. In short, when platelets are stimulated at a lesion site, various soluble or matrix agonists bind to platelet receptors to induce calcium flow, secretion and platelet aggregation at a vascular gap to prevent blood loss. Constitutional thrombopathies are primarily at risk of spontaneous or induced mucocutaneous bleeding. Some thrombopathies are also part of more complex syndromic patterns. In recent decades, considerable progress has been made in the understanding of thrombopathies, enabling them to be better identified. Details have been provided on platelet dysfunctions linked to abnormalities in the processes of granule biogenesis and secretion, and to signalling defects (in particular surface receptor deficiency). Currently, more than thirty genes are the site of autosomal dominant, recessive or X-linked mutations and can be sequenced.

Conditions

  • Blood Platelet Disease

Interventions

GENETIC

draw blood

search for new genetic variations (when the diagnostic exploration will have been non informative) by sequencing exons.

Sponsors & Collaborators

  • Assistance Publique Hopitaux De Marseille

    lead OTHER

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
7 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2020-07-20
Primary Completion
2020-12-20
Completion
2025-06-01

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04419987 on ClinicalTrials.gov