Anomalies of Dense Platelet Granules (AGRAD)

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Spontaneous Induced Unexplained Haemorrhagic

Treatments: Biological: Standard management of patients suspected of thrombopathy; Other: Haemostasis consultation

Study type: Observational

Funder types: Other

Identifiers

NCT04095715

APHP190393

Details and patient eligibility

About

The study aims to know the overall prevalence of granular deficits and their breakdown by type (anomaly of number, content or secretion) in a population of patients with hemorrhagic symptomatology after exclusion of other known causes.

This study consists also to evaluate the association between the presence of a deficit in dense granules and (1) the intensity of the hemorrhagic phenotype (hemorrhagic score) (2) the nature of hemorrhages (post-operative, spontaneous, atypical...)

-Evaluate the association between the type of deficit in dense granules and (1) the intensity of the hemorrhagic phenotype (hemorrhagic score) (2) the nature of hemorrhages (post-operative, spontaneous, atypical...)

Full description

Patients will be recruited during the exploration visit (v0) or the confirmation/typing visit (v1) according to their follow-up.

• Exploration visit (v0): inclusion of patients without prior platelet exploration, and study of their dense platelet granules.
• Confirmation/typing visit (v1): verification of the persistence of anomalies detected in patients with an abnormality identified during v0 (no later than 6 months after v0) and in patients for whom a dense granules anomaly has already been identified during their standard management prior to the start of the study. Completion of complementary examinations to complement the typing of the granular anomaly and molecular analysis for family cases

Enrollment: 166 patients

Sex: All

Ages: 2+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Adult or child patient ≥ 2 years
• Having a hemorrhagic score ISTH > 3 for men, > 5 for women and > 2 for children.
• With no abnormal coagulation (defined by normal TP and TCK or activity ≥ 50% of FII, FV, FVII, FX, FVIII, FIX, FXI)
• no deficiency of Willebrand factor (defined by a cofactor activity with Ristoctin (VWF: RCo < 50%))
• no a known major thrombocytopenia/thrombopathy linked to a deficiency of one of the major platelet receptors
• Information of the patient and/or his legal representative present

Exclusion criteria

• Inability or refusal of compliance with research requirements
• Thrombocytopenia < 100 G/L
• Treatments interfering with platelet functions within 10 days prior to inclusion
• Malignant hemopathy

Trial design

166 participants in 1 patient group

Children and adults with unexplained hemorrhagic syndrome

Description:

Patients with spontaneous or induced hemorrhagic manifestations who are present for a consultation to investigate a thrombopathy or during follow-up consultations as part of their usual care.

Treatment:

Other: Haemostasis consultation

Biological: Standard management of patients suspected of thrombopathy