Status:

UNKNOWN

Study of Constitutional Platelet Disease

Lead Sponsor:

Assistance Publique Hopitaux De Marseille

Conditions:

Blood Platelet Disease

Eligibility:

All Genders

7+ years

Phase:

NA

Brief 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 throm...

Detailed Description

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 throm...

Eligibility Criteria

Inclusion

  • Adult or minor over 7 years old.
  • Patient and relatives with a constitutional platelet pathology (familial thrombocytopenia resulting in a platelet count \< 150 G.L-1 in several family members and/or familial thrombopathy resulting in platelet dysfunction in several members of a family) for which a genetic variation has been demonstrated but whose deleterious nature remains to be confirmed.
  • Patient and relatives having a constitutional platelet pathology (familial thrombocytopenia resulting in a platelet count \< 150 G.L-1 in several members of the family and/or familial thrombopathy resulting in platelet dysfunction in several members of a family) for which the genetic diagnosis has not revealed any variation potentially implicated in the pathology.

Exclusion

  • Minor under 7 years of age.
  • Patient with no platelet pathology.
  • Patient with platelet disease: non-chronic, non-familial.
  • Patient with a familial platelet disease with a known deleterious mutation.obviously acquired.

Key Trial Info

Start Date :

July 20 2020

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

June 1 2025

Estimated Enrollment :

600 Patients enrolled

Trial Details

Trial ID

NCT04419987

Start Date

July 20 2020

End Date

June 1 2025

Last Update

July 9 2020

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