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Use of Proteomics for the Diagnosis of a Platelet-related Bleeding Disorder

Not Applicable
Completed
Conditions
Inherited Platelet Disorders
Interventions
Other: Blood collection for platelet protein samples
Registration Number
NCT02096523
Lead Sponsor
Ela Shai
Brief Summary

The goal of this study is to identify the platelet defect responsible for the bleeding in families from our inherited platelet disorders Israeli-Palestinian registry. The investigators plan to characterize platelet proteome expression after removing high abundance proteins. The investigators will compare the proteome of sick and healthy members of families with inherited platelet disorders, and identify and validate structural proteins, signaling cascades and biomarkers for detection and diagnosis of unknown platelet disorders. The investigators expect to discover new key findings that allow better understanding of human platelet function and allow better diagnosis and treatment of patients with inherited platelet function disorders.

Detailed Description

Not available

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
4
Inclusion Criteria
  • History of inherited platelet disorders in the family
Exclusion Criteria
  • none

Study & Design

Study Type
INTERVENTIONAL
Study Design
PARALLEL
Arm && Interventions
GroupInterventionDescription
platelet diseaseBlood collection for platelet protein samplespatients with inherited platelet disorders
HealthyBlood collection for platelet protein samplesHealthy family members of patients with inherited platelet disorders
Primary Outcome Measures
NameTimeMethod
Levels of detectable platelet proteins2014-2015 (1 year)

Characterize platelet proteome expression profile

Secondary Outcome Measures
NameTimeMethod
Changes in protein expression from sick and healthy platelets2015-2019 (4 years)

Analysis of platelet proteome of sick and healthy members of families with inherited platelet disorders

Trial Locations

Locations (1)

Hadassah Medical Organization

🇮🇱

Jerusalem, Israel

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