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

Ela Shai

Status: Completed

Conditions: Inherited Platelet Disorders

Treatments: Other: Blood collection for platelet protein samples

Study type: Interventional

Funder types: Other

Identifiers

NCT02096523

002714- HMO-CTIL

Details and patient eligibility

About

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.

Enrollment: 4 patients

Sex: All

Ages: 3 to 85 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• History of inherited platelet disorders in the family

Exclusion criteria

• none

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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4 participants in 2 patient groups

platelet disease

Experimental group

Description:

patients with inherited platelet disorders

Treatment:

Other: Blood collection for platelet protein samples

Healthy

Experimental group

Description:

Healthy family members of patients with inherited platelet disorders

Treatment:

Other: Blood collection for platelet protein samples