Inherited Platelet Disorders
Conditions
Keywords
inherited platelet disorders, proteome
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.
Interventions
OTHERBlood collection for platelet protein samples
Sponsors
Ela Shai
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
3 Years to 85 Years
Healthy volunteers
Yes
Inclusion criteria
* History of inherited platelet disorders in the family
Exclusion criteria
* none
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Levels of detectable platelet proteins | 2014-2015 (1 year) | Characterize platelet proteome expression profile |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Changes in protein expression from sick and healthy platelets | 2015-2019 (4 years) | Analysis of platelet proteome of sick and healthy members of families with inherited platelet disorders |
Other
| Measure | Time frame | Description |
|---|---|---|
| Number of proteins that inducate disease | 2017-2019 (2 years) | Identify and validate a panel of specific biomarkers candidates |
Countries
Israel
Outcome results
None listed