Paroxysmal Nocturnal Hemoglobinuria in ESUS & ETUS
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|ClinicalTrials.gov Identifier: NCT03329365|
Recruitment Status : Not yet recruiting
First Posted : November 6, 2017
Last Update Posted : November 6, 2017
|Condition or disease|
|Paroxysmal Nocturnal Hemoglobinuria Embolic Stroke of Undetermined Source Transient Ischemic Attack Cerebral Vein Thrombosis|
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal hematological disorder leading to red blood cells hemolysis and thrombosis. PNH has been reported to be the cause of cerebral venous thrombosis and embolic ischemic strokes and is sometimes diagnosed after the ischemic event. In young patients with embolic ischemic stroke of undetermined source (ESUS), thrombophilia is usually investigated. However, access to PNH testing is limited. PNH is rarely investigated in stroke patients and its contribution to the pathophysiology of ESUS is unknown. The investigators hypothesize that this condition is underdiagnosed, resulting in potential preventive opportunities being lost, since PNH can be successfully treated.
This observational study aims to determine the frequency of PNH among young (≤50 years old) patients with recent ESUS or embolic transient ischemic attacks (TIA) of undetermined source (ETUS) and patients with SSS-CVT of undetermined source (SSS-CVTUS).
Patients with ESUS or ETUS will be first screened for: (a) evidence of hemolysis based on their plasma lactate dehydrogenase (LDH) levels, (b) unexplained anemia based on their hemoglobin (Hb) levels, and (c) unexplained cytopenia (e.g., neutropenia and thrombocytopenia). Flow cytometry analysis for PNH will be performed with blood samples collected from subjects with abnormal level of plasma LDH (1.5X ULN) or unexplained anemia or cytopenia.
Patients with SSS-CVTUS will undergo flow cytometry without prior screening.
In addition, plasma and DNA samples will be collected in an optional sub-study for future analysis of DNA mutations related to specific PNH phenotypes in patients with stroke.
|Study Type :||Observational|
|Estimated Enrollment :||200 participants|
|Official Title:||Paroxysmal Nocturnal Hemoglobinuria and Embolic Strokes of Undetermined Source (ESUS) and Transient Ischemic Attacks of Undetermined Source (ETUS)|
|Estimated Study Start Date :||January 2018|
|Estimated Primary Completion Date :||January 2020|
|Estimated Study Completion Date :||January 2020|
Patients with embolic ischemic stroke or transient ischemic attack of undetermined source
Patients with superior sagittal sinus cerebral venous thrombosis of undetermined source
- Frequency of PNH in ESUS/ETUS/SSS-CVTUS [ Time Frame: At recruitment ]Percentage of patients with flow-cytometry-confirmed PNH
- Frequency of PNH in ESUS/ETUS [ Time Frame: At recruitment ]Percentage of ESUS/ETUS patients with flow-cytometry-confirmed PNH
- Frequency of PNH in SSS-CVT [ Time Frame: At recruitment ]Percentage of SSS-CVTUS patients with flow-cytometry-confirmed PNH
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03329365
|Contact: Maryse Paquet, PhD||519-685-8500 ext 35826||Maryse.Paquet@lhsc.on.ca|
|Principal Investigator:||Luciano A Sposato, MD||London Health Sciences Center, Western University|