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Genetic Background of Patients With Low Von Willebrand Factor Levels

NCT05116501 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 300

Last updated 2022-03-04

No results posted yet for this study

Summary

Von Willebrand disease (VWD) is caused by either quantitative or qualitative von Willebrand (VWF) defects and is the commonest inherited bleeding disorder with an estimated prevalence of about 1% in the general population. According to several guidelines, patients with a mild quantitative reduction in VWF (30-50 IU/dL) should be labeled as "low VWF". Quantitatively VWF defects account for almost 75% of all cases with VWD and among them, low VWF seems to be the most common form. Studies on patients with VWD reported only around 50% VWF mutations in low VWF cases indicating that some possible genes outside of the VWF gene may be responsible for the low VWF levels. To date, using genome-wide association study (GWAS) more than 19 non-VWF loci (such as ABO blood group system, Stabilin 2, Scavenger Receptor Class A Member 5, C-Type Lectin Domain Family 4 Member M, etc.) were identified to be associated with VWF levels. The identified genes are related to different mechanisms of the VWF life-cycle such as synthesis, secretion, glycosylation, or clearance. Despite the importance of the genetic background of low VWF levels for understanding its etiology, this issue is not well investigated yet. Thus the Low VWF Milan Cohort (LOVMIC) Study is designed to address some unanswered questions in patients with low VWF.

Conditions

  • Low Von Willebrand Factor

Interventions

DIAGNOSTIC_TEST

Whole-exome sequencing

Whole Exome Sequencing (WES), as a comprehensive genetic test, will be used to identify changes in a patient's DNA that are causative or related to patient's low VWF levels.

Sponsors & Collaborators

  • Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

    lead OTHER

Principal Investigators

  • Flora Peyvandi, MD, PhD · A.Bonomi Hemophilia and Thrombosis Center, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico

Study Design

Allocation
NON_RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2022-03-01
Primary Completion
2022-10-30
Completion
2023-05-30

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05116501 on ClinicalTrials.gov