Collection of Blood in Normal Subjects and Subjects With Von Willebrand Disease (VWD)

This study has been withdrawn prior to enrollment.
(Prinicipal Investigator initiated study closure.)
Sponsor:
Information provided by (Responsible Party):
Weill Medical College of Cornell University
ClinicalTrials.gov Identifier:
NCT00630448
First received: February 27, 2008
Last updated: May 3, 2016
Last verified: May 2016
  Purpose

Von Willebrand disease is an inherited bleeding disorder that impacts the blood's ability to clot properly. Von Willebrand disease is cause by the lack or not working substance in the blood known as Von Willebrand factor.

Current therapy for Von Willebrand disease includes desmopressin acetate (DDAVP) and /or VWF/FVIII concentrates. Patients with severe Von Willebrand disease face a lifetime of weekly treatments and mounting medical bills. Gene therapy could help these patients improve their quality of life by providing the missing factors necessary for the blood's ability to clot properly.

The gene transfer options being studied include naked DNA, viral gene transfer vectors encoding Von Willebrand factor transgenes, and ex vivo cell therapy. The latter involves transplantation of the patient's own cells modified with a corrected copy of the defective gene. Human blood outgrowth endothelial cells (BOEC) display all the properties needed for successful ex vivo cell therapy. We plan to obtain blood samples from normal research subjects and patients with Von Willebrand Disease in order to isolate blood outgrowth endothelial cells (BOEC) from peripheral blood, and develop a ex vivo gene therapy for Von Willebrand Disease.


Condition
Von Willebrand Disease

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Collection of Blood in Normal Subjects and Subjects With Von Willebrand Disease (VWD)

Resource links provided by NLM:


Further study details as provided by Weill Medical College of Cornell University:

Primary Outcome Measures:
  • The number of isolated blood outgrowth endothelial cells from peripheral blood [ Time Frame: Day 0 to Baseline ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA
Blood

Enrollment: 0
Study Start Date: November 2008
Estimated Study Completion Date: October 2010
Estimated Primary Completion Date: July 2010 (Final data collection date for primary outcome measure)
Groups/Cohorts
Group 1
Control Group. Normal (healthy) individuals without Von Willebrand Disease.
Group 2
Case Group. Individuals with known Von Willebrand Disease.

Detailed Description:

Aim: The purpose of this protocol is to obtain blood samples from normal research subjects and patients with Von Willebrand disease in order to isolate blood outgrowth endothelial cells (BOEC) from peripheral blood, and develop a ex vivo gene transfer for Von Willebrand disease.

Experimental procedure. This protocol is designed to gather approximately 90 ml (6 tablespoons) of blood from normal individuals without Von Willebrand disease and individuals with known Von Willebrand disease. A total of 20 normal individuals and 20 Von Willebrand disease patients will be enrolled into the study.

Studies to be performed on the blood samples:

Each blood draw will require 10 large blue/black capped (Na Citrate) vacutainer (16x125mm, BD# 362761, Cell Preparation Tubes (CPT) to be filled from each volunteer. All the blood will be used for cell processing.

In initial proof-of-concept experiments, BOEC lines will be established from the peripheral blood of normal individuals and research subjects with Von Willebrand disease. Following culture and phenotypic characterization, they will be transduced with a lentivirus gene transfer vector expressing a reporter gene or wild-type Von Willebrand factor. After demonstrating successful transduction, the next step will be to write an animal protocol that will introduce the modified cells into immunocompromised mice and monitor the mice for stable implantation.

  Eligibility

Ages Eligible for Study:   18 Years to 70 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Source of subjects will be the population of individuals with known Von Willebrand Disease and the normal population from protocol #0005004439 entitled "Evaluation of the Lungs of Normal (Smokers, Ex-smokers, Non-smokers) Individuals with Segmental Bronchopulmonary Lung Lavage, Bronchial Brushing, and Bronchial Wall Biopsy"
Criteria

Inclusion Criteria:

  1. Normal subjects:

    - study individuals will be taken from those enrolled in Weill-IRB protocol #0005004439 entitled "Evaluation of the Lungs of Normal (Smokers, Ex-smokers, Non-smokers) Individuals with Segmental Bronchopulmonary Lung Lavage, Bronchial Brushing, and Bronchial Wall Biopsy"

  2. Subjects with von Willebrand Disease

    • a definitive diagnosis on VWD from a patient's physician
    • all subjects should be able to provide informed consent
    • males or females 18-70 years of age

Exclusion Criteria:

  1. Normal individuals

    • individuals with a history of bleeding disorders
    • individuals with anemia (defined as females with an Hgb concentration less than 12 and males with an HgB concentration less than 12.5)
  2. Subjects with VWD

    • females who are pregnant will not be accepted into the study
    • individuals with anemia (defined as females with an Hgb concentration less than 12 and males with an Hgb concentration less than 12.5)
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00630448

Locations
United States, New York
Weill Cornell Medical College
New York, New York, United States, 10021
Sponsors and Collaborators
Weill Medical College of Cornell University
Investigators
Principal Investigator: Ronald G Crystal Weill Medical College of Cornell University
  More Information

Responsible Party: Weill Medical College of Cornell University
ClinicalTrials.gov Identifier: NCT00630448     History of Changes
Other Study ID Numbers: 0708009371 
Study First Received: February 27, 2008
Last Updated: May 3, 2016
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Von Willebrand Diseases
Blood Coagulation Disorders
Blood Coagulation Disorders, Inherited
Blood Platelet Disorders
Coagulation Protein Disorders
Genetic Diseases, Inborn
Hematologic Diseases
Hemorrhagic Disorders

ClinicalTrials.gov processed this record on May 26, 2016