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

NCT00630448 | Withdrawn DMC

• 1 other identifier: 0708009371
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Von Willebrand Disease

Outcome Measures

Primary Outcomes (1)

• Blood outgrowth endothelial cells from peripheral blood

  The number of isolated blood outgrowth endothelial cells from peripheral blood will be calculated

  Through study completion, an average of 1 month

Study Arms (2)

Group 1

Control Group. Normal (healthy) individuals without Von Willebrand Disease.

Group 2

Case Group. Individuals with known Von Willebrand Disease.

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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"

You may qualify if:

• 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"
• 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

You may not qualify if:

• 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)
• 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)

Sponsors & Collaborators

• Weill Medical College of Cornell University: lead

Study Sites (1)

Weill Cornell Medical College

New York, New York, 10021, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood

MeSH Terms

Conditions

von Willebrand Diseases

Condition Hierarchy (Ancestors)

Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Coagulation Protein Disorders; Blood Platelet Disorders; Hemorrhagic Disorders; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Ronald G Crystal

  Weill Medical College of Cornell University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 27, 2008
• First Posted: March 7, 2008
• Study Start: November 1, 2008
• Primary Completion: July 1, 2011
• Study Completion: July 1, 2011
• Last Updated: May 25, 2017

Record last verified: 2017-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)