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Registry for Vascular Anomalies Associated With Coagulopathy (VAC)
This study is currently recruiting participants.
Verified by Medical College of Wisconsin, December 2008
First Received: December 18, 2007   Last Updated: December 31, 2008   History of Changes
Sponsored by: Medical College of Wisconsin
Information provided by: Medical College of Wisconsin
ClinicalTrials.gov Identifier: NCT00576888
  Purpose

PURPOSE The purpose of this study is to learn more about multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT). MLT is a rare vascular disorder characterized by multiple congenital skin and visceral lesions, profound thrombocytopenia, and gastrointestinal bleeding. The skin lesions may appear red, brown or blue, often misdiagnosed as hemangiomas. The gastrointestinal tract, liver, and lungs are the most common internal organs involved. The severe thrombocytopenia (low platelets) is believed to be the result of platelet trapping within the skin and visceral vascular lesions. Severe and chronic gastrointestinal bleeding is common during infancy and early childhood. Although a relatively newly described entity, MLT was likely previously reported as hemangiomas, blue rubber bleb nevus syndrome, diffuse hemangiomatosis, Kasabach-Merritt phenomenon, and hereditary hemorrhagic telangiectasia. The term cutaneovisceral angiomatosis with thrombocytopenia is also a term used for this same disease. This study is a longitudinal cohort study of MLT to collect detailed clinical data on the distribution of disease, disease severity, and complications. This data will be used to create diagnostic criteria and an evaluation protocol for infants with this disease


Condition Intervention
Multifocal Lymphangioendotheliomatosis With Thrombocytopenia
Cutaneovisceral Angiomatosis With Thrombocytopenia
Vascular Anomaly With Thrombocytopenia
Hemangiomas
Other: no intervention

Genetics Home Reference related topics: hemophilia
MedlinePlus related topics: Bleeding Disorders Moles
U.S. FDA Resources
Study Type: Observational
Official Title: International Registry for Vascular Anomalies Associated With Coagulopathy

Further study details as provided by Medical College of Wisconsin:

Biospecimen Retention:   Samples With DNA

Biospecimen Description:

Buccal swab, tissue biopsy if available


Estimated Enrollment: 30
Study Start Date: November 2007
Estimated Study Completion Date: December 2009
Groups/Cohorts Assigned Interventions
Vascular Anomaly with Coagulopathy
All patients diagnosed with Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) or with a vascular anomaly with coagulopathy
Other: no intervention
no intervention - observational only

Detailed Description:

After informed consent is obtained a detailed question will be mailed to participating patients and families. This questionnaire will also be available electronically through an educational website. Data collected will include photographs of skin lesions, video images of gastrointestinal lesions, demographic data, clinical information, therapeutic interventions, glass slides of tissue biopsies, and collection of DNA. Enrollment will be patient family driven and modeled after several successful registries of rare diseases.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

All patients diagnosed with Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) or with a vascular anomaly with coagulopathy

Criteria

Inclusion Criteria:

  • Subjects with a vascular anomaly with coagulopathy

Exclusion Criteria:

  • Subjects without a vascular anomaly with coagulopathy
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00576888

Contacts
Contact: Kelly J Duffy, PhD (414) 456-4078 kduffy@mcw.edu

Locations
United States, Wisconsin
Medical College of Wisconsin Recruiting
Milwaukee, Wisconsin, United States, 53226
Contact: Kelly J Duffy, PhD     414-456-4078     kduffy@mcw.edu    
Sponsors and Collaborators
Medical College of Wisconsin
Investigators
Principal Investigator: Beth Drolet, MD Medical College of Wisconsin
Principal Investigator: Ulrich Broeckel, MD Medical College of Wisconsin
Principal Investigator: Howard Jacob, PhD Medical College of Wisconsin
Principal Investigator: Michael Kelly, MD, PhD Medical College of Wisconsin
Principal Investigator: Richard Noel, MD, PhD Medical College of Wisconsin
Principal Investigator: Paula North, MD, PhD Medical College of Wisconsin
Principal Investigator: Kelly Duffy, PhD Medical College of Wisconsin
  More Information

Additional Information:
No publications provided

Responsible Party: Medical College of Wisconsin ( Beth Drolet )
Study ID Numbers: CHW07/226, GC567
Study First Received: December 18, 2007
Last Updated: December 31, 2008
ClinicalTrials.gov Identifier: NCT00576888     History of Changes
Health Authority: United States: Institutional Review Board

Keywords provided by Medical College of Wisconsin:
Multifocal lymphangioendoltheliomatosis with thrombocytopenia
Cutaneovisceral angiomatosis with thrombocytopenia
Vascular anomaly with thrombocytopenia
Hemangiomas
Hemangiomatosis
Lymphatic malformation
Kasabach-Merritt
Blue-rubber bleb nevus
Angiomatosis

Study placed in the following topic categories:
Lymphatic Abnormalities
Angiomatosis
Cardiovascular Abnormalities
Hematologic Diseases
Blood Coagulation Disorders
Blood Platelet Disorders
Vascular Diseases
Hemostatic Disorders
Blister
Thrombocytopathy
Thrombocytopenia
Nevus, Pigmented
Vascular Malformations
Hemangioma
Nevus
Congenital Abnormalities

Additional relevant MeSH terms:
Angiomatosis
Neoplasms by Histologic Type
Cardiovascular Abnormalities
Hematologic Diseases
Blood Platelet Disorders
Vascular Diseases
Neoplasms
Thrombocytopenia
Vascular Malformations
Hemangioma
Neoplasms, Vascular Tissue
Cardiovascular Diseases
Congenital Abnormalities

ClinicalTrials.gov processed this record on May 07, 2009