Registry for Vascular Anomalies Associated With Coagulopathy (VAC)

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2013 by Medical College of Wisconsin
Sponsor:
Information provided by (Responsible Party):
Beth Drolet, Medical College of Wisconsin
ClinicalTrials.gov Identifier:
NCT00576888
First received: December 18, 2007
Last updated: September 17, 2013
Last verified: September 2013
  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

Study Type: Observational
Official Title: International Registry for Vascular Anomalies Associated With Coagulopathy

Resource links provided by NLM:


Further study details as provided by Medical College of Wisconsin:

Primary Outcome Measures:
  • Number of patients with genetic mutations, copy number variations and/or expression analysis [ Time Frame: After DNA collected and batches are sent for analysis ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Buccal swab, tissue biopsy if available


Estimated Enrollment: 30
Study Start Date: November 2007
Estimated Study Completion Date: December 2015
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
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
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: NCT00576888

Contacts
Contact: Beth A Drolet, MD (414) 955-2819 bdrolet@mcw.edu

Locations
United States, Wisconsin
Medical College of Wisconsin Recruiting
Milwaukee, Wisconsin, United States, 53226
Contact: Beth A Drolet, MD    414-955-2818    bdrolet@mcw.edu   
Contact: Shawna Joachim    414-955-2817    sjoachim@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
  More Information

Additional Information:
No publications provided

Responsible Party: Beth Drolet, Professor of Dermatology and Pediatrics, Medical College of Wisconsin
ClinicalTrials.gov Identifier: NCT00576888     History of Changes
Other Study ID Numbers: CHW07/226, GC567
Study First Received: December 18, 2007
Last Updated: September 17, 2013
Health Authority: United States: Institutional Review Board

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

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

ClinicalTrials.gov processed this record on September 16, 2014