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Registry for Vascular Anomalies Associated With Coagulopathy (VAC)

This study is currently recruiting participants.
Verified March 2017 by Beth A Drolet, MD, Medical College of Wisconsin
Sponsor:
ClinicalTrials.gov Identifier:
NCT00576888
First Posted: December 19, 2007
Last Update Posted: March 22, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
Beth A Drolet, MD, Medical College of Wisconsin
  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
Study Design: Observational Model: Other
Time Perspective: Other
Official Title: International Registry for Vascular Anomalies Associated With Coagulopathy

Resource links provided by NLM:


Further study details as provided by Beth A Drolet, MD, 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 ]

Biospecimen Retention:   Samples With DNA
Buccal swab, tissue biopsy if available

Estimated Enrollment: 30
Study Start Date: November 2007
Estimated Study Completion Date: December 2018
Estimated Primary Completion Date: December 2018 (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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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

Responsible Party: Beth A Drolet, MD, Professor of Dermatology and Pediatrics, Medical College of Wisconsin
ClinicalTrials.gov Identifier: NCT00576888     History of Changes
Other Study ID Numbers: CHW07/226
GC567
First Submitted: December 18, 2007
First Posted: December 19, 2007
Last Update Posted: March 22, 2017
Last Verified: March 2017

Keywords provided by Beth A Drolet, MD, 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