Registry for Vascular Anomalies Associated With Coagulopathy

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

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Key information

Conditions

Multifocal Lymphangioendotheliomatosis With Thrombocytopenia Angiomatosis Blood Platelet Disorders Blue rubber bleb nevus syndrome Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cutaneovisceral Angiomatosis With Thrombocytopenia Cytopenia Hemangioma Hemangiomas Hematologic Diseases Hemic and Lymphatic Diseases Lymphatic Abnormalities Lymphatic Diseases Neoplasms Neoplasms by Histologic Type Neoplasms, Vascular Tissue Thrombocytopenia Vascular Anomaly With Thrombocytopenia Vascular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Medical College of Wisconsin

Milwaukee, Wisconsin, 53226, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Subjects with a vascular anomaly with coagulopathy

Exclusion criteria

Subjects without a vascular anomaly with coagulopathy

Treatment and study plan

No intervention

Other

no intervention - observational only

Primary outcomes

Number of patients with genetic mutations, copy number variations and/or expression analysis

Time frame: After DNA collected and batches are sent for analysis

Expand knowledge on consensus diagnostic criteria, atypical presentations and long term outcomes of patients with vascular anomalies

Sponsors and collaborators

Lead sponsor

Medical College of Wisconsin

Other

Registry information

Official study title

International Registry for Vascular Anomalies Associated With Coagulopathy

Acronym: VAC

Important dates

Study start: 2007
Primary completion: 2018
Study completion: 2019
First posted: Dec 19, 2007
Registry last updated: Sep 16, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed