Registry for Vascular Anomalies Associated With Coagulopathy

Overview

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

Full Title of Study: “International Registry for Vascular Anomalies Associated With Coagulopathy”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Other
  • Study Primary Completion Date: December 2018

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.

Interventions

  • Other: no intervention
    • no intervention – observational only

Arms, Groups and Cohorts

  • Vascular Anomaly with Coagulopathy
    • All patients diagnosed with Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) or with a vascular anomaly with coagulopathy

Clinical Trial Outcome Measures

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

Participating in This Clinical Trial

Inclusion Criteria

  • Subjects with a vascular anomaly with coagulopathy Exclusion Criteria:

  • Subjects without a vascular anomaly with coagulopathy

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Medical College of Wisconsin
  • Provider of Information About this Clinical Study
    • Principal Investigator: Beth A Drolet, MD, Professor of Dermatology and Pediatrics – Medical College of Wisconsin
  • Overall Official(s)
    • Beth Drolet, MD, Principal Investigator, Medical College of Wisconsin
    • Ulrich Broeckel, MD, Principal Investigator, Medical College of Wisconsin
    • Howard Jacob, PhD, Principal Investigator, Medical College of Wisconsin
    • Michael Kelly, MD, PhD, Principal Investigator, Medical College of Wisconsin
    • Richard Noel, MD, PhD, Principal Investigator, Medical College of Wisconsin
    • Paula North, MD, PhD, Principal Investigator, Medical College of Wisconsin

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