Registry for Vascular Anomalies Associated With Coagulopathy

NCT00576888 | Completed

• 1 other identifier: CHW07/226
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Multifocal Lymphangioendotheliomatosis With Thrombocytopenia; Cutaneovisceral Angiomatosis With Thrombocytopenia; Vascular Anomaly With Thrombocytopenia; Hemangiomas

Keywords

Multifocal lymphangioendoltheliomatosis with thrombocytopenia; Cutaneovisceral angiomatosis with thrombocytopenia; Thrombocytopenia; Hemangiomas; Hemangiomatosis; Lymphatic malformation; Kasabach-Merritt; Blue-rubber bleb nevus; Angiomatosis

Outcome Measures

Primary Outcomes (1)

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

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

  After DNA collected and batches are sent for analysis

Study Arms (1)

Vascular Anomaly with Coagulopathy

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

Other: no intervention

Interventions

no intervention OTHER

no intervention - observational only

Vascular Anomaly with Coagulopathy

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• Subjects with a vascular anomaly with coagulopathy

You may not qualify if:

• Subjects without a vascular anomaly with coagulopathy

Sponsors & Collaborators

• Medical College of Wisconsin: lead

Study Sites (1)

Medical College of Wisconsin

Milwaukee, Wisconsin, 53226, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Buccal swab, tissue biopsy if available

MeSH Terms

Conditions

Hemangioma; Thrombocytopenia; Lymphatic Abnormalities; Blue rubber bleb nevus syndrome; Angiomatosis

Condition Hierarchy (Ancestors)

Neoplasms, Vascular Tissue; Neoplasms by Histologic Type; Neoplasms; Blood Platelet Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Cytopenia; Lymphatic Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Vascular Diseases; Cardiovascular Diseases

Study Officials

• 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

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Dermatology and Pediatrics

Study Record Dates

• First Submitted: December 18, 2007
• First Posted: December 19, 2007
• Study Start: November 1, 2007
• Primary Completion: December 1, 2018
• Study Completion: April 5, 2019
• Last Updated: September 16, 2019

Record last verified: 2019-09

Locations

US (1)