Registry for Vascular Anomalies Associated With Coagulopathy

NCT ID: NCT00576888

Last Updated: 2019-09-16

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 30 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2007-11-30
• Study Completion Date: 2019-04-05

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

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.

Conditions

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

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: OTHER

Study Groups

Vascular Anomaly with Coagulopathy

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

no intervention

Intervention Type: OTHER

no intervention - observational only

Interventions

no intervention

no intervention - observational only

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Subjects with a vascular anomaly with coagulopathy

Exclusion Criteria

• Subjects without a vascular anomaly with coagulopathy

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Medical College of Wisconsin

OTHER

Sponsor Role: lead

Responsible Party

Beth A Drolet, MD

Professor of Dermatology and Pediatrics

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Beth Drolet, MD

Role: PRINCIPAL_INVESTIGATOR

Medical College of Wisconsin

Ulrich Broeckel, MD

Role: PRINCIPAL_INVESTIGATOR

Medical College of Wisconsin

Howard Jacob, PhD

Role: PRINCIPAL_INVESTIGATOR

Medical College of Wisconsin

Michael Kelly, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Medical College of Wisconsin

Richard Noel, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Medical College of Wisconsin

Paula North, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Medical College of Wisconsin

Locations

Medical College of Wisconsin

Milwaukee, Wisconsin, United States

Countries

United States

Other Identifiers

CHW07/226

Identifier Type: -

Identifier Source: org_study_id