Home
Search
Study Topics
Glossary
|
|
|
|
|
Sponsored by: |
Medical College of Wisconsin |
---|---|
Information provided by: | Medical College of Wisconsin |
ClinicalTrials.gov Identifier: | NCT00576888 |
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 |
Official Title: | International Registry for Vascular Anomalies Associated With Coagulopathy |
Buccal swab, tissue biopsy if available
Estimated Enrollment: | 30 |
Study Start Date: | November 2007 |
Estimated Study Completion Date: | December 2009 |
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
|
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.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
All patients diagnosed with Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) or with a vascular anomaly with coagulopathy
Inclusion Criteria:
Exclusion Criteria:
Contact: Kelly J Duffy, PhD | (414) 456-4078 | kduffy@mcw.edu |
United States, Wisconsin | |
Medical College of Wisconsin | Recruiting |
Milwaukee, Wisconsin, United States, 53226 | |
Contact: Kelly J Duffy, PhD 414-456-4078 kduffy@mcw.edu |
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 |
Principal Investigator: | Kelly Duffy, PhD | Medical College of Wisconsin |
Responsible Party: | Medical College of Wisconsin ( Beth Drolet ) |
Study ID Numbers: | CHW07/226, GC567 |
Study First Received: | December 18, 2007 |
Last Updated: | December 31, 2008 |
ClinicalTrials.gov Identifier: | NCT00576888 History of Changes |
Health Authority: | United States: Institutional Review Board |
Multifocal lymphangioendoltheliomatosis with thrombocytopenia Cutaneovisceral angiomatosis with thrombocytopenia Vascular anomaly with thrombocytopenia Hemangiomas Hemangiomatosis |
Lymphatic malformation Kasabach-Merritt Blue-rubber bleb nevus Angiomatosis |
Lymphatic Abnormalities Angiomatosis Cardiovascular Abnormalities Hematologic Diseases Blood Coagulation Disorders Blood Platelet Disorders Vascular Diseases Hemostatic Disorders |
Blister Thrombocytopathy Thrombocytopenia Nevus, Pigmented Vascular Malformations Hemangioma Nevus Congenital Abnormalities |
Angiomatosis Neoplasms by Histologic Type Cardiovascular Abnormalities Hematologic Diseases Blood Platelet Disorders Vascular Diseases Neoplasms |
Thrombocytopenia Vascular Malformations Hemangioma Neoplasms, Vascular Tissue Cardiovascular Diseases Congenital Abnormalities |