Clinical trial NCT00576888: Registry for Vascular Anomalies Associated With Coagulopathy
Official title: International Registry for Vascular Anomalies Associated With Coagulopathy
Study type: OBSERVATIONAL
Overall status: COMPLETED
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
Lead sponsor: Medical College of Wisconsin
Sponsor class: OTHER
First posted: 2007-12-19
Enrollment: 30
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All patients diagnosed with Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) or with a vascular anomaly with coagulopathy

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.

Eligibility criteria: Inclusion Criteria:

* Subjects with a vascular anomaly with coagulopathy

Exclusion Criteria:

* Subjects without a vascular anomaly with coagulopathy

Primary outcomes:
measure: Number of patients with genetic mutations, copy number variations and/or expression analysis
timeFrame: After DNA collected and batches are sent for analysis
Secondary outcomes:
Other outcomes:
Locations:
city: Milwaukee
country: United States
facility: Medical College of Wisconsin
state: Wisconsin
Study officials:
affiliation: Medical College of Wisconsin
name: Beth Drolet, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Medical College of Wisconsin
name: Ulrich Broeckel, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Medical College of Wisconsin
name: Howard Jacob, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Medical College of Wisconsin
name: Michael Kelly, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Medical College of Wisconsin
name: Richard Noel, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Medical College of Wisconsin
name: Paula North, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: