Identification of Biomarkers for Patients with Vascular Anomalies

Cincinnati Children's Hospital Medical Center

Status: Enrolling

Conditions: Klippel Trenaunay Syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Generalized Lymphatic Anomaly; Kaposiform Lymphangiomatosis; Kaposiform Hemangioendothelioma; Gorham-Stout Disease; Vascular Anomaly

Study type: Observational

Funder types: Other

Identifiers

NCT03001180

CCHMC-LMI

Details and patient eligibility

About

The study will use blood (serum and plasma) and tissue obtained from participants undergoing prescribed surgical resection of vascular anomalies of interest proposed in this study. The study will also use blood (serum and plasma) and tissue collected and stored in a tissue bank maintained by the Department of Hematology/Oncology.

Full description

While vascular anomalies are rare diseases, they can be life-threatening and devastating to affected children and their families. Advances in diagnosis, monitoring and therapies will be significantly improved if non-invasive biomarkers that are sensitive and specific can be identified. Obtaining a tissue biopsy to help in diagnosis can actually worsen the disease and so identification of specific blood biomarkers is highly desirable. Studies will measure angiogenic factors in serum and plasma samples at baseline and on therapy. Tissue removed during surgical resection or blood removed prior to sclerotherapy will be used to obtain cells and tissue for the assessment of where biomarkers are coming from and to identify disease-causing pathways for new therapeutic targeting.

Enrollment: 1,000 estimated patients

Sex: All

Ages: 1+ day old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Any patient having labs drawn as standard of care will have blood drawn for the study if consented/ assented.
• All patients who are undergoing a surgical procedure or sclerotherapy are currently consented for participation in the tissue bank.

Exclusion criteria

• N/A