Clinical trials and research

Recent cellular and genetic research has uncovered several important clues about what causes infantile hemangiomas, vascular anomalies and congenital hemangiomas as well as new tools for diagnosing them. The Birthmarks and Vascular Anomalies Program is conducting research on the causes and potential cures for dangerous and disfiguring hemangiomas. These efforts are led by a team of internationally respected researchers:

• Paula North, MD, PhD
  Medical director, Pathology, Children's Wisconsin; professor and chief of Pediatric Pathology, the Medical College.

Current clinical research initiatives

Subjects for the following studies are recruited by faculty and staff in the Dermatology Program at Children's. For information about enrolling your child in any of the following studies, please contact Shawna Joachim, clinical research coordinator at (414) 955-2817 or by email.

Genetic Analysis of PHACE Syndrome

PHACE syndrome is a rare multisystem disorder that can affect the brain, blood vessels, heart and eyes. Little is known regarding the cause of PHACE syndrome, including whether there is a potential genetic component to the disorder. The purpose of this study is to determine if there are genes in common in children with PHACE syndrome. About 350 children and their parents will take part in this study. The data from this research will help to provide people with PHACE syndrome and their relatives with more detailed and accurate medical information, which will hopefully lead to better treatments.

• PHACE Syndrome Registry site
• PHACE Handbook

Multifocal Lymphangioendotheliomatosis with Thrombocytopenia Registry

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Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is a rare vascular disorder characterized by multiple congenital skin and visceral lesions, profound thrombocytopenia, and gastrointestinal bleeding. 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 also is a term used for this same disease. We have designed a web-based registry to collect information and biopsy specimens on all patients diagnosed with MLT.

Paula North, MD, PhD, who originally described this disease, will review all biopsy specimens. The immediate goal of the registry is to collect long-term morbidity and mortality data. In addition, the registry will address many unanswered questions regarding risk factors and treatment options for this rare disease. This data will be used to better understand the disease, design diagnostic criteria, and create treatment guidelines. Families may contact our department directly, and we will send information to you. This study is funded by Children's Research Institute.

Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes in PHACE Syndrome

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What is PHACE syndrome? A small group of patients with skin hemangiomas (noncancerous growth of blood vessels appearing as a type of birthmark) on the head and neck also may have additional disorders associated with PHACE syndrome. PHACE refers to Posterior fossa anomalies (a structural brain abnormality); Hemangioma (growth of blood vessels) appearing on the skin; Arterial abnormalities; Cardiac (heart) abnormalities; and abnormalities of the Eye. Your child may have one or several of the abnormalities listed above as part of the PHACE syndrome.

To participate in this trial: (1) Your child must be diagnosed with definite or probable PHACE syndrome (according to the 2009 criteria); (2) Your child must be 4, 5 or 6 years old; (3) You and your child must be available to travel to Children's Wisconsin for scheduled outpatient evaluations over a one- or two-day period (limited travel funds are provided by the study). Please note that no drugs are used for this study.

Why is this study important? While it is known that children with PHACE syndrome may have abnormalities of the blood vessels in the brain or structural brain abnormalities, it is not known what the significance of these abnormalities is or how this affects children as they get older. As a result, it is difficult for physicians to counsel parents of infants with PHACE syndrome regarding future expectations or problems that may be encountered in regard to development.

This project is the first study to look at specific areas of development in children with PHACE syndrome through neurologic, psychological and cognitive evaluations. The data from this study will be used in the development of standardized testing to establish clinical guidelines for the management of children with PHACE syndrome. About 30 children will be enrolled in this study. We believe that the information gained in this study will better characterize PHACE syndrome and establish guidelines for diagnostic neuroimaging of at-risk infants.

Genetic Basis of Hemangiomas.

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Infantile hemangiomas are a common, yet poorly understood vascular tumor. Most hemangiomas are found in the skin, but they may also occur in the liver, spleen, gastrointestinal tract, airway, thorax and central nervous system. Unlike most birthmarks, cutaneous hemangiomas are tumors. They undergo cellular proliferation. At birth they are either absent or barely evident; they proliferate in the first few weeks to months of life, followed by a phase where they tend to decrease in size over several months to years.

At Children's, we care for more than 300 infants each year with infantile hemangiomas. Although not all hemangiomas require treatment, 30 percent of patients will have complications and 25 percent of infants will require treatment. The purpose of this study is to determine if there are genes that are common in children with infantile hemangioma. About 1,000 children and their parents may take part in this study. The data from this research will allow physicians to improve care for patients who have been diagnosed with infantile hemangioma and to provide their parents with more complete information regarding the cause.

Influence of Demographic Factors in those Affected by Birthmarks.

Birthmarks or congenital anomalies of the skin are common. However, the exact incidence and cause of most birthmarks is incompletely understood. Caring for infants with birthmarks can be very challenging as few studies are designed to address questions relating to the pathogenesis, predicted clinical behavior and complication rate. Due to our incomplete understanding of these conditions, current treatment options are limited and based solely on perceived disease mechanisms. Furthermore, safety and efficacy of available therapeutic interventions has not been established. For all of these reasons, it is vital for us to fully understand all possible predisposing factors including those within affected children's perinatal and prenatal environments.

This study aims to collect pertinent demographic factors and clinical outcomes in a total of 3,000 children. The goal of the study is to completely understand all possible predisposing factors within the affected children's perinatal and prenatal environment in order to improve physicians' ability to safely and effectively manage these patients and limit the overall burden of disease.

Search for research articles published by doctors in the Dermatology and Birthmarks and Vascular Anomalies programs.