To develop a multicenter collaborative network of physicians and research scientists to answer important clinical questions related to birthmarks in children.
Short term goals include:
- Explore the use of and safety issues surrounding use of propranolol and timolol treatment in high risk patients such as preterm and infants with PHACE syndrome.
- Explore the phenotype/genotype correlation of overgrowth syndromes.
- Facilitate collaboration between investigators who have used select experimental therapies for the management of vascular lesions.
- Facilitate collaboration between clinicians and scientists with the goal of gene discovery for birthmarks of medical significance.
At the inaugural PeDRA Annual Conference in 2013, a group of physicians interested in vascular and other birthmarks came together in a breakout session to exchange ideas and network with potential collaborators on a number of exciting research projects. The group was fortunate to have the insight of not only experienced and enthusiastic research investigators including the Hemangioma Investigator Group (HIG) and the PHACE Syndrome Registry, but also patient advocacy organization representatives including advocates from the new PHACE Syndrome Community, as well as the Foundation for Ichthyosis and Related Disorders (FIRST), and the Basal Cell Carcinoma Nevus Syndrome (BCCNS ) Life Support Network. The National Organization of Vascular Anomalies (NOVA) was unable to attend, but sent a list of research priorities prior to the meeting. Highlights included: planning for trials exploring the use of and safety issues surrounding use of propranolol and timolol treatment in high risk patients, call for investigators to collaborate who have used select experimental therapies for vascular lesions, gene discovery programs, and exploring the phenotype/genotype correlation of overgrowth syndromes.
We welcome additional investigators and other studies of interest! Please contact the respective leads below.