GET INVOLVED
GET INVOLVED WITH RESEARCH
To learn about ongoing research studies and/or to participate, please click any of the following links:
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Join the official PHACE Syndrome registry
Join the PHACE Registry
Timeline - Ongoing
This registry is for people diagnosed with PHACE, LUMBAR and other, hemangioma-related syndromes, and performs a genetic analysis. Please note: you do NOT have to provide DNA samples to join the registry. The researchers may ask, but you may decline. Every piece of information helps the research team learn more about PHACE.
What are the goals of the registry?
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Learn about hemangiomas, PHACE, and LUMBAR and how they affect individuals over time
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Understand the genetic cause of hemangiomas, PHACE and LUMBAR to determine why they occur, and how to improve treatment.
Doctors tell us this one of the most important thing families can do to help support research and find the answers we are all seeking.
Learn more about the PHACE Registry
Closed Studies
Seeking all patients ages 10 years and older for a new study on PHACE Syndrome!
CLOSED
Researchers at many academic medical centers in the United States, Canada, and Spain are doing a study on individuals age 10 years and older with PHACE Syndrome.
Why? We know very little about the evolution of PHACE over time. By looking through medical records, interviewing participants, and using quality of life questionnaires, we hope to better understand the impact that PHACE Syndrome has as individuals with PHACE become teenagers and adults. This study will help to better define their health status including whether certain medical issues develop or resolve over time. Through it we may be able to better educate families and inform future patient care guidelines.
Seeking Photos to Help Improve Diagnostics
CLOSED
Seeking all parents with pictures! For this study, researchers at Indiana University, University of California, San Francisco, the Medical College of Wisconsin, and the Mayo Clinic are requesting that parents of children with hemangiomas and a diagnosis of PHACE syndrome fill out a questionnaire and send us a series of photographs of their child which demonstrates the early stages of the hemangioma. Ideally the photographs would show your child, including the area of the hemangioma, at or around birth, 1 week, 2 weeks, 3 weeks, 4 weeks, 8 weeks, and 12 weeks of age.
We believe that these photographs contain a great deal of useful information which can tell us much more than we currently know about the early signs of hemangiomas associated with PHACE Syndrome. We will be using these photographs to analyze early clues for hemangiomas at risk for PHACE Syndrome, and to hopefully help educate clinicians that will see infants very early in life so they can more accurately diagnosis and triage these infants.
Are you an adult (18+) who has been diagnosed with PHACE Syndrome?
CLOSED
Investigation of the natural history of PHACE syndrome with respect to adult patients.
Sequencing of 30 PHACE tissue samples
CLOSED
Through the Kids First Data Resource Center, sequencing 30 PHACE tissue samples. This will be very important in trying to understand what causes PHACE.
Gabriella Miller Kids First X01 Grant
CLOSED
Testing of whole genome sequencing (WGS). This is a very sophisticated test to look for small changes in the DNA that might cause PHACE and LUMBAR.
PHACES Foundation of Canada Grant
CLOSED