Overview of PHACE Syndrome Registry
Genetic analysis of PHACE Syndrome research study
Since 2006, Dr. Dawn Siegel has led a research study and genetic registry focused on studying PHACE Syndrome, a relatively rare condition found in approximately 1,000 people. The disease was not given its own name or diagnosis until 1996.
PHACE Syndrome often has a major impact on patients and families, so studying the causes of this condition will be very valuable.
In 2012, Dr. Siegel and Dr. Denise Metry, a dermatologist at Texas Children's Hospital, joined their individual PHACE research programs into a single centralized database to help find answers for this disease. Children's Hospital of Wisconsin is now the central location for the PHACE registry project.
Purpose of this the PHACE Syndrome study
The study is focused on two things:
- Learn about what problems PHACE Syndrome causes to track how it affects patients over time
- Study the genetic makeup of patients with PHACE Syndrome to determine why it occurs and how to improve treatment
Those eligible for participation are people who have been diagnosed with definite or possible PHACE Syndrome, the biological parents of these people, and in special cases, their biological siblings and/or grandparents.
What is involved in study participation?
There are a few things that need to be completed to be a part of this study registry. Since many of our subjects are infants at time of enrollment, the parents or legal guardians perform these steps as necessary.
- Sign a consent form. The consent form gives detailed information about the study and all procedures involved. Potential subjects should ask any questions they have regarding the study to be sure that they are fully informed. A subject may consent to enrollment by signing the form to indicate that they understand and approve all information contained in it.
- Sign a HIPPA form. A patient must also grant permission for the study team to access their health information for research purposes only.
- Complete a questionnaire. Once a patient has fully consented, they will fill out a survey which asks specific questions about their PHACE Syndrome, family background and other areas of medical concern.
- Provide DNA samples. The enrolled patient will be asked to give DNA samples at the time of enrollment or at a later date, based on study needs. The study team will talk to each family about this step. Study participants will be asked for some or all of the following types of DNA:
a. Cheek cells (also called buccal swabs). Small soft brushes (resembling flat Q-tips) will be rubbed inside the cheeks to collect loose cells.
b. Blood cells. A small blood draw (about 1 teaspoon) will be collected from the arm. This may either be done while awake or, if sedation is required for things like an MRI or a scheduled surgery, it can be done while asleep.
c. Tissue cells. If a patient is having scheduled surgery, we may ask that any tissue which would normally be thrown away be sent to us as a sample. If specific tissue would be particularly helpful to the research, and it isn't possible to get a sample in this manner, the study team may request a skin biopsy be performed. The study team will approach each family to discuss this possibility.
- Be available for future contact. Participants may be contacted by phone or email if further information is needed. This study is evolving as we learn more, and occasionally we will add new questions or procedures to the protocol. Researchers will always ask you to sign a new consent form after explaining the changes before doing anything that was added since enrollment. As genetic tests give more information, the team may also request additional DNA samples as older samples get used up.
After the initial enrollment procedures described above, very little is required of subjects, though they remain in the study for many years.
Risks and benefits of participation
Participants undergo the collection of DNA samples in the form of cheek swabs, blood draws and/or skin biopsies. Though these procedures may cause some pain, major risks are very rare, and will not cause long-term harm. Biopsies have increased risks which would be addressed only if this sample is requested by the study staff.
Every effort will be made to maintain participant confidentiality. DNA tests are only done on samples which have been identified only by a study number, and nobody outside the research team can connect them back to specific participants. All patient records and information collected for this study are kept in a locked office area, and all electronic data is stored on encrypted servers.
The benefit to current study subjects includes the possibility of learning more about the cause of PHACE Syndrome, potentially improved treatment, and first-line communication from the study team when events, publications or results are present in regards to PHACE Syndrome.
How to participate
To learn more about this research effort, ask questions of the study learn, or to request enrollment, please contact us.
Other PHACE studies:
Study of Neurologic, Cognitive, and Radiologic Outcomes in PHACE Syndrome Research Study
A small group of patients with a hemangioma may also have additional disorders associated with PHACE Syndrome. This is the first study to look at specific areas of development in children with PHACE Syndrome, including neurologic, psychological and cognitive evaluations.
We hope to determine which children with PHACE Syndrome are at risk for problems with the growth and development of the brain or central nervous system so that they can be treated earlier. The data used from this study will be groundbreaking in the development of standardized testing to establish clinical guidelines for the management of children with PHACE Syndrome.
Phenotypic Features of PHACE Syndrome Research Study
New features of PHACE Syndrome are continually becoming recognized, and this study focuses on newly-identified dental abnormalities in children with PHACE Syndrome. We hope this will help us learn more about the Syndrome, provide people with more detailed and accurate medical information, and lead to better treatments.