by Dr. Dawn Siegel and Olivia Davies
As we were reflecting upon this past year, we realized that 2018 marks the 12-year anniversary of the PHACE registry! Wow! We have so enjoyed getting to know many of you and attending your annual meetings. We are happy to report participation is as strong as ever with 322 individuals enrolled worldwide! We are excited to share with you some of the progress we have made over this past year in our search to learn more about PHACE Syndrome and what causes it.
Some big news we have to share with you is that the PHACE Syndrome International Clinical Registry and Genetic repository was awarded a second Gabriella Miller Kids First X01 grant in conjunction with Dr. Drolet. Because our research mission is to find the cause of PHACE syndrome and to prevent and treat complications caused by PHACE syndrome, this grant is truly exciting news for the registry! The grant will allow us to look for small changes in DNA that might cause PHACE syndrome using whole genome sequencing, whole exome sequencing, and RNA sequencing. The window for including tissue samples in this part of the study closes in March 2019.
In addition to the genetic studies, we are working on several other projects to advance the understanding of PHACE syndrome. We are hoping to learn more about the long-term outcomes of hemangiomas and about the quality of life of our adolescent PHACE patients through a study that we will be launching in the near future; this study will involve two brief surveys for our adolescents and their parents. We are also looking at the long-term outcomes of individuals with PHACE syndrome who were born with cardiac anomalies to learn how often they need to follow up with their cardiologists for repeat imaging studies (echocardiograms). In addition to these exciting developments, we are working with our neuroradiology partners to search for PHACE-related blood vessel changes on brain imaging in adults living with undiagnosed PHACE syndrome.
2018 has truly been an exciting year for the PHACE registry, and we look forward to continuing our pursuit in 2019.