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JOIN THE PHACE 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.

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. 
 

The PHACE Registry has moved to Stanford University, Department of Dermatology!

The new contact information is:

Dr. Dawn Siegel

Email: phaceregistry@stanford.edu

Phone: (650) 497-6397

 
CURRENT RESEARCH STUDIES
 
Seeking all patients ages 10 years and older for a new study on PHACE Syndrome!
November 2021

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.

 

If you are interested in this study, please reach out to Mitchell Braun (research study coordinator) (mitchell.braun@ucsf.edu) at the University of California San Francisco.

Are you an adult (18+) who has been diagnosed with PHACE Syndrome?

Timeline - Ongoing

If so, we need your help! Members of the pediatric dermatology group here at Children's Hospital of Wisconsin are interested in investigating the natural history of PHACE syndrome with respect to adult patients. We are designing a brief questionnaire for members of the PHACE syndrome Registry to fill out that will allow us to better understand late onset health problems in PHACE syndrome. Your help will be absolutely critical in furthering what we know about the disease! If you are interested in participating, please contact Katherine Mueller at (kamueller@mcw.edu) or 414-955-2846. 

Sequencing of 30 PHACE tissue samples

December 2018

Through the Kids First Data Resource Center, with your support, Dr. Siegel will be able to sequence 30 PHACE tissue samples. This will be very important in trying to understand what causes PHACE.

If you or your child has PHACE syndrome there are a few ways you can participate:

1) With your approval, Dr. Siegel can use tissue samples from prior surgeries for the genetic studies. We can still use the sample, even if it is several years old.

2) Another way to provide a tissue sample is through biopsy at Children’s Hospital of Wisconsin (CHW) directly with Dr. Siegel’s team. If you have care and treatment scheduled at CHW in the next two months, please consider the biopsy option. Dr. Metry at Texas Children’s Hospital and Dr. Frieden at UCSF can also do the skin biopsies.

3) We also still need blood or saliva samples from the child/person with PHACE, mother and father.

Our goal is to collect these samples by March 1st, 2019.

Dr. Siegel serves as Director of PHACE Syndrome International Clinical Registry & Genetic Repository and is a current member of the PHACE  Syndrome Community Executive and Medical Advisory Boards. She is working to find the cause of PHACE!

Click here to learn more about Dr. Siegel and her exciting work.

Frequently asked questions:   

- What is the PHACE registry?  Click here to read about the registry.​

- Do I have to be a registry member to give tissue?  Yes.

- How do I join the registry? Please contact Olivia Davies (odavies@mcw.edu), PHACE Fellow at CHW.

- Is there an online-sign up form? Yes, once you qualify and are part of the registry, you will receive the online form from Olivia.

- How does someone provide tissue samples? Families can contact our PHACE fellow, Olivia Davies (odavies@mcw.edu). She will work with them to arrange everything.

- Is there a timeline/last date of surgery for tissue? Any prior surgery is fine.

Gabriella Miller Kids First X01 Grant

July 2017

 

The PHACE Syndrome International Clinical Registry and Genetic repository has been awarded a Gabriella Miller Kids First X01 grant.

This will allow a type of research testing called whole genome sequencing (WGS). This is a very sophisticated test to look for small changes in the DNA that might cause PHACE and LUMBAR. The grant will fund testing for 100 family trios (child, mother and father). This award is very exciting because with rare conditions like PHACE we need to study large numbers of individuals to figure out the cause. All that is needed to participate is to join the registry by signing the online consents and giving a small blood sample. All families trios that donate blood samples will receive a $50 Target gift card.

Find out more on the Gabriella Miller Kids First Pediatric Research Program!

For any questions, please contact Katherine Mueller kamueller@mcw.edu or Nikki Stefanko nstefanko@mcw.edu at the PHACE registry.

 
PHACES Foundation of Canada Grant

July 2017

 

Thanks to the PHACES Foundation of Canada - There is an additional set of hands at CHW to help with the PHACE Registry. Nikki Stefanko is the PHACE Foundation of Canada Pediatric Dermatology Research Fellow at the Medical College of Wisconsin. She graduated from Miami University with degrees in marketing and music. Nikki has completed three years of medical school at the University of Cincinnati College of Medicine and will finish her fourth and final year upon completion of her research year.  After medical school, Nikki aspires to pursue a residency in dermatology followed by a fellowship in pediatric dermatology.

Nikki will be working with patients and families for the PHACE Syndrome International Clinical Registry and Genetic Repository. She will be able to assist families with questions about the enrollment process. The focus of her this year will be to investigate the long-term outcomes and natural history of PHACE syndrome, including understanding the health of adults with PHACE. She would like to gratefully acknowledge Shannon Audette and PHACE Foundation of Canada for giving her the opportunity to help advance PHACE Syndrome research. 

Learn more about Nikki Stefanko.

Seeking Photos to Help Improve Diagnostics

January 2017

 

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.

For more information, please email Dr. Sarah Skillman. You can also download more information by clicking here