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Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies) (PHACE)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01016756
Recruitment Status : Recruiting
First Posted : November 19, 2009
Last Update Posted : March 8, 2019
Information provided by (Responsible Party):
Dawn Siegel, Medical College of Wisconsin

Brief Summary:
  1. PHACE syndrome(OMIM database number 606519) is the association of a vascular birthmark (hemangioma) on the face along with one or more of the following conditions: congenital heart defects, congenital anomalies of the cerebral arteries,brain, eyes, or sternum.
  2. A research study is currently being conducted at the Medical College of Wisconsin (MCW) to investigate if there is an inherited cause of PHACE syndrome.
  3. We are hoping that this study will lead to a better understanding of how and why children develop PHACE syndrome.

Condition or disease
PHACE Syndrome

Detailed Description:

If you and your child agree to participate in this study, the following will happen:

  1. The principal investigator at MCW, or her appointed representative, will review the study protocol and consent form with you and answer any questions- this can be done over the phone.
  2. If you choose to participate, the investigator will obtain informed consent for study participation, consent to obtain medical records, and a small amount of logistical information such as address and phone number.
  3. Subjects and parents will have a blood draw which can be done a local laboratory.
  4. If the subject undergoes surgery for another reason and there is tissue which would otherwise be discarded, we may ask to receive this sample for research purposes.
  5. We will request completion of surveys about the individual's medical history as it relates to this condition.
  6. The purpose of this study is to promote the understanding of the inheritance of hemangiomas associated with brain, eye and heart anomalies. The DNA obtained from participants are stored in a DNA repository and genetic data bank for current and future research projects related to their genetic disorders. The DNA specimens will be used to map disease-related genes. The principal investigator uses her discretion to decide which investigators will have access to this resource. The analysis of the specimens will vary depending on the investigator and his/her specific protocol.

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Study Type : Observational
Estimated Enrollment : 600 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Analysis of PHACE Syndrome.(PHACE Syndrome is Defined as a Hemangioma Plus One or More of the Following: Brain, Heart, Eye, Sternal or Cerebral Artery Anomalies).
Study Start Date : February 2007
Estimated Primary Completion Date : December 2023
Estimated Study Completion Date : December 2025

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Establish a DNA and tissue bank. [ Time Frame: 5 years ]
  2. Determine candidate genes for PHACE syndrome using a genome-wide approach. [ Time Frame: 10 years ]

Biospecimen Retention:   Samples With DNA
Blood (4 ml) for lymphocyte cell lines and DNA and tissue collection from tissue that would otherwise be discarded after surgery.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population

Individuals with a facial hemangioma, along with one or more of the following:

posterior fossa malformation, arterial anomalies, cardiac defects, eye anomalies and sternal anomalies.


Inclusion Criteria:

  • meets the clinical diagnostic criteria for PHACE syndrome.

Exclusion Criteria:

  • fails to meet the clinical diagnostic criteria for PHACE syndrome.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01016756

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United States, Wisconsin
Medical College of Wisconsin Recruiting
Milwaukee, Wisconsin, United States, 53226
Contact: Dawn Siegel, MD    414-955-2819   
Contact: Katherine Mueller    414-955-2846   
Principal Investigator: Dawn Siegel, MD         
Sponsors and Collaborators
Medical College of Wisconsin
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Principal Investigator: Dawn Siegel, MD Medical College of Wisconsin

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Responsible Party: Dawn Siegel, Assistant Professor, Medical College of Wisconsin Identifier: NCT01016756     History of Changes
Other Study ID Numbers: PHACE_GENETICS
First Posted: November 19, 2009    Key Record Dates
Last Update Posted: March 8, 2019
Last Verified: March 2019
Keywords provided by Dawn Siegel, Medical College of Wisconsin:
PHACE syndrome
Coarctation of aorta
Dandy Walker
Brain malformation
Eye anomaly
Sternal malformation
Genetic analysis
Cerebral artery anomaly
Additional relevant MeSH terms:
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Congenital Abnormalities
Pathologic Processes
Neoplasms, Vascular Tissue
Neoplasms by Histologic Type