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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).


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PHACE Syndrome

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Trial Information

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).


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.


Inclusion Criteria:



- meets the clinical diagnostic criteria for PHACE syndrome.

Exclusion Criteria:

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

Type of Study:

Observational

Study Design:

Observational Model: Family-Based, Time Perspective: Prospective

Outcome Measure:

Establish a DNA and tissue bank.

Outcome Time Frame:

5 years

Safety Issue:

No

Principal Investigator

Dawn Siegel, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Medical College of Wisconsin

Authority:

United States: Institutional Review Board

Study ID:

PHACE_GENETICS

NCT ID:

NCT01016756

Start Date:

February 2007

Completion Date:

January 2017

Related Keywords:

  • PHACE Syndrome
  • PHACE syndrome
  • Hemangioma
  • Coarctation of aorta
  • Dandy Walker
  • Brain malformation
  • Eye anomaly
  • Sternal malformation
  • Genetic analysis
  • Cerebral artery anomaly
  • Hemangioma

Name

Location

Medical College of WisconsinMilwaukee, Wisconsin  53226