Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)
| Status: | Recruiting |
|---|---|
| Conditions: | Women's Studies, Hematology |
| Therapuetic Areas: | Hematology, Reproductive |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 3/10/2019 |
| Start Date: | February 2007 |
| End Date: | December 2025 |
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).
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.
(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.
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.
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.
We found this trial at
1
site
8701 W Watertown Plank Rd
Milwaukee, Wisconsin
Milwaukee, Wisconsin
(414) 955-8296
Principal Investigator: Dawn Siegel, MD
Phone: 414-955-2819
Medical College of Wisconsin The Medical College (MCW) of Wisconsin is a major national research...
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