Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)
This study is currently recruiting participants.
Verified February 2013 by Medical College of Wisconsin
Information provided by (Responsible Party):
Dawn Siegel, Medical College of Wisconsin
First received: November 18, 2009
Last updated: February 26, 2013
Last verified: February 2013
- 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.
- 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.
- We are hoping that this study will lead to a better understanding of how and why children develop PHACE syndrome.
||Observational Model: Family-Based
Time Perspective: Prospective
||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).
Biospecimen Retention: Samples With DNA
Primary Outcome Measures:
- Establish a DNA and tissue bank. [ Time Frame: 5 years ] [ Designated as safety issue: No ]
- Determine candidate genes for PHACE syndrome using a genome-wide approach. [ Time Frame: 10 years ] [ Designated as safety issue: No ]
Blood (4 ml) for lymphocyte cell lines and DNA and tissue collection from tissue that would otherwise be discarded after surgery.
| Estimated Enrollment:
| Study Start Date:
| Estimated Study Completion Date:
| Estimated Primary Completion Date:
||January 2015 (Final data collection date for primary outcome measure)
If you and your child agree to participate in this study, the following will happen:
- 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.
- 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.
- Subjects and parents will have a blood draw which can be done a local laboratory.
- 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.
- We will request completion of surveys about the individual's medical history as it relates to this condition.
- 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.
|Genders Eligible for Study:
|Accepts Healthy Volunteers:
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.
- meets the clinical diagnostic criteria for PHACE syndrome.
- fails to meet the clinical diagnostic criteria for PHACE syndrome.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01016756
|Medical College of Wisconsin
|Milwaukee, Wisconsin, United States, 53226 |
|Contact: Dawn Siegel, MD 414-955-2819 email@example.com |
|Contact: Shawna Joachim 414-955-2817 firstname.lastname@example.org |
|Principal Investigator: Dawn Siegel, MD |
Medical College of Wisconsin
||Dawn Siegel, MD
||Medical College of Wisconsin
Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, Adams D, Siegel D, Hall K, Powell J, Frieden I, Drolet B. Consensus Statement on Diagnostic Criteria for PHACE Syndrome. Pediatrics. 2009 Nov;124(5):1447-56. Epub 2009 Oct 26.
Metry DW, Haggstrom AN, Drolet BA, Baselga E, Chamlin S, Garzon M, Horii K, Lucky A, Mancini AJ, Newell B, Nopper A, Heyer G, Frieden IJ. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A. 2006 May 1;140(9):975-86.
||Dawn Siegel, Assistant Professor, Medical College of Wisconsin
History of Changes
|Other Study ID Numbers:
|Study First Received:
||November 18, 2009
||February 26, 2013
||United States: Institutional Review Board
Keywords provided by Medical College of Wisconsin:
Coarctation of aorta
Cerebral artery anomaly
Additional relevant MeSH terms:
ClinicalTrials.gov processed this record on May 23, 2013
Neoplasms, Vascular Tissue
Neoplasms by Histologic Type