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.|
|ClinicalTrials.gov Identifier: NCT01016756|
Recruitment Status : Recruiting
First Posted : November 19, 2009
Last Update Posted : March 8, 2019
- 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.
|Condition or disease|
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.
|Study Type :||Observational|
|Estimated Enrollment :||600 participants|
|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|
- Establish a DNA and tissue bank. [ Time Frame: 5 years ]
- Determine candidate genes for PHACE syndrome using a genome-wide approach. [ Time Frame: 10 years ]
Biospecimen Retention: Samples With DNA
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 ClinicalTrials.gov identifier (NCT number): NCT01016756
|United States, Wisconsin|
|Medical College of Wisconsin||Recruiting|
|Milwaukee, Wisconsin, United States, 53226|
|Contact: Dawn Siegel, MD 414-955-2819 firstname.lastname@example.org|
|Contact: Katherine Mueller 414-955-2846 email@example.com|
|Principal Investigator: Dawn Siegel, MD|
|Principal Investigator:||Dawn Siegel, MD||Medical College of Wisconsin|