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临床试验/NCT01016756
NCT01016756已完成不适用

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).

Medical College of Wisconsin1 个研究点 分布在 1 个国家目标入组 341 人开始时间: 2007年2月最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
入组人数
341
试验地点
1
主要终点
Establish a DNA and tissue bank.

研究概览

简要总结

  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.

详细描述

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 or collaborators at other sites, 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 may have a blood draw, saliva sample or buccal swab done.
  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.

研究设计

研究类型
Observational
观察模型
Family Based
时间视角
Prospective

入排标准

性别
All
接受健康志愿者

入选标准

  • meets the clinical diagnostic criteria for PHACE syndrome.

排除标准

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

结局指标

主要结局

Establish a DNA and tissue bank.

时间窗: 5 years

Determine candidate genes for PHACE syndrome using a genome-wide approach.

时间窗: 10 years

次要结局

未报告次要终点

研究者

申办方类型
Other
责任方
Principal Investigator
主要研究者

Dawn Siegel

Professor

Stanford University

研究点 (1)

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