Genetic Analysis of PHACE Syndrome (Hemangioma With Other... | NCT01016756

Studies
Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)

NCT01016756

Sponsor

Medical College of Wisconsin

Status

Completed

Last Update Posted

Mar 28, 2023Actual

Enrollment

341Actual

Phase

Not provided

Conditions

PHACE Syndrome

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2023

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 2007Actual

Primary Completion Date

Aug 15, 2022Actual

Completion Date

Aug 15, 2022Actual

First Submitted Date

Nov 18, 2009

First Submission Date that Met QC Criteria

Nov 18, 2009

First Posted Date

Nov 19, 2009Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 26, 2023

Last Update Posted Date

Mar 28, 2023Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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.

Detailed Description

If you and your child agree to participate in this study, the following will happen:

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.
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 may have a blood draw, saliva sample or buccal swab done.
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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

341Actual

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Establish a DNA and tissue bank.		5 years
Determine candidate genes for PHACE syndrome using a genome-wide approach.		10 years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

meets the clinical diagnostic criteria for PHACE syndrome.

Exclusion Criteria:

fails to meet the clinical diagnostic criteria for PHACE syndrome.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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.

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Dawn Siegel, MD	Stanford University	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Medical College of Wisconsin		Milwaukee	Wisconsin	53226	United States

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
19858157	Background	Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, Adams D, Siegel D, Hall K, Powell J, Frieden I, Drolet B; PHACE Syndrome Research Conference. Consensus Statement on Diagnostic Criteria for PHACE Syndrome. Pediatrics. 2009 Nov;124(5):1447-56. doi: 10.1542/peds.2009-0082. Epub 2009 Oct 26.
16575892	Background

ID	Term
C565758	Aortic Aneurysm, Giant Congenital
D006391	Hemangioma
D001017	Aortic Coarctation
D005124	Eye Abnormalities

ID	Term
D009383	Neoplasms, Vascular Tissue
D009370	Neoplasms by Histologic Type
D009369	Neoplasms
D006330	Heart Defects, Congenital