PHACE SyndromePHACENCT01016756
Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)
An observational study of PHACE Syndrome, run by Medical College of Wisconsin at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- PHACE Syndrome
- How many people
- 341 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2007to 15 Aug 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older 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.
Who may be able to join
- meets the clinical diagnostic criteria for PHACE syndrome.
Who cannot join
- fails to meet the clinical diagnostic criteria for PHACE syndrome.
Trial locations and contacts
1 site in 1 country.
United States1 site
Medical College of Wisconsin
Milwaukee, Wisconsin, 53226
About this study
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).
- 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.
Read the 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.
- Conditions
- PHACE Syndrome
- Keywords
- PHACE syndrome, Hemangioma, Coarctation of aorta, Dandy Walker, Brain malformation, Eye anomaly, Sternal malformation, Genetic analysis, Cerebral artery anomaly
- Medical subject headings
- Aortic Aneurysm, Giant Congenital, Hemangioma, Aortic Coarctation, Eye Abnormalities
What is being measured
The primary outcome is the main question the study is designed to answer.
Establish a DNA and tissue bank.
Measured: 5 years
Determine candidate genes for PHACE syndrome using a genome-wide approach.
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Nov 2009 (estimated)
- Study startFeb 2007
- Primary completion15 Aug 2022
- Study completion15 Aug 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for PHACE SyndromeStudies of the same condition, open and under way.
- More trials run by Medical College of WisconsinThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 341 participants (actual)
Sponsor and investigators
- Lead sponsor
- Medical College of Wisconsin
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Dawn Siegel, Stanford University
- Investigators
- Dawn Siegel, MD, Principal investigator, Stanford University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01016756
- Sponsor's protocol ID
- PHACE_GENETICS
- Acronym
- PHACE
- Status last verified
- Mar 2023
- First submitted
- 18 Nov 2009
- Last updated
- 28 Mar 2023
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 19858157Metry 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. doi: 10.1002/ajmg.a.31189.
PubMed 16575892Frieden IJ, Reese V, Cohen D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol. 1996 Mar;132(3):307-11. doi: 10.1001/archderm.132.3.307.
PubMed 8607636
Study at a glance
From the registry record, last updated by the sponsor on 28 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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).
- ClinicalTrials.gov ID
- NCT01016756
- Acronym / sponsor ID
- PHACE / PHACE_GENETICS
- Conditions
- PHACE Syndrome
- Keywords
- PHACE syndrome, Hemangioma, Coarctation of aorta, Dandy Walker, Brain malformation, Eye anomaly, Sternal malformation, Genetic analysis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 341 participants (actual)
- Lead sponsor
- Medical College of WisconsinUniversity, hospital or other
- Study start
- Feb 2007 (actual)
- Primary completion
- 15 Aug 2022 (actual)
- Study completion
- 15 Aug 2022 (actual)
- First posted
- 19 Nov 2009 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
- 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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older 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.
Key inclusion criteria (1 listed)
- meets the clinical diagnostic criteria for PHACE syndrome.
Key exclusion criteria (1 listed)
- fails to meet the clinical diagnostic criteria for PHACE syndrome.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Mar 2023.
- Background: PubMed 19858157Metry 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.
- Background: PubMed 16575892Metry 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. doi: 10.1002/ajmg.a.31189.
- Background: PubMed 8607636Frieden IJ, Reese V, Cohen D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol. 1996 Mar;132(3):307-11. doi: 10.1001/archderm.132.3.307.
Related trials for PHACE Syndrome
Active, not recruitingObservational study
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
Aortopathies, Thoracic Aortic Aneurysm
Enrolling by invitationObservational study
PHACE - Prospective Genetic Investigation
PHACE Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Dawn Siegel, MD principal investigator
Stanford University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of PHACE Syndrome, run by Medical College of Wisconsin at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Establish a DNA and tissue bank. (time frame: 5 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01016756, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Mar 2023.