PHACE SyndromePHACENCT01018082
Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE Syndrome
An observational study of PHACE Syndrome, run by Medical College of Wisconsin at 1 site in United States.
Trial summary
The overall goal of this 2-year pilot project is to utilize interdisciplinary strategies to determine the prevalence and type of neurodevelopmental impairment in PHACE syndrome, a rare vascular syndrome, and to rapidly translate discovery into clinical care guidelines that will identify at risk infants so early… Read more about this study
- Who is it for?
- Ages 4 to 6 years
- Conditions the study is for
- PHACE Syndrome
- How many people
- 30 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 2009to Nov 2016
- 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 4 to 6 years
- All sexes
- No healthy volunteers
- Child
Study population: Children between the ages of 4-6 years who fulfill the diagnostic criteria for PHACE syndrome will be contacted for enrollment.
Who may be able to join
- Fulfills definite or possible PHACE syndrome diagnostic criteria, per consensus statement November 2008;
- Child is between 4-6 years of age; and
- Parents able and willing to travel to our center (Medical College of Wisconsin) for evaluations.
Who cannot join
- Patients with known genetic disorders in addition to PHACE syndrome;
- Patients unable to undergo adequate MR imaging due to pacemaker or other MRI-incompatible implant(s); or
- Non-English and non-Spanish speaking patients will be excluded due to interpreter-related inconsistencies in neurocognitive testing. Clinical Evaluation: A standardized electronic data collection form will be designed. Demographic data, clinical -
Trial locations and contacts
1 site in 1 country.
United States1 site
Childrens Hospital of Wisconsin
Milwaukee, Wisconsin, 53226
About this study
Official title: Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes in PHACE Syndrome
The overall goal of this 2-year pilot project is to utilize interdisciplinary strategies to determine the prevalence and type of neurodevelopmental impairment in PHACE syndrome, a rare vascular syndrome, and to rapidly translate discovery into clinical care guidelines that will identify at risk infants so early intervention can be initiated. Infantile hemangioma is the most common benign tumor of infancy, with an incidence estimated between 4-5%. A subgroup of patients with infantile hemangiomas exhibits additional associated structural anomalies of the brain, cerebral vasculature, eyes, aorta, heart, and chest wall in the rare neurocutaneous disorder called PHACE syndrome (OMIM 606519). PHACE refers to Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/aortic coarctation, and abnormalities of the Eye. Affected children have multi-organ involvement, and an increasing number of cerebral, cerebellar, and cerebrovascular anomalies are being described; however, the significance of these neuroradiologic findings is not known. As the investigators' neonates with hemangiomas have grown into young children, neurodevelopmental impairment has become more evident, even among patients without MRI evidence of stroke or structural brain anomalies. Some infants develop progressive cerebral arterial disease leading to a moyamoya-like vasculopathy and ischemic stroke. An interdisciplinary research project studying brain and cerebral vascular imaging in concert with neurological, psychological, behavioral, neurodevelopmental, and quality of life outcome measures has never been conducted. Diagnostic and management guidelines are also lacking. The investigators' long-term goal is to develop medical and/or surgical therapeutic interventions that improve the overall health of children with PHACE syndrome. This novel project constitutes the first study of the most devastating feature of PHACE syndrome: the neurodevelopmental sequelae.
Read the detailed description
Aim 1) Establish a cohort of 30 well-characterized patients with PHACE syndrome and enhance existing tissue and DNA banks to facilitate future investigation.
We will use rigorous phenotyping strategies to establish a cohort of 30 patients with PHACE syndrome 4-6 years of age, and collect neuroimaging studies and patient tissue and DNA samples to enhance an existing tissue repository to facilitate future studies, such as validation of biomarkers.
Aim 2) Determine the prevalence and describe the spectrum of neurodevelopmental impairment in a cohort of patients 4-6 years of age with PHACE syndrome.
Given the multiple risk factors for neurodevelopmental deficits in PHACE patients, we propose a comprehensive assessment of a cohort of patients 4-6 years of age, this age range represents a critical period, as it is the time that most children enter the formal educational system and it allows for a more thorough evaluation of neurodevelopmental skills. Upon completion of this 2-year study we expect to have immediate impact on clinical care by identifying specific deficits in this cohort. Once identified and quantified, we will publish the data with clinical guidelines for patient management including age and frequency of neuroimaging, frequency of neurologic evaluation, and age and utility of neurodevelopmental assessment. We anticipate that these guidelines will identify at risk infants and early intervention can be initiated, resulting in improved functional outcomes. In addition, this data will provide a cost-effective functional outcome methodology that can be used for clinical trials and to validate biomarkers identified in this pilot study.
Aim 3) Identify potential clinical, molecular, biochemical, and imaging biomarkers aimed at early detection and risk stratification of cerebrovasculopathy and neurodevelopmental impairment.
We hypothesize that certain risk factors including, but not limited to, genotype, hemangioma size, hemangioma location, cerebral anomalies, cerebellar anomalies, and cerebrovascular anomalies predispose patients to progressive vasculopathy. We will determine risk factors and identify biomarkers for progressive cerebrovascular disease. Based on this information we will establish guidelines for serial and diagnostic cerebrovascular imaging and develop a method of risk-stratification that will allow for early clinical prediction and intervention of long-term neurodevelopmental prognosis. Specific Aims
- Conditions
- PHACE Syndrome
- Medical subject headings
- Aortic Aneurysm, Giant Congenital
What is being measured
The primary outcome is the main question the study is designed to answer.
Establish a cohort of 30 patients 4-6 years of age, define the functional and neurodevelopmental outcome of PHACE syndrome, and identify potential biomarkers that predict progressive vasculopathy, ischemic stroke, and neurodevelopmental impairment
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Nov 2009 (estimated)
- Study startSep 2009
- Primary completionNov 2016
- Study completionNov 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 30 participants (actual)
Sponsor and investigators
- Lead sponsor
- Medical College of Wisconsin
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Beth A Drolet, MD, Medical College of Wisconsin
- Investigators
- Beth Drolet, MD, Principal investigator, Children's Hospital and Health System Foundation, Wisconsin
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01018082
- Sponsor's protocol ID
- CHW09/140, GC 942
- Acronym
- PHACE
- Status last verified
- Mar 2017
- First submitted
- 20 Nov 2009
- Last updated
- 22 Mar 2017
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Mar 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes in PHACE Syndrome
- ClinicalTrials.gov ID
- NCT01018082
- Acronym / sponsor ID
- PHACE / CHW09/140, GC 942
- Conditions
- PHACE Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 30 participants (actual)
- Lead sponsor
- Medical College of WisconsinUniversity, hospital or other
- Study start
- Sep 2009
- Primary completion
- Nov 2016 (actual)
- Study completion
- Nov 2016 (actual)
- First posted
- 23 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.
The overall goal of this 2-year pilot project is to utilize interdisciplinary strategies to determine the prevalence and type of neurodevelopmental impairment in PHACE syndrome, a rare vascular syndrome, and to rapidly translate discovery into clinical care guidelines that will identify at risk infants so early intervention can be initiated. Infantile hemangioma is the most common benign tumor of infancy, with an incidence estimated between 4-5%. A subgroup of patients with infantile hemangiomas exhibits additional associated structural anomalies of the brain, cerebral vasculature, eyes, aorta, heart, and chest wall in the rare neurocutaneous disorder called PHACE syndrome (OMIM 606519). PHACE refers to Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/aortic coarctation, and abnormalities of the Eye. Affected children have multi-organ involvement, and an increasing number of cerebral, cerebellar, and cerebrovascular anomalies are being described; however, the significance of these neuroradiologic findings is not known. As the investigators' neonates with hemangiomas have grown into young children, neurodevelopmental impairment has become more evident, even among patients without MRI evidence of stroke or structural brain anomalies. Some infants develop progressive cerebral arterial disease leading to a moyamoya-like vasculopathy and ischemic stroke. An interdisciplinary research project studying brain and cerebral vascular imaging in concert with neurological, psychological, behavioral, neurodevelopmental, and quality of life outcome measures has never been conducted. Diagnostic and management guidelines are also lacking. The investigators' long-term goal is to develop medical and/or surgical therapeutic interventions that improve the overall health of children with PHACE syndrome. This novel project constitutes the first study of the most devastating feature of PHACE syndrome: the neurodevelopmental sequelae.
Detailed description
Aim 1) Establish a cohort of 30 well-characterized patients with PHACE syndrome and enhance existing tissue and DNA banks to facilitate future investigation.
We will use rigorous phenotyping strategies to establish a cohort of 30 patients with PHACE syndrome 4-6 years of age, and collect neuroimaging studies and patient tissue and DNA samples to enhance an existing tissue repository to facilitate future studies, such as validation of biomarkers.
Aim 2) Determine the prevalence and describe the spectrum of neurodevelopmental impairment in a cohort of patients 4-6 years of age with PHACE syndrome.
Given the multiple risk factors for neurodevelopmental deficits in PHACE patients, we propose a comprehensive assessment of a cohort of patients 4-6 years of age, this age range represents a critical period, as it is the time that most children enter the formal educational system and it allows for a more thorough evaluation of neurodevelopmental skills. Upon completion of this 2-year study we expect to have immediate impact on clinical care by identifying specific deficits in this cohort. Once identified and quantified, we will publish the data with clinical guidelines for patient management including age and frequency of neuroimaging, frequency of neurologic evaluation, and age and utility of neurodevelopmental assessment. We anticipate that these guidelines will identify at risk infants and early intervention can be initiated, resulting in improved functional outcomes. In addition, this data will provide a cost-effective functional outcome methodology that can be used for clinical trials and to validate biomarkers identified in this pilot study.
Aim 3) Identify potential clinical, molecular, biochemical, and imaging biomarkers aimed at early detection and risk stratification of cerebrovasculopathy and neurodevelopmental impairment.
We hypothesize that certain risk factors including, but not limited to, genotype, hemangioma size, hemangioma location, cerebral anomalies, cerebellar anomalies, and cerebrovascular anomalies predispose patients to progressive vasculopathy. We will determine risk factors and identify biomarkers for progressive cerebrovascular disease. Based on this information we will establish guidelines for serial and diagnostic cerebrovascular imaging and develop a method of risk-stratification that will allow for early clinical prediction and intervention of long-term neurodevelopmental prognosis. Specific Aims
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 4 to 6 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Children between the ages of 4-6 years who fulfill the diagnostic criteria for PHACE syndrome will be contacted for enrollment.
Key inclusion criteria (3 listed)
- Fulfills definite or possible PHACE syndrome diagnostic criteria, per consensus statement November 2008;
- Child is between 4-6 years of age; and
- Parents able and willing to travel to our center (Medical College of Wisconsin) for evaluations.
Key exclusion criteria (3 listed)
- Patients with known genetic disorders in addition to PHACE syndrome;
- Patients unable to undergo adequate MR imaging due to pacemaker or other MRI-incompatible implant(s); or
- Non-English and non-Spanish speaking patients will be excluded due to interpreter-related inconsistencies in neurocognitive testing. Clinical Evaluation: A standardized electronic data collection form will be designed. Demographic data, clinical -
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 cohort of 30 patients 4-6 years of age, define the functional and neurodevelopmental outcome of PHACE syndrome, and identify potential biomarkers that predict progressive vasculopathy, ischemic stroke, and neurodevelopmental impairment
Time frame: 2 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 22 Mar 2017.
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.
Beth Drolet, MD principal investigator
Children's Hospital and Health System Foundation, Wisconsin
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 3 inclusion and 3 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 22 Mar 2017. 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 cohort of 30 patients 4-6 years of age, define the functional and neurodevelopmental outcome of PHACE syndrome, and identify potential biomarkers that predict progressive vasculopathy, ischemic stroke, and neurodevelopmental impairment (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 22 Mar 2017.