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| Name | Class |
|---|---|
| University of California, San Francisco | OTHER |
| Columbia University | OTHER |
| Baylor College of Medicine | OTHER |
| St. Justine's Hospital |
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We are conducting a study on the possible presence of PHACES in children with large facial hemangiomas and lumbosacral hemangiomas of infancy (hemangioma in the lower back) . With this study we hope to better understand the risk of this syndrome and to develop guidelines for its evaluation and management.
Large hemangiomas of the face can be associated with anomalies of the blood vessels of head and chest. The acronym PHACES indicates the association of Posterior fossa and other brain malformations, facial Hemangioma, Arterial anomalies, Coarctation of the aorta and other cardiac defects, Eye abnormalities and Sternal malformations. Study subjects will be recruited through the Pediatric Dermatology department in several cities. All patients age 0-1 year old of age, who present with large facial hemangioma (>22 cm^2) will be offered to participate in the study. Parents will be interviewed to obtain personal, medical, and family history.
Patients will undergo standard of care evaluation for facial hemangioma with risk of PHACE syndrome. This includes skin, eye and neurological examination, photograph, magnetic resonance imaging (MRI) of head/neck/chest, and lab tests requiring samples of blood, urine or stool. No other tests will be performed for participating in the study.
Lumbosacral hemangiomas of infancy (hemangioma in the lower back) can be associated with anomalies of the spine. "Tethered cord syndrome" indicates a condition caused by abnormally stretched spinal cord. Over time this condition can lead to neurological damage. Although often there are no symptoms until adulthood, it can become apparent during childhood. Common symptoms are: lower back pain, pain and weakness of the legs, walking problems, and bladder and bowel loss of control. "Occult spinal dysraphism" is the term used when the defect of the spine is hidden under normal skin. We noticed that infants with hemangioma in the lower back area are more inclined to present a hidden spine defect.
Study subjects will be recruited through the Pediatric Dermatology departments in several cities. All patients age 0-18 year old of age, who present with lumbosacral hemangioma (> 2.5 cm of diameter overlying the spine) will be offered to participate in the study. Parents will be interviewed to obtain personal, medical, and family history.
Patients will undergo standard of care evaluation for lumbosacral hemangioma. This includes skin, neurological examination, photograph, magnetic resonance imaging (MRI) of the back, lab tests requiring samples of blood, urine or stool. No additional tests will be performed only for participating in the study.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Facial Hemangioma | Other | Patients with large facial hemangioma. |
|
| Lumbosacral Hemangioma | Other | Patients with lumbosacral hemangioma. |
|
| Multiple Hemangiomas | Other | patients with multiple hemangiomas (>5) |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| MRI | Device | MRI of the spine. |
| |
| Measure | Description | Time Frame |
|---|---|---|
| MRI/MRA of Head/Neck/Chest. | 2 years | |
| Clinical Diagnosis of PHACE Syndrome | For subjects in the large facial hemangioma arm of the study, a clinical assessment by trained physicians was conducted to determine whether or not each subject met diagnostic criteria for PHACE syndrome. | 2 years |
| Spinal Abnormalities | The number of lumbrosacral hemangioma subjects with confirmed spinal abnormalities detected via lumbrosacral MRI. | 2 years |
| Cerebrovascular and Structural Brain Abnormalities | The number of PHACE subjects identified with cerebrovascular and/or structural brain abnormalities detected using MRI. | 2 years |
| Cardiac Abnormalities Detected Via Clinical Examination | The number of subjects with clinically definite PHACE syndrome who were identified as having cardiac abnormalities following clinical examination. | 2 years |
| Frequency of Hepatic Hemangiomas Detected Via Abdominal Ultrasound | The number of participants with multiple (greater than or equal to 5) cutaneous infantile hemangiomas who were found to have hepatic hemangiomas via the us abdominal ultrasound. | 2 years |
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Segmental Facial Hemangioma
Inclusion criteria:
Exclusion criteria:
Lumbosacral Hemangioma
Inclusion criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Beth Drolet, MD | Medical College of Wisconsin | Principal Investigator |
| Maria Garzon, MD | Columbia University | Principal Investigator |
| Denise Metry, MD | Baylor College of Medicine | Principal Investigator |
| Ilona Frieden, MD | University of California, San Francisco | Principal Investigator |
| Julie Powell, MD | Hopital Sainte-Justine | Principal Investigator |
| Anne Lucky, MD | Children's Hospital of Cincinnati | Principal Investigator |
| Sharon Glick, MD | State University of New York - Downstate Medical Center | Principal Investigator |
| Eulalia Baselga, MD | Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau | Principal Investigator |
| Anita Haggstrom, M.D. | Indiana University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Beth Drolet, MD | Milwaukee | Wisconsin | 53226 | United States |
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| ID | Title | Description |
|---|---|---|
| FG000 | Facial Hemangioma | Patients with large facial hemangioma. |
| FG001 | Lumbosacral Hemangioma | Patients with lumbosacral hemangioma. |
| FG002 | Multiple Hemangiomas | Patients with multiple hemangiomas |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Facial Hemangioma | Patients with large facial hemangioma. |
| BG001 | Lumbosacral Hemangioma | Patients with lumbosacral hemangioma. |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | MRI/MRA of Head/Neck/Chest. | Posted | Number | participants | 2 years |
|
|
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Facial Hemangioma | Patients with large facial hemangioma. |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Dr. Beth Drolet | Medical College of Wisconsin | 414-266-1569 | bdrolet@mcw.edu |
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| ID | Term |
|---|---|
| D006391 | Hemangioma |
| D009436 | Neural Tube Defects |
| ID | Term |
|---|---|
| D009383 | Neoplasms, Vascular Tissue |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D009421 | Nervous System Malformations |
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| OTHER |
| State University of New York - Downstate Medical Center | OTHER |
| Children's Mercy Hospital Kansas City | OTHER |
| Children's Hospital Medical Center, Cincinnati | OTHER |
| Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau | OTHER |
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| MRI of head and neck |
| Device |
MRI of head and C-spine |
|
| Dermatological Examination | Other | Complete dermatological examination to identify and characterize nature of dermatological anomalies |
|
|
| Cardiac examination | Other | Complete cardiac examination |
|
|
| Abdominal ultrasound | Device | Abdominal ultrasound to detect hepatic hemangiomas |
|
| Anthony Mancini, MD |
| Northwestern University |
| Principal Investigator |
| Kimberly Horii, MD | Children's Mercy Hospital Kansas City | Principal Investigator |
| BG002 | Multiple Hemangiomas | Patients with multiple hemangiomas |
| BG003 | Total | Total of all reporting groups |
| Participants |
|
| Age Continuous | Mean | Standard Deviation | years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Region of Enrollment | Number | participants |
|
|
| Primary | Clinical Diagnosis of PHACE Syndrome | For subjects in the large facial hemangioma arm of the study, a clinical assessment by trained physicians was conducted to determine whether or not each subject met diagnostic criteria for PHACE syndrome. | Subjects enrolled in the large facial hemangioma arm (n= 108) were analyzed for this outcome measure. | Posted | Number | Participants | 2 years |
|
|
|
| Primary | Spinal Abnormalities | The number of lumbrosacral hemangioma subjects with confirmed spinal abnormalities detected via lumbrosacral MRI. | Subjects enrolled in the lumbrosacral hemangioma arm (n= 48) were analyzed for this outcome measure | Posted | Number | Participants | 2 years |
|
|
|
| Primary | Cerebrovascular and Structural Brain Abnormalities | The number of PHACE subjects identified with cerebrovascular and/or structural brain abnormalities detected using MRI. | Subjects diagnosed with clinically definite PHACE syndrome, enrolled in the large facial hemangioma arm (n= 33) were analyzed for this outcome measure. | Posted | Number | Participants | 2 years |
|
|
|
| Primary | Cardiac Abnormalities Detected Via Clinical Examination | The number of subjects with clinically definite PHACE syndrome who were identified as having cardiac abnormalities following clinical examination. | Subjects diagnosed with clinically definite PHACE syndrome, enrolled in the large facial hemangioma arm (n= 33) were analyzed for this outcome measure. | Posted | Number | Participants | 2 years |
|
|
|
| Primary | Frequency of Hepatic Hemangiomas Detected Via Abdominal Ultrasound | The number of participants with multiple (greater than or equal to 5) cutaneous infantile hemangiomas who were found to have hepatic hemangiomas via the us abdominal ultrasound. | Subjects enrolled in the hepatic hemangioma arm (n= 151) were analyzed for this outcome measure. | Posted | Number | Participants | 2 years |
|
|
|
| 0 |
| 108 |
| 0 |
| 108 |
| EG001 | Lumbosacral Hemangioma | Patients with lumbosacral hemangioma. | 0 | 48 | 0 | 48 |
| EG002 | Multiple Hemangiomas | Patients with multiple hemangiomas | 0 | 201 | 0 | 201 |
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| D009422 | Nervous System Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |