Long term outcomes and quality of life in PHACE syndrome
A
Anita Haggstrom, MD
Primary Investigator
Enrolling By Invitation
10 years - 100 years
All
Phase
N/A
100 participants needed
2 Locations
Brief description of study
What is the purpose of this study?
The purpose of this study is to investigate symptoms and long-term outcomes of PHACE syndrome in people. In this study, we will learn how PHACE syndrome presents as people grow up and how the disease impacts daily life. We will investigate overall health, signs and symptoms of the PHACE acronym (posterior fossa abnormalities, hemangiomas, arterial anomalies, cardiac anomalies, and eye anomalies), including IH-related and neurovascular/neurocognitive outcomes. This study will be the largest investigation into long term outcomes of PHACE and the first to capture the experiences of adolescents with this disease.
THIS STUDY IS ENROLLING BY INVITATION ONLY - Patients will be contacted through telephone and secure portals like "My IU Health" portal by the PI who is already involved in their care or by a member of the research team. Patients may also be approached by the PI or a member of the study team during their routine standard of care. Moreover, potential subjects who have seen the PI for their standard of care, will be recruited via data pull from the medical records, Cerner, using ICD-9 and ICD-10 codes for PHACE syndrome. They will e initially contacted via phone by one of the research team members about study participation.
Detailed description of study
What will happen duringt the study?
In this study, we will collect data on symptoms, outcomes, and quality of life (QoL) in patients ≥10 years old with PHACE to better understand the natural history and long-term outcomes of the disease. We will investigate overall health (comorbid diagnoses, hearing, endocrine, dental, social/emotional, and gynecologic/fertility in patients >18 years old) as well as signs and symptoms captured in the PHACE acronym.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
- Conditions: PHACE syndrome, Riley
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Age: 10 years - 100 years
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Gender: All
Inclusion Criteria:
- 1. Age >10 years2. Diagnosis of definite PHACE, as established in the 2016 Consensus Guidelines.
Exclusion Criteria:
- 1. Age < 10 years2. Diagnosis of possible PHACE or facial hemangioma without PHACE diagnosis
Updated on
11 Feb 2025.
Study ID: DERM-UCSF-PHACE, 12531
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