PHACE - Prospective Genetic Investigation

Clinical Trial Description

Subjects with PHACE syndrome diagnosis will undergo a brief physical examination with possible external photographs. Cheek swabs will be sent for genetic analysis. Subjects will be notified of the results. ;

Study Design

Related Conditions & MeSH terms

PHACE Syndrome

See also
Status	Clinical Trial	Phase
Completed	`NCT01018082` - Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE Syndrome	N/A
Completed	`NCT01016756` - Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)
Recruiting	`NCT03440697` - Pathogenetic Basis of Aortopathy and Aortic Valve Disease

See also

Status

Clinical Trial

Phase

Completed

NCT01018082 - Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes of PHACE Syndrome

N/A

Completed

NCT01016756 - Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)

Recruiting

NCT03440697 - Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Interventional studies are often prospective and are specifically tailored to evaluate direct impacts of treatment or preventive measures on disease.

Observational studies are often retrospective and are used to assess potential causation in exposure-outcome relationships and therefore influence preventive methods.

Expanded access is a means by which manufacturers make investigational new drugs available, under certain circumstances, to treat a patient(s) with a serious disease or condition who cannot participate in a controlled clinical trial.

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

NCT number	NCT05133245
Study type	Observational
Source	Vanderbilt University Medical Center
Contact
Status	Enrolling by invitation
Phase
Start date	November 1, 2021
Completion date	November 1, 2025

PHACE - Prospective Genetic Investigation — PHACE

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms