Defining the Pathobiology of Coarctation of the Aorta

B
Benjamin Landis, MD

Primary Investigator

Enrolling By Invitation
1 year - 100 years
All
Phase N/A
6 participants needed
4 Locations

Brief description of study

What is this study about?
Coarctation of the aorta (CoA) tissues contain distinctive cell populations, and comprehensive analysis of these cells will provide understanding of cell abnormalities that are driving CoA. We want to define these types of cells that are abnormally located in the diseased aortic tissues of neonates with CoA and determine how specific types of cells are abnormally functioning. This will advance our understanding of cell abnormalities so that we may identify new medical targets and develop new medical treatments to avoid invasive surgeries in these patients.

The goals of this study are to 1) generate a comprehensive landscape of the resident cells in CoA, 2) define the pathogenesis of CoA within cellular subpopulations, and 3) to establish a biorepository with detailed phenotype information.

THIS STUDY IS ENROLLING BY INVITATION ONLY - The majority of potential study participants will be initially identified through inpatient or outpatient clinical encounters or by requesting permission to contact through the subject's treating physician. A recruitment database will also be created that will include basic health information (primary disease) and demographic info and will be used to identify and recruit potential research participants. Participants will either be contacted at a clinic visit, while they are inpatient, or over the phone about study participation.

Detailed description of study

What will happen during the study?
•    This study may help us create different treatment options for a certain heart defect called coarctation of the aorta.
•    Study participation includes a blood draw (or a cheek swab/saliva sample if unable to collect blood), a family history, a medical record review, and allowing the study team to use leftover surgical tissue (if applicable).
•    Risks of blood draw include pain, bruising, or bleeding at the site. Risks of a cheek swab/saliva sample include temporary dryness or slight discomfort in your mouth. Another potential risk is a loss of confidentiality. See a complete list of risks described later in this form.
•    Benefits of participating include learning more information about coarctation of the aorta and potentially benefiting others by learning more about how to improve medical care.
•    There is no cost or compensation for participation.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: coarctation of the aorta, CoA, Riley
  • Age: 1 year - 100 years
  • Gender: All

Inclusion Criteria:
• Participants with coarctation of the aorta (based on any cardiac imaging modality including echocardiography, CT, MRI, or angiography)
• Family members of eligible participants

Exclusion Criteria:

• Inability or unwillingness to provide consent (assent when indicated)

Updated on 13 Sep 2024. Study ID: PCRD-IIR-COA, 17796
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