Research

Research studies are advancing the knowledge of thoracic aortic aneurysm and dissection

Learn more about ongoing research studies for thoracic aortic aneurysm and dissection patients.

Female scientist looks through a microscope in a laboratory

“Dr. Milewicz, and my family who were a part of their research study, had no expectation that the gene or mutation would be identified in my lifetime. But a few years ago, it did happen. I got the call that Dr. Milewicz, and the research team that is funded by the John Ritter Foundation, found the genetic mutation in the LOX gene in our DNA. That phone call changed my life and the lives of my family. It changed our lives because now we know.”

Greg Weaver, John Ritter Foundation Board Member

Research studies are free to participate in, and in many cases you can participate remotely. You should understand the risks and benefits of each study before enrolling. Individuals are encouraged to participate in multiple studies if eligible. The John Ritter Foundation will not have access to any of the information you share with these research studies or any research results, including from the John Ritter Research Program.

John Ritter Research Program in Aortic and Vascular Diseases (JRRP)

The focus of JRRP is to discover more genes that cause thoracic aortic aneurysm or dissection, understand the genetic and environmental risk factors for developing thoracic aortic disease, and collect data on other symptoms associated with thoracic aortic disease.

Principal Investigator: Dr. Dianna Milewicz

Study contact: JRRP.research@uth.tmc.edu

Study website: https://med.uth.edu/internalmedicine/medical-genetics/john-ritter-research-program/

Who may be eligible: Individuals who have had a thoracic aortic dissection, individuals with a thoracic aortic aneurysm who have another close family member with a thoracic aortic aneurysm or dissection. Individuals with dissection who are deceased may still be eligible if a DNA sample is available and the next of kin consents.

Montalcino Aortic Consortium (MAC)

MAC is an international registry of individuals who harbor pathogenic (disease-causing) variants in hereditary thoracic aortic disease (HTAD) genes. The registry is formed to collect data based on an individual’s underlying gene to improve medical management of aortic and vascular disease.

Principal Investigator: Dr. Dianna Milewicz

Study contact: MAC@uth.tmc.edu

Study website: https://www.montalcinoaorticconsortium.org

Who may be eligible: Individuals with variants in ACTA2, MYH11, MYLK, PRGK1, LOX, TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, or COL3A1

VEDS Collaborative Research study

The VEDS Collaborative is a natural history study that collects medical data for individuals who carry pathogenic variants in the COL3A1 gene in an effort to develop appropriate medical care.

Principal Investigator: Dr. Sherene Shalhub

Study contact: vedscoll@uw.edu

Study website: https://depts.washington.edu/vedscoll/natural-history-study/

Inspiring New Science in Guiding Healthcare in Turner Syndrome (INSIGHTS)

INSIGHTS is a multi-institutional patient registry that reviews an individual’s medical history to learn more about Turner Syndrome and improve medical care for those affected.

Principal Investigator: Inspiring New Science in Guiding Healthcare in Turner Syndrome (INSIGHTS)

Study contact: TSGA@TSGAlliance.org

Study website: http://tsgalliance.org

Marfan Foundation Research Studies

The Marfan Foundation website has a list of various other research studies for the aortic and vascular disease community. Eligibility criteria, study contact information, and study summary can be found on the Marfan Foundation website.

If you’re a researcher and would like to learn about the John Ritter Foundation’s guidelines for promoting research studies please email info@johnritterfoundation.org.