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Research participants wanted for The Collaborative For Longitudinal Aortic Imaging In The Young (CLARITY):
Are you interested in helping researchers develop the world’s largest database for children and young adults with genetic aortic disease? Researchers at Texas Children’s Hospital are interested in learning more about young people with aortic disease that has a genetic basis. They are asking for your help because there are currently no medical guidelines on how to best manage aortic dilation in children, and little is known about the long-term outcomes of these genetic conditions. In an effort to learn more, researchers will collect clinical information from your medical records to better understand how the aorta changes over time, and how your genotype (your unique genetic code) affects your disease. This information will help create guidelines that will provide better tools for doctors to diagnose, estimate risks, and treat children and young adults with genetic aortic disease. These guidelines aim to improve the care and quality of life for individuals diagnosed with these conditions.
One is eligible to participate in the CLARITY study if they were diagnosed under age 50 and meet one of the following criteria:
- Classic Marfan syndrome with either FBN1 mutation or history of lens dislocation/subluxation
- Early-onset/ Neonatal/ Infantile Marfan syndrome with FBN1 mutation
- Loeys-Dietz syndrome with TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, or SMAD3 mutation
- Vascular Ehlers-Danlos syndrome with COL3A1 mutation
- Arterial Tortuosity syndrome with SLC2A10 mutation
- Shprintzen-Goldberg syndrome with SKI mutation
- Cutis Laxa Type 2B with recessive EFEMP2/FBLN4 mutations
- ACTA2-associated aortic or arterial disease
- FLNA-associated aortic or arterial disease
- LOX-associated aortic or arterial disease
- MYLK- associated aortic disease
- MYH11- associated aortic disease
To participate, you will be asked to sign a consent form and a medical records release form to allow the research team to collect personal medical information related to your genetic diagnosis. This information will be stored in a secure database and used for study analysis. Other than signing these forms, research participants will not be asked to take any further actions, such as attending research visits, participating in clinical trials, etc.
If you are interested in enrolling, please submit the patient enrollment form.