Research

Researchers in the University of Pennsylvania Department of Ophthalmology are launching a study to investigate how Marfan Syndrome, Ehlers-Danlos Syndrome, and other inherited connective tissue diseases affect the eyes. The investigators believe that little is known about how these diseases present in the eyes, and hope that this study will provide more information and inspire future studies to develop targeted therapies.

The brief, 5-minute, anonymous survey asks for basic demographic information, genetic diagnosis, eye-related symptoms, and other health conditions. There is also an option to upload previously taken retinal imaging (e.g. fundus photography, optical coherence tomography). If you do not have your imaging with you currently, you will get a survey return code that you can use to upload images later.

The survey can be accessed at: HTTPS://REDCAP.MED.UPENN.EDU/SURVEYS/?S=DCR3RNJ4F9743FYD.

The genetic counseling program at the University of South Carolina is interested in learning about factors that impact an individual’s decision to pursue genetic testing and their experiences with obtaining insurance. Participation is limited to individuals with a personal or family history of aortopathy (i.e., enlarged/dilated/weak aorta, aortic aneurysm, aortic dissection) or cardiomyopathy (i.e., heart shape or function abnormalities, such as dilated, hypertrophic, etc.) and involves completion of a 15-20 minute survey. Study participants have the option to enter a raffle to receive one of ten available $10 VISA gift cards.

Who is eligible?

Individuals who wish to complete the study survey must meet each of the following criteria:

• Must be 18 years or older

• Must be a resident of the United States

• Must have either a clinical diagnosis or positive genetic test results for either aortopathy (enlarged/dilated/weak aorta, aortic aneurysm, aortic dissection ) and/or cardiomyopathy (dilated, hypertrophic, etc.) OR have a family member with a clinical diagnosis or positive genetic test results for either aortopathy (enlarged/dilated/weak aorta, aortic aneurysm, aortic dissection ) and/or cardiomyopathy (dilated, hypertrophic, etc.)

• Must have been offered or considered genetic testing for aortopathy and/or cardiomyopathy

Where can the survey be found?

Interested individuals can complete the survey here: HTTPS://REDCAP.LINK/2MKR7OE3

For more information or any questions regarding the study, please contact JULIA.SCHOENI@USCMED.SC.EDU.

Dr. Pamela Guerrerio at the National Institutes of Health (NIH) is conducting a research study to learn more about Loeys-Dietz Syndrome and other related genetic syndromes, including Shprintzen-Goldberg syndrome.

Evaluations may involve consultations with specialists (from Allergy, Immunology, Endocrine and Bone Health, Dentistry, Craniofacial Team, Occupational and Physical Therapy, Adult Gastroenterology, Audiology, ENT, and/or Pain and Alternative Medicine) and may include a blood draw, answering questionnaires, and radiology studies.

Patients will not be charged for any service offered, and medical insurance is not required. The NIH will pay for travel and accommodations for any necessary follow-up evaluations. Interested patients should contact Ellen Zektser (zektsere2@niaid.nih.gov) to learn more about the study.

Thank you for your consideration and support in trying to make further inroads into our understanding of Loeys-Dietz syndrome and related diseases.

Genetic counseling students at Sarah Lawrence College are interested in learning more about the experiences of individuals and partners of individuals with vascular connective tissue disorders (e.g., Marfan syndrome, Loeys-Dietz syndrome, Vascular Ehlers-Danlos syndrome, familial thoracic aortic aneurysm and dissection, etc.) and pursuing surrogacy via a gestational carrier or surrogate as an option for family planning.

Who is eligible?

Individuals or partners of individuals with a genetic or clinical diagnosis of a vascular connective tissue disorder (e.g., Marfan syndrome, Loeys-Dietz syndrome, Vascular Ehlers-Danlos syndrome, familial thoracic aortic aneurysm and dissection, etc.) who were counseled on pursuing surrogacy or pursued surrogacy via a gestational carrier or surrogate as part of family planning.

What is involved?

One 60-minute virtual semi-structured interview per participant with approximately ten planned questions and time for additional follow-up questions as needed.

Study participants will receive either a $50 VISA gift card or the option to donate this amount to an organization of their choice.

For more information or to participate, email SLCAATHESIS@GMAIL.COM.

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:

1. Classic Marfan syndrome with either FBN1 mutation or history of lens dislocation/subluxation

2. Early-onset/ Neonatal/ Infantile Marfan syndrome with FBN1 mutation

3. Loeys-Dietz syndrome with TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, or SMAD3 mutation

4. Vascular Ehlers-Danlos syndrome with COL3A1 mutation

5. Arterial Tortuosity syndrome with SLC2A10 mutation

6. Shprintzen-Goldberg syndrome with SKI mutation

7. Cutis Laxa Type 2B with recessive EFEMP2/FBLN4 mutations

8. ACTA2-associated aortic or arterial disease

9. FLNA-associated aortic or arterial disease

10. LOX-associated aortic or arterial disease

11. MYLK-associated aortic disease

12. 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.

For more information, please visit the study website: CLARITYREGISTRY.COM

If you have any questions, or if you are interested in enrolling, please contact the study research coordinator, Nadia Espahbodi at NXESPAHB@TEXASCHILDRENS.ORG.

A Twist of Fate-ATS is interested in learning more about individuals affected by Marfan syndrome, Loeys-Dietz syndrome, Vascular Ehlers-Danlos syndrome, Stickler syndrome, arterial tortuosity syndrome, cutis laxa, and Myhre syndrome, including the medical specialists seen most frequently by these individuals, the most significant challenges they experience in daily life, and where gaps in knowledge of these conditions may exist.

Any individual affected by Marfan syndrome, Loeys-Dietz syndrome, Vascular Ehlers-Danlos syndrome, Stickler syndrome, arterial tortuosity syndrome, cutis laxa, and Myhre syndrome is encouraged to participate by completing at least one de-identified survey. A parent or guardian may complete the survey for an individual who is under the age of 18, or a legally authorized representative (LAR) may complete the survey on behalf of an adult who is unable to provide consent.

The surveys request basic contact, sociodemographic, and health information. This information will be saved under a unique coded identifier that cannot be traced back to participants.

To complete the survey, click here.

For more information about this study, call Andrea Taylor at (501) 605-3991 or email Andrea@ATwistofFate.org.

Researchers at Stanford University are interested in learning how the use of resources (e.g., meetings, community events, social media, etc.) changed before and during the COVID-19 pandemic as well as how patients want to access resources moving forward. The study team will use the insight they gain to help healthcare providers, organizations, and support groups better tailor resources for the communities they serve.

In this study, participants will be asked to complete an anonymous online survey. The survey is estimated to take approximately 15 minutes or less and will ask questions regarding resources used prior to the COVID-19 pandemic, during the COVID-19 pandemic, and perceived benefits and drawbacks of these resources. The survey also contains questions that investigate preferences for resource use moving forward.

Individuals must meet the following criteria to participate in the study:

• Be 18 years or older

• Have, or have a child with, one of the following conditions:

  • Vascular Ehlers-Danlos syndrome

  • Marfan syndrome

  • Loeys-Dietz syndrome

  • Hereditary thoracic aortic disease

To complete the anonymous survey, go to https://StanfordUniversity.Qualtrics.com/JFE/FORM/SV_BE4TYJMOSVLABKS.

For questions related to this study, contact Diego Quintero at diquinte@Stanford.edu.

The NIGMS (National Institute of General Medical Sciences) Repository, housed at the Coriell Institute, is a research biobank that collects blood and/or tissue samples from individuals with genetic diseases and makes them into cell lines and DNA for scientists to use in biomedical research. Loeys-Dietz syndrome (LDS), Vascular Ehlers-Danlos syndrome (VEDS), and Marfan syndrome were recently listed on the American College of Medical Genetics and Genomics list of actionable conditions for increased research.

Coriell is now accepting blood (for lymphoblasts) and skin biopsy (for fibroblasts) samples from individuals with LDS, VEDS, and Marfan syndrome as well as their family members and relatives from domestic and international locations around the world.

Donors will receive a sample collection kit, instructions, and all necessary materials for collecting samples and returning the kit free of charge. Sample donors are required to submit supporting clinical data (e.g., genetic test results, medical records, physician summary records) that describes the diagnosis.

To submit a sample to the NIGMS Repository, email NIGMS@CORIELL.ORG with the following information:

The requested number of blood and skin biopsy collection kits for your family member(s)

Full name and age (for children) of each family member who will donate samples

The name, address, and phone number of the person or clinician to whom the collection kit(s) should be shipped.

Coriell does not conduct its own research but provides the materials for scientists around the world to perform research on genetic disorders. Also, Coriell does not provide donors with any results regarding their genetic disease nor information on their sample itself. For more information about Coriell and the sample donation process click here.