Know the Signs, Fight for Victory

Studies Seeking Participants

The following studies are currently recruiting participants. Review the eligibility criteria and contact the researcher for more information or to get started.

  • COVID-19 and Vaccine Survey

    In order to continue to learn about the Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS) and vascular Ehlers-Danlos syndrome (VEDS) communities’ experience with COVID-19, Johns Hopkins investigators are conducting a research study that consists of a brief survey to better understand outcomes.

    Hopkins physicians continue to recommend the advice given by the CDC (https://www.cdc.gov/coronavirus/2019-ncov/vaccines/index.html) and The Marfan Foundation Professional Advisory Board (https://www.marfan.org/covid19) and support vaccine use in these populations.

    There have been questions and some concerns about myocarditis (inflammation of the heart muscle) in relation to COVID-19 infection or vaccination. There is no current evidence that people with vascular connective tissue disorders are at higher risk from this or other potential complications of COVID-19 or vaccination.

    In order to learn more about COVID-19 and vaccination in relevant populations, you are asked to consider taking a 10-minute survey about your experience.

    It is important that the research team get a balanced view about how people are doing with COVID infection and vaccination. Please consider completing the survey if you or your family member have done well since the onset of the pandemic or if you or your family member have had problems. Everyone’s experience is valuable.

    Answering the survey questions implies consent for participation in this study. If you choose to provide your contact information, it implies your consent to contact you for additional information.

    The study is asking for participation of:

    • People living in the United States
    • Individuals older than 18 years with MFS, LDS or VEDS
    • Parents of children (ages less than 18 years) with MFS, LDS or VEDS
    • Family members of individuals with MFS, LDS or VEDS who passed away after Jan 1, 2019

    To participate in this study on behalf of yourself or for family member, please fill out one study form per individual with MFS, LDS or VEDS. If you have a child between the ages of 5-11 and are intending to vaccinate them against COVID-19, we would ask that you fill out the survey for them about 8 weeks after their second vaccination for COVID-19.

    The survey can be found by clicking this link or cutting and pasting the following into your browser (https://mrprcbcw.hosts.jhmi.edu/redcap/surveys/?s=FYKLWLAC47).

    For more information or questions please email us at ctdCOVIDstudy@jhmi.edu.

    Hal Dietz MD, Gretchen MacCarrick MS, CGC, & Tony Guerrerio MD, PhD (Johns Hopkins Principal Investigator)
    Johns Hopkins University School of Medicine
    McKusick-Nathans Institute of Genetic Medicine
    IRB00299540

  • Hip Joint Function and Health in Patients with Marfan Syndrome

    Researchers at the University of Kentucky are inviting you to participate in a highly collaborative, research project that aims at better understanding hip joint health and function in patients with Marfan syndrome. The study will be conducted at the Human Performance Laboratory at the University of Kentucky. Testing will take between 3-4 hours and can be split between two days. The x-ray and MRI performed will be paid for by the study. You will be compensated for your participation in this study.

    You may eligible to participate if you:

    • Are between the ages of 18-75
    • Are able to undergo an MRI (i.e., not pregnant, no pacemaker, etc.)
    • Are cleared for exercise by your physician
    • Have a confirmed diagnosis of Marfan syndrome by a physician

    For more information, contact Michael Samaan at (859) 257-2706 or michael.samaan@uky.edu.

  • NIGMS Repository Sample Requests for VEDS, LDS, and Marfan Syndrome

    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.

  • Sexual Functioning and its Relation to Ehlers-Danlos Syndrome (EDS)

    Researchers at Midwestern University are conducting a study titled “Sexual Functioning and its Relation to Ehlers-Danlos Syndrome (EDS)” to understand gynecological impacts of hypermobility.

    You can participate in the study if you:

    • Have an Ehlers-Danlos syndrome/hypermobility spectrum disorder diagnosis
    • Are 18 years or older
    • Were assigned female at birth
    • Can comfortably complete a survey in English

    Participation involves:

    • Completing an anonymous online survey about your sexual health and gynecological functioning. The survey should take no more than 15 minutes to complete.

    To complete the survey, visit https://redcap.midwestern.edu/surveys/?s=YWRWPL949H. To contact the principal investigator, Tom B. Virden III, PhD, email tvirde@midwestern.edu.

  • Neonatal Marfan Syndrome Study

    Who is eligible?

    Individuals with Marfan syndrome confirmed by genetic testing (FBN1 gene mutation) who have:

    • A diagnosis of “early-onset” or neonatal Marfan syndrome confirmed by a genetics or cardiology healthcare provider OR
    • Cardiac valve disease or severe problems with heart valves before age 1.

    What does the study involve?

    • Review of your child’s medical record. Parents can sign a release form to provide access to medical records.
    • If your child is planning to have surgery as a part of their planned medical care, parents have the option to allow a sample (excess tissue) to be collected for research at the time of surgery.
    • No travel required.

    Healthcare providers who see patients with neonatal Marfan syndrome

    • We are also collecting clinical data retrospectively for patients who are deceased and/or are not actively being followed.

    Please contact us at MAC@uth.tmc.edu or 713-500-6715 for more information about this study.

  • Vascular Ehlers-Danlos Syndrome (vEDS) Research Collaborative Study

    The vEDS Collaborative is dedicated to supporting the Vascular Ehlers-Danlos community in driving patient-centered outcomes research (PCOR) to improve the management of vEDS and increase the quality of life for people impacted by vEDS.

    As part of the vEDS Collaborative, the University of Washington is conducting a natural history study to define the contribution of known vEDS gene mutations to vEDS complications and outcomes. The researchers are seeking individuals 18 years of age or older with molecular confirmation of Vascular Ehlers-Danlos Syndrome (i.e., diagnosis through genetic testing results or skin biopsy results) who are willing to share their medical records and radiologic imaging to support a natural history study where the course of vEDS can be followed.

    The hope is that this work will lead to treatment guidelines based on the underlying gene mutation and the discovery and/or creation of novel medical practices, diagnostic tools, protective therapies and medicines for the future that will prevent and/or cure the complications of vEDS.

    More information about the study is available online. If you are interested in taking part in the study or would like more information, please contact the study team at (206) 353-3076 or vedscoll@uw.edu.

  • Pregnancy and Cardiac Disease Research

    Researchers at the University of Texas Health Science Center at Houston are participating in the Registry on Pregnancy and Cardiac Disease (ROPAC), a worldwide project of the European Society of Cardiology. They are currently enrolling any women who became pregnant any time after December 2017 and who have, or have had, one of the following heart or blood vessel problems:

    • Aortic aneurysm
    • Aortic dissection
    • Heart valve replacement surgery
    • Marfan syndrome, Loeys-Dietz syndrome, or another condition that can cause aortic aneurysms or dissections

    If you meet these criteria, you may be eligible for the study.  Enrollment takes only minutes and your contribution will provide lasting benefits to other women who have potentially fatal conditions. If you would like additional information or if you would like to enroll, please call the ROPAC study team at 713-500-6704.

  • Cardiac MRI Flow Characterization for Aortic Aneurysms

    Aortic aneurysm surgery is often used to treat people with Marfan syndrome and other conditions that enlarge (dilate) the aorta. Aneurysm surgery can be life-saving, but some people can again develop aortic enlargement late after initial surgery.

    This research will use new imaging (magnetic resonance) techniques to examine impact of surgical grafting on aortic shape and blood flow. Participation in this study involves an MRI exam before your aortic graft surgery. When/if you undergo surgery, we will ask to use aortic tissue obtained (that would otherwise be discarded) to compare MRI findings to actual tissue features. After your surgery, we will ask you to return for another MRI about six months following your procedure.

    MRI exams will take place at Weill Cornell Medical College in New York City. Our research team will work with you to schedule your study visits on days and times that are convenient for you. If not ordered for clinical purposes by your doctor, your MRI exams will be paid for by the research study and will be of no cost to you.

    You may be eligible for this study if you:

    • Have Marfan syndrome or another condition in which your aorta is dilated (enlarged)
    • Are being considered for or have undergone aortic graft surgery

    You aren’t eligible if you:

    • Can’t have an MRI because you have a pacemaker, defibrillator, or other contraindication
    • Are very claustrophobic (have a fear of small spaces)
    • Are pregnant (at time of MRI)

    The Cornell research team includes leading investigators with expertise in cardiac imaging, cardiothoracic surgery, biomedical engineering, and clinical outcomes research. Dr. Jonathan Weinsaft (Director, Cornell Cardiac MRI program), the leader of this study, is an expert in the field of cardiac MRI and aortic imaging.

    To learn more about this study, please contact the research team by e-mail at jww2001@med.cornell.edu or by phone at (212) 746-2627. Study team members are available to answer any questions you may have regarding research participation.

  • Evaluation of an Imaging Biomarker in Children and Young Adults with Aortopathy

    Researchers at Texas Children’s Hospital and Baylor College of Medicine are doing a study entitled “Evaluation of an Imaging Biomarker in Children and Young Adults.” These investigators will measure and observe an imaging biomarker overtime which may help predict risk of dilation and changes in the aorta.

    You can participate in the study if you:

    • Have Loeys-Dietz Syndrome or vascular Ehlers Danlos
    • Have undergone at least 1 either MRA or CTA that is available for review, AND that study was performed younger than age 50 years

    Participation involves:

    • About 2-3 hours of study procedures at Texas Children’s Hospital.
    • A blood test (taking around 1 tablespoon of blood)
    • An EndoPAT Test (a blood pressure cuff will be inflated on your arm for 5 minutes and then released to measure how well the lining of your blood vessels widen and narrow)
    • A Tonometry (measures pulse at your neck and groin to see how long it takes to travel from your heart to the leg)
    • A consult to confirm your eligibility
    • An echocardiogram of your heart and blood vessels
    • Follow-up visits every two years to complete a 10-year follow-up period
    • Alternatively, patients can enroll without the study visit and just have medical records review

    Benefits:

    • Your participation may help improve evidence based clinical guidelines for the management of different aortopathies.
    • $13 compensation for parking for those who participate in person will be included in your participation.

    To learn more, contact contact Sara Stephens, sxsteph1@texaschildrens.orgor 832-826-5613.

  • Thoracic Aortic Aneurysm and Dissection Study

    Doctors and scientists have only identified about 25 percent of the genes that cause aortic aneurysms and acute aortic dissections that are inherited in families. Studies are now looking at the role of genetics in patients who have had an aortic dissection, with or without a family history.

    Dianna Milewicz, MD, PhD, Director of the John Ritter Research Program in Aortic and Vascular Diseases at the University of Texas Health Science Center in Houston, is an internationally recognized expert in the genetics of aortic and vascular diseases. She is working with a team of clinicians, scientists, and genetic counselors in a number of ongoing research studies. These research studies aim to learn more about the genes that predispose people to thoracic aortic aneurysms and acute aortic dissections. Further identification of the genes that cause people to have these conditions will increase our ability to identify who is at risk and provide information on how to better diagnose and manage aortic and vascular diseases.

    If you have been diagnosed with a thoracic aortic aneurysm or dissection, or have a family member with this condition, and no one in your family has been diagnosed with Marfan syndrome, Loeys-Dietz syndrome, or Ehlers-Danlos syndrome, please consider taking part in this research study.

    To learn more about the research and how to enroll, please contact the genetic counselor involved in the study at info@johnritterresearchprogram.org. The genetic counselor will explain the study to you, review your family history, and help you enroll in the research study for which you qualify.

  • Genetic Testing Research Study

    The Genomic Services Research Program (GSRP) is a study of people with “secondary results” from genetic testing. Secondary results are unexpected. They are not related to the reason the person had the genetic test but are shared because they may be very important to the person’s health. Most secondary results have to do with high risks for health problems that can be treated or prevented. Many of these results are related to cancer risk and heart conditions. If you think you have received a secondary result, you may be eligible to join this study.

    The purpose of this study is to learn about how people react to their secondary result and the actions they take after learning this information. If you or a member of your family have been given a secondary result, please consider partnering with us on this research. Together we hope to understand the health impacts of secondary results on you and your family and discover ways to better support people like you.

    What is involved in for people who join?

    If you join the study, the first phase is a survey and phone interview. We will ask you about any changes you made to your healthcare based on the result. We will also ask if there were recommendations you did not follow and why. Finally, we will ask questions about sharing the result with your family members. Following the interview you may be invited to the second phase of the study, which could include extra testing for you and/or your family members at the NIH or in your area. Participating in this study and having testing done at the NIH is free. If we ask you to come to the NIH, and you live in the United States, we will pay for your travel and a hotel.

    Eligibility:
    • Must speak English or Spanish
    • Must have received a genetic testing result related to cancer risk or heart disease even though they were not having genetic testing to get information about this condition.

    For more information, please visit: https://www.genome.gov/Current-NHGRI-Clinical-Studies/Genomic-Services-Research-Program

Research Study FAQs

A research study is a way that scientists and doctors find answers to difficult scientific or health questions that identify better ways to diagnose, treat, or cure a disease.

  • Why should I participate in a research study?

    Participation in a research study helps to:

    • Find treatments for existing diseases to improve the health of both children and adults.
    • Identify the best dose of medicines to prevent harmful effects or under-treatment.
  • Will being in a study help me or my child?

    It is very important to understand that research is conducted to gain information about a disease, condition, drug, or treatment that will benefit people in the future. Although, your family might not benefit from the results of the study, your participation will certainly help the greater community affected with the disorder, including future generations of your family.

  • What are the benefits of participating in a study?

    There are several benefits to participating in a research study. These include:

    • Researchers test new drugs and treatments because they have reason to believe they might work better or be safer than the standard care. In a study, you or your child may have access to a treatment that is not available yet. If the drug or treatment is found to be helpful, you or your child may be among the first to benefit.
    • Enrolling in a study may give you or your child a chance to see extra doctors or find out more facts about the medical condition. A study may connect you with other families going through the same medical challenges that you are experiencing.
    • A study may offer closer monitoring or additional testing for you or your child, which may not be part of regular care. Sometimes a study asks patients to keep a diary or have more frequent medical exams. Everyone in a study is monitored closely
  • What should I know before making my decision?

    Choosing to participate in a research study is an important personal decision. Here is some information to help you make that decision.

    The government has strict guidelines and safeguards to protect people who choose to participate in research studies. Each study that uses human subjects must be approved and monitored by the Institutional Review Board (IRB) of the institution where the research is to be conducted. The IRB’s job is to make sure the risks are as low as possible, the studies are worth any potential risks, and that these risks and benefits are explained in a simple and clear manner for the participants to make an informed decision. The Marfan Foundation requires that a study have IRB approval before we tell the Marfan syndrome and related disorders community about it.

    Before you can enroll in a study, you will be asked to sign an “informed consent.” “Informed consent” is the process of learning the key facts about a study before you decide whether or not to participate.

    These facts include:

    • Why the research is being done?
    • What the researchers want to accomplish?
    • What will be done during the study and for how long?
    • What risks are involved in the study?
    • What benefits can be expected from the study?
    • Can I decline participation in the study at any time?

    If you wish to participate in a study, the research staff will give you informed consent documents that describe the study and its guidelines. You may want to discuss the consent documents with your friends and family members. In addition, you should ask the research team any questions you have before you make a decision, during the study, and after the study.

    Some other questions you might want to ask are:

    • Will I benefit from the results of this study or will others?
    • Will I have access to the results of this study?
    • Will my samples or records be destroyed or returned in a reasonable amount of time?
    • Are there any inconveniences such as expenses, time, and medications associated with the study?
    • Who will have access to my medical information?
    • Is this study suitable for children?
    • Is there a written guarantee of privacy?
    • Will there be pain – either physical or emotional – associated with the study?
    • Who is sponsoring the study?
    • Is this study repetitive?

    Plan ahead and write down the questions you want to ask. You should not incur any expenses due to participation in a study. Participating in a research study does not entitle you to free medical care from the research investigators unless explicitly stated in the consent form. If you decide to participate, always obtain a copy of your signed consent form.