Marfan Syndrome and Related Conditions International Patient Registry
The Marfan Foundation’s first-ever Marfan Syndrome and Related Conditions International Patient Registry is now available. Individuals with VEDS can join this registry by subscribing to Backpack Health, a free healthcare management tool available, and uploading their medical information. Upon user consent, data uploaded to the app will be de-identified and entered into the registry. The registry, which has an initial goal of collecting data on 6,000 individuals with Marfan, VEDS, Loeys Dietz, and other related conditions, will be accessible to researchers, who can analyze the de-identified aggregated data, leading to increased understanding of these conditions and enhanced diagnosis and treatment.
If you have any questions, please contact Josephine Grima, PhD, Chief Science Officer, The Marfan Foundation, firstname.lastname@example.org.
Vascular Ehlers-Danlos Syndrome (vEDS) Research Collaborative Study
The vEDS Collaborative is dedicated to supporting the Vascular Ehlers-Danlos syndrome 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 email@example.com.
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:
•Heart valve replacement surgery
•VEDS, 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, VEDS 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 firstname.lastname@example.org 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 Syndrome
•Have undergone at least 1 either MRA or CTA that is available for review, AND that study was performed younger than age 50 years
•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
•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, email@example.com, or 832-826-5613
Pregnancy in Connective Tissue Disorders Study
What: Dr. Melissa Russo, Dr. Jennifer Pardo Habashi, and their team at Johns Hopkins University are interested in obtaining more information on pregnancy outcomes in women with connective tissue disorders, including Vascular Ehlers Danlos Syndrome (VEDS), Marfan syndrome and Loeys-Dietz syndrome. Their project, entitled “Pregnancy in Connective Tissue Disorders,” features a questionnaire about pregnancy outcomes in women with these syndromes and their cardiovascular (heart-related) complications.
Who: Women with Marfan syndrome, Loeys-Dietz syndrome, or VEDS who have had pregnancies, as well as family members of women with Marfan syndrome, Loeys-Dietz, or VEDS who may have passed away during or post-pregnancy. It’s important to have information from women and family members with a range of experiences, from successful to complicated pregnancies.
The questionnaire: The questions ask how you got your diagnosis of a connective tissue disorder, your medications and imaging, and the management of the pregnancy in relation to your connective tissue disorder. The survey will take between 20-60 minutes depending on the number of pregnancies. It may be appropriate to have your medical history available while filling out the survey since you cannot save the survey for completion at another time.
Why: Your participation will help us learn about pregnancy in women with these syndromes, an area in which there is still very little information in the medical literature.
How: Here is the link to complete the “Pregnancy in Connective Tissue Disorders” Questionnaire: http://www.surveymonkey.com/s/CTDpregnancy. By completing and submitting the questionnaire, you are consenting to participating in the study. Additionally, if you are not a patient at Johns Hopkins, we will request that you provide the research team with copies of your medical records that verify your diagnosis and summary of medical care if you had a cardiovascular or obstetrical complication during a pregnancy. If you have questions and want to talk with a study team member prior to filling out the survey, please email (CTDpregnancy@jhmi.edu).
Thank you for your consideration and support in trying to make further inroads into the understanding of connective tissue disorders. JHM eIRB Study Number: NA_00086443
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 firstname.lastname@example.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.
Learn more about participating in a study.
See current information on treatment and management of VEDS.