Marfan Syndrome and Related Disorders International Patient Registry
The Marfan Foundation’s first-ever Marfan Syndrome and Related Disorders International Patient Registry is now available for individuals with Marfan syndrome and related disorders to upload their medical information. To participate, one must first subscribe to Backpack Health PRO, a healthcare management tool available to the Marfan and related disorders community at no cost through a unique partnership. 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 and related disorders, 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, email@example.com.
10,000 Healthy Steps!
Researchers at Stanford University would like to motivate patients with Marfan syndrome to reach 10,000 steps each day to understand how this might improve their health. The study will provide coaching and support to reach the goal of 10,000 steps each day for 6 months. Families are welcome to participate, too!
Who can participate? Patients with Marfan syndrome between the ages of 8-19 years old who have not undergone aortic surgery are eligible to participate. Your primary cardiologist must provide initial approval for participation and this approval must be maintained throughout the 6 months of your participation.
What will I do if I participate in the study? The researchers will spend 20 minutes with you to describe the study and obtain your consent. If you consent to participating in the study, they will try to schedule your first study visit where they will perform the following tests:
- Echocardiography: A test that uses sound waves to examine your heart.
- Tonometry: A tiny pen like-probe will record the pulse in your arm, neck, and leg by applying very light pressure on the skin.
- EndoPAT: Records changes in blood flow with two tiny cuffs hugging your fingers. A blood pressure cuff will be inflated on one upper arm for five minutes. Your arm might fall asleep while the cuff is inflated. This test is performed in the supine position and lasts 20 minutes.
- Blood draw: Less than 1 tablespoon of blood will be drawn.
- Surveys about self-perception of exercise, and study feedback.
- A watch that measures your activity over 7 days.
In total, they would ask you to visit them for two visits, each lasting 3-4 hours: at study start and at 6 months. Throughout the 6 months, they will ask you to wear a Garmin device daily. This will have to be charged and synced with a personal computer, tablet, or smartphone weekly. They will send you text messages, emails, and/or call you each week to remind you. They will also ask to send you text messages and/or emails several times each week to motivate you to reach your goal of 10,000 steps.
Will I get anything for participating? Stanford will provide you with a Garmin device and charging cable. You may keep this device even after finishing the 6 months of the study. You will also receive a $75 gift card at each of the two study visits ($150 in total). For each study visit at the hospital, you will receive free parking at LPCH.
You will continue with your usual visit with your physician today regardless of whether or not you participate in the study. If you would like to participate, please contact Angela Chen (study coordinator) at 650-307-3595 or firstname.lastname@example.org. You may also reach Dr. Seda Tierney (principal investigator) at email@example.com. For general information about participants rights, contact 1-866-680-2906.
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 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 Marfan Syndrome, Loeys-Dietz Syndrome, Turner Syndrome, familial thoracic aortic aneurysm and dissection, Shprintzen-Goldberg syndrome, bicuspid aortic valve, coarctation of the aorta, or other thoracic aortic dilation or dissection not related to trauma
- 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 Shelley Andreas, email@example.com, or 832-826-2064
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 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 vascular Ehelers Danlos syndrome (vEDS) who have had pregnancies, as well as family members of women with Marfan syndrome, Loeys-Dietz, or vascular Ehlers Danlos syndrome (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
Research on Post-Operative Outcomes of ACL Reconstruction
The Department of Orthopaedic Surgery at Johns Hopkins Hospital is currently investigating post-operative outcomes of anterior cruciate ligament (ACL) reconstruction in people with Marfan syndrome. More specifically, we are interested in studying rates of ACL re-rupture, results of laxity testing, lengths of rehabilitation times, and past/current functional status.
Very little attention has been given to this type of surgery and its outcomes in people with Marfan syndrome. As ACL repair is a relatively common procedure, this study will help inform our treatment approach for this injury and the practices that best lead to successful rehabilitation and mobility following surgery. If you have suffered an ACL injury requiring surgery once or multiple times, please consider being part of this study.
- At least 18 years old
- Undergone at least one ACL repair, regardless of date of surgery or type of reconstruction
This study will require participants to either send us relevant medical and surgical records or allow us to retrieve them from the healthcare institution, as well as complete two online questionnaires that collectively take less than 25 minutes to complete.
To obtain more information about this clinical study or to enroll, please contact Brian Sullivan at firstname.lastname@example.org.
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 email@example.com. 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.