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.
Comparing Perspectives of Parents of Affected Children: Inherited vs. De Novo Marfan Syndrome
Tiffiney R. Hartman, Dr. Staci Kallish, and the Inherited Connective Tissue Disorders clinic at the Children’s Hospital of Philadelphia (CHOP) are conducting a research study on the perspectives of parents of children with Marfan syndrome (MFS). Individuals over 18 years of age who are the parent of a child diagnosed with MFS may be eligible to participate in the study. All parents of affected children may fill out individual surveys.
Participation in the study consists of filling out an online 30-minute survey and an option for a 45-minute follow up interview. Individuals interested in participating in the study should click this link to complete the survey.
Breanna Lima Martinez, a genetic counseling student at the University of Pennsylvania, is coordinating this study. Questions should be directed to email@example.com.
Experiences of Patients with Vascular Connective Tissue Disorders and Pursuing Surrogacy
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 firstname.lastname@example.org.
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
- 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.
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 email@example.com.
Multisystemic Manifestations in Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders
The Norris Lab at MUSC is conducting an anonymous, online survey of the Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). The aim of the survey is to gain a comprehensive clinical overview of EDS and HSD.
The survey should take approximately 30 minutes to complete and includes questions pertaining to demographics, medical history, and the patient experience. Those at least 18 years old with a diagnosis of EDS (all subtypes) or HSD are eligible to participate. The results of this study may help researchers and medical professionals better understand these conditions in the future.
To participate in the study, visit https://redcap.link/EDSHSDsurvey
If you have any questions about this research or this survey, please contact Victoria Daylor (Study Coordinator, The Norris Lab) at EDSHSDsurvey@musc.edu.
Economic Impact of Ehlers-Danlos Syndromes: Patient Perspective
Researchers at Penn State College of Medicine are interested in better understanding the economic impact of having Ehlers-Danlos syndromes (EDS) or hypermobility spectrum disorder (HSD).
Individuals who have EDS or HSD — or who have a family member with EDS or HSD — are invited to complete an anonymous online survey questionnaire. The aggregate results will be published in a peer-reviewed medical journal and made available to guide health services organization and policy.
Individuals must be 18 years of age or older and live in the United States to participate.
The survey questionnaire asks about approximate expenses for one calendar year: 2022. It will be helpful to gather financial expenses before beginning (such as medical bills, itemized tax return).
The estimated time to complete this questionnaire is 30 minutes. At any time, participants can save their responses and complete the questionnaire at a later time.
If one decides to fill out the survey, answering each question is completely voluntary. One may choose to stop at any time and may choose to skip questions they are not comfortable answering. This survey is voluntary and completely anonymous. Patients may withdraw before submitting the survey at any time. Patients who submit the survey voluntarily agree and give consent to participation in this research study.
Questions may be forwarded to the principal investigator of this study, Dr. Jane Schubart at: firstname.lastname@example.org.
Link to the survey: https://redcap.ctsi.psu.edu/surveys/?s=8DNJEWFWP44R7XJL
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 email@example.com.
Impact of Skin Manifestations of Marfan Syndrome on Patients of Different Genders, Ethnicities, and Skin Color
This announcement is regarding voluntary and anonymous participation in a research study at Michigan State University College of Osteopathic Medicine (MSUCOM) regarding the impact of skin manifestations of Marfan syndrome on patients of different genders, ethnicities, and skin color.
The purpose of the study is to understand how skin findings associated with Marfan syndrome, such as stretch marks, may affect the psychological, emotional, and social well beings of patients who have them.
The link to the online Qualtrics survey is below and takes approximately 3-5 minutes to complete.
If one decides to fill out the survey, answering each question is completely voluntary. One may choose to stop at any time and may choose to skip questions they are not comfortable answering. Again, this survey is voluntary and completely anonymous, and no personnel from MSUCOM will have access to any patient medical records or tissue samples. Patients may withdraw before submitting the survey at any time. Patients who submit the survey voluntarily agree and give consent to participation in this research study.
Patients must be 18 years of age or older to participate.
Questions may be forwarded to the principal investigator of this study, Dr. Raquel Ritchie, at firstname.lastname@example.org.
Cardio-Ocular Network Connective Tissue (CONECT) Platform
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 email@example.com.
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.
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.
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 firstname.lastname@example.org.
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.
Thoracic Aortic Aneurysm and Dissection Study
Doctors and scientists have only identified about 20% 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 but do not have 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 JRRP.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.
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.
• 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.