Other FMD Related Research Studies
University of Michigan
Santhi K. Ganesh, MD and colleagues at the University of Michigan are conducting research on the genetic basis of arterial dysplasia. If you agree to participate we will gather pertinent information from you or your medical records, and you will be asked to provide a blood sample. We are also interested to know if any of your family members have been affected by FMD, and we may ask for your assistance in contacting family members who may or may not have FMD for participation in this study. Details of the study may be obtained by emailing Dr. Ganesh at email@example.com. For more information, click here.
Mount Sinai Heart Center for Fibromuscular Dysplasia Care and Research
The prevalence, cause, prognosis, and optimal treatment of fibromuscular dysplasia (FMD) is not known. Despite an improved clinical understanding of the disease, through initiatives such as the United States Registry for FMD, there has been little progress in understanding the biologic cause of FMD since its first description in 1938. Data from the registry suggests that many patients had subtle manifestations of FMD for years before diagnosis and treatment.
There are a number of similar features that occur in family members of patients with FMD. This suggests that genetics play a significant role in the cause and/or predisposition for developing FMD.
We have created “The Mount Sinai Heart Center for Fibromuscular Disease Care and Research” with the goal of determining the cause and full clinical spectrum of FMD.
Our current research projects are listed below:
“Define-FMD” (Defining the Basis of Fibromuscular Dysplasia) As suggested by the name “Fibromuscular Dysplasia”, it is highly likely that fibroblasts play an important role in the development of FMD. In the “Define-FMD” study, we take a small piece of skin from the upper arm using a punch biopsy under local anesthetic (similar to a dermatologist removing a mole). From this skin, we are able to grow fibroblasts in the laboratory. The accompanying figure shows what fibroblasts look like after they grow in the laboratory. This important study began in early 2013 and we are aiming to collect fibroblasts from up to 200 FMD patients. We also draw a small sample of blood to collect DNA and plasma. The plasma sample allows us to measure the level of different hormones and proteins in the blood, while the DNA gives us the ability to investigate possible genetic causes of FMD, which can be linked back to what we see in the fibroblast cells. This study will also use several other cutting-edge research techniques such as “proteomics” and “bioinformatics” in an effort to provide a better understanding of the cause of FMD. Jason Kovacic, M.D., Ph.D. is leading this part of the FMD research. He is an outstanding scientist and interventional cardiologist and is a faculty member in Mount Sinai Heart. He has a particular interest in cell-based therapies for the treatment of vascular disease. Valentina d’Escamard will play a vital role in his lab for the processing of cellular and blood plasma procedures outlined above.
Characterization of Carotid Artery Plaque in Patients with Fibromuscular Dysplasia by Magnetic Resonance Imaging We have observed that a large number of patients with FMD have what appears to be a “plaque” on the carotid ultrasound. This is unusual since the average age of at FMD diagnosis is about 52 years. Many patients with FMD have no or few cardiovascular risk factors. The aim of this study is to characterize the amount and nature of this material in the carotid arteries in patients with FMD using a high tesla research MRI. Dr. Zahi Fayad is an international expert on MRI and vascular disease and he will be performing the MRI exams. Our goals will be (1) to quantify the amount and composition of plaque (or whatever this material is) from FMD patients as compared to subjects without FMD (2) to identify the cardiovascular disease risk factor profile of FMD subjects versus those without FMD as it relates to the amount of atherosclerosis identified. This study will be restricted to FMD patients with medial fibroplasia (string of beads) who have never smoked. Participants will undergo laboratory testing to assess kidney function prior to MRI imaging, and complete a clinical questionnaire. The MRI exam involves three modalities to assess carotid 3D imaging, plaque components, and plaque vasculature requiring approximately 1.5 – 2 hours per imaging session.
Complete Phenotypic Description of Patients with FMD
We have developed an electronic database for all of our patients with FMD. This is a much more detailed database than we are able to collect in the FMD registry and will allow us to answer a number of questions that have arisen from the information gleaned from the U.S. Registry for FMD. We will follow our patients over time and survey their medical progress, with the goal of learning how FMD behaves clinically over time and prospectively determine the natural history (clinical course) and results of therapy in FMD patients. The major strength of this approach is that we will be able to examine how biologic and genetic aspects of FMD translate into clinical manifestations of FMD.
United States Registry for Fibromuscular Dysplasia – Enrollment Site
The Mount Sinai Medical Center in New York, NY is one of thirteen enrollment centers in the nation. Dr. Jeffrey W. Olin is the principal investigator for this study and we will continue to work hard to enter all new patients into the registry.
If you are interested in learning more about the studies outlined above, please contact Drs. Jeffrey W. Olin and Daniella Kadian-Dodov at the Mount Sinai Medical Center (emails listed below).
Jeffrey W. Olin, DO firstname.lastname@example.org
Daniella Kadian-Dodov, MD email@example.com
NACAD Registry - Primary Investigator, Dr Jackie Saw
The Non-Atherosclerotic Coronary Artery Disease (NACAD) Registry is an ongoing patient registry approved by the UBC research ethics board for patients with non-atherosclerotic forms of coronary artery disease. Patients with previously diagnosed SCAD are eligible for this study.
(1) To evaluate the long-term clinical outcome (recurrent cardiac events, hospitalization, revascularization, and symptoms) of patients with NACAD.
(2) To evaluate the long-term outcome of the dominant subsets of patients with NACAD, in particular, SCAD and coronary FMD.
Patients who were previously identified to have NACAD on coronary angiography. Any NACAD patients who presented with ACS or stable outpatients are eligible. We anticipate that the majority of patients would be women.
For inclusion in the NACAD Registry please contact research coordinator Dr. Andrew Starovoytov (firstname.lastname@example.org) or principal investigator Dr. Jacqueline Saw (email@example.com).
Dr Saw is also the principal investigator for the Canadian SCAD Study for more information on her research please visit Http://scad.ubc.ca
The Mayo Clinic Spontaneous Coronary Artery Dissection (SCAD) Research Program is part of an innovative multidisciplinary collaborative research and clinical practice initiative formed in 2010. The goal of the program is to advance the understanding of the underlying causes and risk factors for SCAD and develop solutions for optimal diagnosis, treatment and prevention. SCAD is associated with FMD in that we have found a high incidence of FMD and other systemic vascular abnormalities in our SCAD population, and individuals with FMD are at increased risk for SCAD related events, possibly due to coronary artery involvement with FMD.
The Mayo Clinic SCAD Research Program takes a novel approach to patient-initiated rare disease research, utilizing registries, comprehensive review of participant data, genetic analyses, advanced medical imaging and other collaborative studies. The research is based on a novel database registry and a DNA and plasma biobank. This approach, involving research colleagues from across Mayo and at select organizations, has already had an impact on the care of SCAD patients.
Additional information about our current research and can be found at www.mayo.edu/research/scad or you can email or call Jill Boyum, our study coordinator, who can also assist you via MayoSCAD@Mayo.edu or 507-266-3180. For the research trials themselves, you do not need to travel to Mayo in Rochester. We can do most of the study via mail and electronically.
For medical appointments at Mayo Clinic in Rochester, MN for SCAD or FMD related concerns, contact Michelle Schoeppner at 507-538-6857.
Fibromuscular Dysplasia (FMD) Registry in France
We seek partnership with patient organizations. To my knowledge however, there exists no FMD patient association in Europe. This is why I am keen to have contacts with patients who could be interested in a European FMD initiative and would eventually attend our forthcoming FMD meeting (November 8th in Paris).
Written by Pr. Pierre-François Plouin in June 2013
ARCADIA (Assessment of Renal and Cervical Artery DysplasIA) is a French registry designed to document phenotypic and genetic traits in patients with renal and/or cervical artery fibromuscular dysplasia (FMD). PROFILE (PROgression of FIbromuscular LEsions) is a cohort study evaluating the progression of FMD lesions. These studies are coordinated by the hypertension unit and the reference center for rare vascular diseases at Hospital European G Pompidou, Paris, France (http://www.maladiesvasculairesrares.com).
The main objective is to create a National FMD registry to collect standardized information from consenting patients diagnosed with the condition in 16 participating centers. The first application is the assessment of the frequency of multi-site FMD, i.e. the frequency of cervical artery FMD in patients presenting with renal artery FMD and vice-versa (ARCADIA and PROFILE). The second application is the assessment of the incidence and risk factors for progression of FMD lesions (PROFILE). The third application is case-control study to identify susceptibility genes for FMD, including genes that may influence disease progression or be associated with complications.
Patients are eligible if (a) they have renal or cervical artery FMD with either the string-of-beads sign (‘medial’ or multifocal FMD) or focal/tubular lesions (focal FMD) at CT-angiography, MR-angiography, or intra-arterial angiography; (b) they give informed consent to provide leukocyte DNA for analysis and for the collection of pertinent bioclinical and morphologic annotations. In addition to DNA sampling and collection of cross-sectional information, patients who are available and willing to undergo a 3-year follow-up are offered the possibility to enroll in the PROFILE cohort. Phenotypic assessment, follow-up and indications for revascularization comply with current recommendations and best clinical practice. Patient participation lasts one day for ARCADIA, and 3 years for PROFILE.
The natural history of the condition will be better characterized, allowing development of optimal strategies for investigating, monitoring, following-up and treating patients with FMD. The biological and genetic study should help improve understanding of the pathophysiology and genetic determinism of this rare disease and open new possibilities for therapy.
Fibromuscular Dysplasia Biorepository
In collaboration with the Cleveland Clinic and Mayo Clinic, a research study is being conducted to:
Identify genetic factors that may influence susceptibility to certain vascular diseases like FMD so that we can find new ways to its prevention, diagnosis and treatment.
Investigate the prevalence of traditional cardiovascular risk factors in individuals and family members with FMD.
For anyone attending the Annual FMDSA Meeting in Cleveland, we would like to invite you to participate in this study if you have not already done so at the 2010 or 2011 conferences. Any patient with FMD is welcome to participate. First-degree family members of FMD patients (such as parents, siblings, and adult children) may also volunteer to participate if they wish.
If you agree to participate in this study, it will involve giving your consent, completing a medical and FMD questionnaire, obtaining your vital signs, and collecting a sample of your blood.
There will be two opportunities for you to participate in this study:
You may schedule an appointment with research personnel at the Cleveland Clinic during the week of the meeting. You do not need to be a Cleveland Clinic patient to participate in this study or to schedule an appointment with the research staff. To schedule a research appointment, please contact Neil Poria at (216)-444-0334.
Research staff will be available during the FMDSA meeting at the conference’s designated lunch break.
If you wish to obtain more information about this study, please feel free to contact Dr. Heather Gornik at: firstname.lastname@example.org, or Neil Poria at: 216-444-0334.
To view the Mayo Clinic information brochure, please click here.
Update from Marja Wessels, the Netherlands
Dr Marja Wessels (MD, PhD), clinical geneticist, Dr Rob Willemsen (PhD) and Prof J Kros (MD, PhD), pathologist at the Erasmus Medical Center, Rotterdam. The Netherlands are continuing their work on histopathology studies including immunostaining for TGFB pathway components to describe in more detail characteristics of FMD pathology.
NIA Clinical Study- This study has closed, some findings can be found on the research findings page of the website.
The purposes of this study are to identify the genes responsible for inherited connective tissue disorders and learn about the range of medical problems they cause. It will investigate whether specific gene changes cause specific medical problems and will establish diagnostic criteria (signs and symptoms) for the individual syndromes.
Orphanet is led by a European consortium of around 40 countries, coordinated by the French team. National teams are responsible for the collection of information on specialized clinics, medical laboratories, ongoing research and patient organizations in their country. For information on research, clinical trials and resources in other countries, please click here.