Research Studies

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. We hope to finish these
studies by the end of this year (2011)

 

 In collaboration with the Cleveland Clinic and Mayo Clinic, a research study is being conducted to:

  1. 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.
  2. Investigate the prevalence of traditional cardiovascular risk factors in individuals and family members with FMD.

For anyone attending the FMDSA Annual Meeting in Cleveland we would like to invite you to participate in this study. Dr. Kullo, the primary investigator, from the Mayo Clinic will be speaking at the meeting and will provide an overview of the study. 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, and collecting your vital signs and a small sample of your blood. Research personnel from the Cleveland Clinic will be available throughout the entire meeting to conduct the study.

If you wish to obtain more information about this study please feel free to contact Drs. Kullo or Gornik at: kullo.iftikhar@mayo.edu or gornikh@ccf.org.     To view the Mayo Clinic information brochure, please click here

 

NIA Clinical Study

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.

Children and adults with a known or suspected inherited connective tissue disorder (Marfan, Ehlers-Danlos or Stickler syndrome, or other closely related disorders) and their family members may be eligible for this study.  Even though not stated, FMD patients are being considered/accepted for this study.  For more information click here.

Orphanet

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 specialised clinics, medical laboratories, ongoing research and patient organisations in their country. For information on research, clinical trials and resources in other countries, please click here