STUDY DESIGN AND DETAILS
What is the Vascular Ehlers-Danlos Syndrome (vEDS) Research Collaborative Study?
This is a natural history study to define the contribution of known vEDS gene mutations to vEDS complications and outcomes. This will be achieved by the following:
Describe the genotype-phenotype correlation between vEDS gene mutations and complications. These complications include aortic and arterial pathology (e.g. fistulas, aneurysms and dissections, vein and artery clots), gastrointestinal complications (e.g. bowel perforation, bowel obstruction), pulmonary complications (e.g. pneumothorax), uterine rupture, and other complications related to vEDS.
To evaluate long -term outcomes of medical and surgical management of the vEDs complications and correlate the outcomes to the underlying genetic mutations.
To understand the additional modifiers that can lead to complications such as environmental factors (e.g. diet and exercise), medical management factors, and surgical interventions factors.
This work will lead to
Creating treatment guidelines based on the underlying gene mutation
Discovering and/or create novel medical practices, diagnostic tools, protective therapies and medicines for the future that will prevent and/or cure the complications of vEDS.
Will I receive any medical treatment or individual results?
You will not receive any medical treatment or genetic results by participating in this study. There are no plans to release information to participants. This study will not generate individual results that will benefit patients.