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.