ARCADIA is a national registry designed to document phenotypic and genetic traits in patients
with renal and/or cervical artery fibromuscular dysplasia (FMD).
FMD is a group of arterial diseases that most commonly involve renal and carotid arteries.
Patients with FMD may present with renovascular hypertension and/or with cerebrovascular
symptoms. Angiographic classification includes the multifocal type and the focal type. FMD
may affect one or more vascular beds and progress to more severe stenosis and to renal or
cerebrovascular complications. FMD may be familial (OMIM #135580).
Our main objective is to create a FMD registry that will collect standardized information
from all consenting patients diagnosed with the condition in 16 participating centers. This
registry, along with a collection of leukocyte DNA, will constitute a resource for further
clinical research on FMD. The first application will be 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. The second application will be a case-control study to identify
susceptibility genes for FMD.
Patients are eligible in the registry if: (a) they have renal or cervical artery FMD with
either multifocal or focal lesions at CT-angiography, MR-angiography, or intra-arterial
angiography; (b) they give informed consent to leukocyte DNA analysis and to the collection
of bioclinical and morphologic information. Phenotypic assessment will be performed in
accordance with current recommendations and best clinical practice.
Given the multicenter nature of the study and the recruitment capacity of each centre,
enrollment of 500 FMD cases is expected over 5 years. This number will 1) allow an accurate
estimation of the frequency of multi-site FMD: when the sample size is 500, a two-sided 95%
confidence interval will extend 0.035 from the observed proportion for an expected proportion
of 0.20 based on a previous report and from our unpublished data. 2) In addition to a
collection of 400 renal FMD already collected at HEGP, give sufficient power for a
genome-wide association study seeking for susceptibility genes