Prospective Multicenter Study on the Identification of Genetic Abnormalities Predisposing to Vasospasm From a Privileged Model: the Primary Raynaud's Phenomenon

Summary

Vasospasm is a transient contraction causing a decrease in caliber of a vessel and thus a decrease in vascularization in a vascular territory leading to suffering of tissue in the sector concerned. Vasospasm-related diseases have different clinical presentations such as migraine, spastic angina, hypertension related to vasospasm or primary Raynaud's phenomenon (RP). These diseases have few therapeutic methods due to poorly understood pathophysiology. For migraine and angina, the vascular exploration is problematic unlike for primary Raynaud's phenomenon (RP).

Primary Raynaud's phenomenon (RP) is a common peripheral vascular disease to cold with an estimated prevalence between 5-9 % of the general population. It is the expression of an extreme vasospasm microcirculation of the extremities linked to hypersensitivity to cold and that is clinically expressed by the occurrence of syncope stages where the fingers are anesthetized and white, followed by a stage with hyperemic restaining .

The objective of our study is to identify new metabolic pathways involved in vasospasm in order to consider new specific treatments, currently lacking.

The identification of these pathways will be made by the detection of genetic abnormalities causing vasospasm in Raynaud's phenomenon. This disease is a perfectly appropriate model to study vasospasm by its high frequency in the population, its hereditary nature and simple diagnosis. The powerful current genetic strategies will be applied to this model (exome sequencing combined to family connection analysis).

Conditions

• Primary Raynaud's Phenomenon (PR)
• Genetic Mutations Causing PR
• Study of Patients and Their Relatives (With or Without Primary PR)

Interventions

GENETIC

Demonstration of genetic mutations causing Raynaud's phenomenon

Such an approach allows to highlight chromosomal regions shared only by individuals within a family and thus highlight the genetic mutations causing the Raynaud phenomenon . The ultimate goal is to identify new pathways involved in vasospasm. Patients with primary Raynaud phenomenon will be identified during a consultation of vascular medicine and internal medicine in one of the centers participating to the study. Those patients with a primary PR will be considered as Index cases. The investigators will conduct genealogical trees of index cases to identify families, whose number of healthy individuals and those with relevant PR makes sense for a family genetic study, i.e. a genetically informative family.

Sponsors & Collaborators

• Nantes University Hospital

  lead OTHER

Principal Investigators

• Marc-Antoine Pistorius, Prof · University Hospital of Nantes

• Marc-Antoine Pistorius, Prof · University Hospital of Nantes

• Luc Bressollette, Prof · University Hospital of Brest

• Patrick Jégo, Prof · University Hospital of Rennes

• Samir Henni, Dr · University Hospital of Angers

• Jean-Manuel Kubina, Dr · Hospital of La Roche/Yon

• Pierre Plissonneau Duquene, Dr · Hospital of St Nazaire

Study Design

Allocation

NA

Purpose

OTHER

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2014-10-13

Primary Completion

2020-06-10

Completion

2020-06-10

Countries

• France

Study Locations