Genetic Mutations Causing PR Clinical Trial
— RAY-GENEOfficial title:
Prospective Multicenter Study on the Identification of Genetic Abnormalities Predisposing to Vasospasm From a Privileged Model: the Primary Raynaud's Phenomenon
| Verified date | June 2020 |
| Source | Nantes University Hospital |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | |
| Study type | Interventional |
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).
| Status | Completed |
| Enrollment | 258 |
| Est. completion date | June 10, 2020 |
| Est. primary completion date | June 10, 2020 |
| Accepts healthy volunteers | Accepts Healthy Volunteers |
| Gender | All |
| Age group | 18 Years and older |
| Eligibility |
Inclusion criteria: - Major Subject (age = 18 years) - Index case with all the diagnostic criteria for primary Raynaud phenomenon, according to current recommendations OR Related index case (relatives' patients) with or without a primary Raynaud phenomenon. - Written consent to participate in the study - Written consent to participate in the collection of biological samples Exclusion criteria: - Subjects who have expressed their inability or refusal to sign an informed consent, - Index case with a secondary Raynaud phenomenon (suspected by clinical examination and confirmed by capillaroscopy and laboratory tests: antinuclear antibody, abnormalities of capillaroscopy mégacapillaire dystrophy or other major deviation). (Criterion not applicable to related parties, i.e. family members of Index cases) - Pregnant Woman. |
| Country | Name | City | State |
|---|---|---|---|
| France | CHU Angers - Service d'Explorations vasculaires | Angers | |
| France | CHRU HOPITAL CAVALE BLANCHE - Service de Médecine vasculaire | Brest | |
| France | CHD La Roche sur Yon - Service Angéiologie | La Roche sur Yon | |
| France | CHU de NANTES - Service de Médecine Interne | Nantes | |
| France | C.H.R. HOPITAL SUD - Service de Médecine interne | Rennes | |
| France | Ch Saint Nazaire | Saint Nazaire |
| Lead Sponsor | Collaborator |
|---|---|
| Nantes University Hospital |
France,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | To identify number of genes involved in vasospasm of primary Raynaud's phenomenon (RP) and determine the genetic cause of primary RP | Patients with primary Raynaud's phenomenon and their relatives will be recruited to establish familial forms of Raynaud's phenomenon. This will allow perform genetic analysis using new approaches to genetic broadband (exome sequencing analysis + linkage analysis). This approach will allow specify which chromosomal regions are shared only by affected individuals, and identify new candidate genes | 36 months | |
| Secondary | To determine number of phenotypes associated to genotype of primary Raynaud's phenomenon | Based on the identified genes in different families, a descriptive analysis will allow associate them with different RP phenotypes (isolated RP or RP associated with migraines, angina or hypertension) and risk factors. | 36 months |