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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

258 participants

Study Classification

INTERVENTIONAL

Study Start Date

2014-10-13

Study Completion Date

2020-06-10

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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).

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Primary Premature Ejaculation Genetics

NCT02109302

Premature Ejaculation

COMPLETED NA

Biocollection on the Familial Forms of Intracranial Aneurysm

NCT02848495

Intracranial Aneurysm

COMPLETED

Genetic Risk Factors of the Sneddon Syndrome

NCT06850519

Sneddon Syndrome

COMPLETED

Genetic of SportS Induced Endofibrotic Remodeling

NCT02704260

Genetic Syndrome

COMPLETED NA

Nephronophthisis : Clinical and Genetic Study

NCT01022957

Nephronophthisis

COMPLETED NA

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

In all participating centers, there will be a recruitment of index cases without family screening to form a series of cases that will validate the results obtained in family forms.

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.

In all centers, relatives of included Index cases, agreeing to participate in this research, will be enrolled and followed.

Nantes University Hospital is the only center to perform a cold test (for reasons of availability of the technique) but this test will be reserved for patients whose diagnosis of primary Raynaud's phenomenon would be doubtful. Exposed identified relatives, agreeing to participate in this research, will all be included and followed in their enrollment center.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

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

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

OTHER

Blinding Strategy

NONE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Patient with Raynaud's phenomenon

Group Type EXPERIMENTAL

Demonstration of genetic mutations causing Raynaud's phenomenon

Intervention Type GENETIC

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.

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

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.

Intervention Type GENETIC

Other Intervention Names

Discover alternative or legacy names that may be used to describe the listed interventions across different sources.

Recruitment of familial forms of Raynaud phenomenon (patients with primary Raynaud phenomenon and their relatives) to perform genetic analysis of exome sequencing type combined with an analysis of family bonding.

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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.

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes