Primary Raynaud's Phenomenon (PR)RAY-GENENCT02202291
Prospective Multicenter Study on the Identification of Genetic Abnormalities Predisposing to Vasospasm From a Privileged Model: the Primary Raynaud's Phenomenon
A study testing Demonstration of genetic mutations causing Raynaud's phenomenon in people with Primary Raynaud's Phenomenon (PR) and Genetic Mutations Causing PR, run by Nantes University Hospital at 6 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Primary Raynaud's Phenomenon (PR), Genetic Mutations Causing PR, Study of Patients and Their Relatives (With or Without Primary PR)
- What is being tested?
- Demonstration of genetic mutations causing Raynaud's phenomenon
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 258 participants
- Where
- 6 sitesFrance
- Study dates
- 13 Oct 2014to 10 Jun 2020
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
6 sites in 1 country.
6 sites in 1 country
France6 sites
CHU Angers - Service d'Explorations vasculaires
Angers, 49033 Angers Cedex 01
CHRU HOPITAL CAVALE BLANCHE - Service de Médecine vasculaire
Brest, 29609 Brest Cedex 2
CHD La Roche sur Yon - Service Angéiologie
La Roche-sur-Yon, 85925 La Roche/Yon Cedex 9
CHU de NANTES - Service de Médecine Interne
Nantes, 44000
C.H.R. HOPITAL SUD - Service de Médecine interne
Rennes, 35203 Rennes Cedex 2
Ch Saint Nazaire
Saint-Nazaire, 44600
About this study
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 .
Read more
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).
Read the detailed description
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
- Primary Raynaud's Phenomenon (PR), Genetic Mutations Causing PR, Study of Patients and Their Relatives (With or Without Primary PR)
- Being tested
- Demonstration of genetic mutations causing Raynaud's phenomenon
- Keywords
- Raynaud's phenomenon, Vasospasm, Genetics
- Medical subject headings
- Raynaud Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Demonstration of genetic mutations causing Raynaud's phenomenonGenetic
Also called 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.
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.
| Study group | Role | What they receive |
|---|---|---|
| Patient with Raynaud's phenomenon | Experimental | Not described Receives: Genetic: Demonstration of genetic mutations causing Raynaud's phenomenon |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 36 months
Secondary outcomes (1)
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.
Measured: 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jul 2014 (estimated)
- Study start13 Oct 2014
- Primary completion10 Jun 2020
- Study completion10 Jun 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary Raynaud's Phenomenon (PR)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 258 participants (actual)
Sponsor and investigators
- Lead sponsor
- Nantes University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Marc-Antoine Pistorius, Prof, Study director, University Hospital of NantesMarc-Antoine Pistorius, Prof, Principal investigator, University Hospital of NantesLuc Bressollette, Prof, Principal investigator, University Hospital of BrestPatrick Jégo, Prof, Principal investigator, University Hospital of RennesSamir Henni, Dr, Principal investigator, University Hospital of AngersJean-Manuel Kubina, Dr, Principal investigator, Hospital of La Roche/YonPierre Plissonneau Duquene, Dr, Principal investigator, Hospital of St Nazaire
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02202291
- Sponsor's protocol ID
- RC14_0086
- Other IDs
- 2014-A00470-47
- Acronym
- RAY-GENE
- Status last verified
- Jun 2020
- First submitted
- 15 Jul 2014
- Last updated
- 24 Jun 2020
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Multicenter Study on the Identification of Genetic Abnormalities Predisposing to Vasospasm From a Privileged Model: the Primary Raynaud's Phenomenon
- ClinicalTrials.gov ID
- NCT02202291
- Acronym / sponsor ID
- RAY-GENE / RC14_0086
- Conditions
- Primary Raynaud's Phenomenon (PR), Genetic Mutations Causing PR, Study of Patients and Their Relatives (With or Without Primary PR)
- Keywords
- Raynaud's phenomenon, Vasospasm, Genetics
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 258 participants (actual)
- Lead sponsor
- Nantes University HospitalUniversity, hospital or other
- Study start
- 13 Oct 2014 (actual)
- Primary completion
- 10 Jun 2020 (actual)
- Study completion
- 10 Jun 2020 (actual)
- First posted
- 29 Jul 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Detailed description
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.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patient with Raynaud's phenomenon | Experimental | Genetic: Demonstration of genetic mutations causing Raynaud's phenomenon |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Demonstration of genetic mutations causing Raynaud's phenomenonAlso: 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.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. | Genetic | Patient with Raynaud's phenomenon |
Primary outcome
To identify number of genes involved in vasospasm of primary Raynaud's phenomenon (RP) and determine the genetic cause of primary RP
Time frame: 36 months
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
1 secondary outcome
To determine number of phenotypes associated to genotype of primary Raynaud's phenomenon
Time frame: 36 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jun 2020.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Marc-Antoine Pistorius, Prof study director
University Hospital of Nantes
Marc-Antoine Pistorius, Prof principal investigator
University Hospital of Nantes
Luc Bressollette, Prof principal investigator
University Hospital of Brest
6 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Demonstration of genetic mutations causing Raynaud's phenomenon in people with Primary Raynaud's Phenomenon (PR) and Genetic Mutations Causing PR, run by Nantes University Hospital at 6 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Jun 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To identify number of genes involved in vasospasm of primary Raynaud's phenomenon (RP) and determine the genetic cause of primary RP (time frame: 36 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Jun 2020.