- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05793424
Establishment of a CSF Bank for the Development of Biomarkers of Smooth Muscle Cell (SMC) Damage in Monogenic Cerebral Small Vessel Disease (CSF-cSVD)
Establishment of a CSF Bank for the Development of Biomarkers of Smooth Muscle Cell Damage in Monogenic Cerebral Small Vessel Disease CSF-cSVD-biobank -- Constitution d'Une Banque de LCR Pour le développement de Biomarqueurs d'Atteinte Des Cellules Musculaires Lisses Dans Les Pathologies Micro-vasculaires cérébrales monogéniques CSF-cSVD-biobank
The main objective of this research is to obtain biological markers of smooth muscle cells dysfunction or degeneration in cerebral small vessel diseases.
The aim of this research is therefore to build up a biocollection of CSF and blood samples from 1) patients with CADASIL disease (the most common form of cSVD) responsible for an accumulation of the NOTCH3 protein in the microvessel wall, 2) patients with other forms of monogenic cSVD (rarer) which are not responsible for an accumulation of this protein despite the damage to the smooth muscle cells of the vessel wall and 3) control patients without cSVD, collected in the context of care.
This bio-collection will allow the identification and assay of markers testifying to the damage of the smooth muscle cells (SMC) in different types of cSVD of hereditary origin, the first of which will be the soluble NOTCH3 protein.
Study Overview
Status
Intervention / Treatment
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: CHABRIAT Hugues, Pr
- Phone Number: +33 1 49 95 25 93
- Email: hugues.chabriat@aphp.fr
Study Contact Backup
- Name: Matthieu RESCHE-RIGON, Pr
- Phone Number: +33 1 42 49 97 42
- Email: matthieu.resche-rigon@u-paris.fr
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
For patients woth monogenic cSVD :
Inclusion Criteria:
- Patients aged between 18 and 80 years at the time of inclusion
- Diagnosis confirmed by detection of a pathogenic mutation in the NOTCH3 gene characteristic of CADASIL, or in another gene responsible for other forms of monogenic cSVD (such as COL4A1, COL4A2, HTRA1).
- Beneficiary of a social security system
- Having given their written consent
Non inclusion Criteria:
- Contraindication to lumbar puncture:
- Haemostasis disorder (severe thrombocytopenia <60,000/mm3, PT abnormalities, INR>1.5 and/or aPTT>1.5) or anticoagulant use.
- Spinal plaque in or near the lumbar region (surgery) that may interfere with CSF collection
- Behavioural disorder that may interfere with the sampling process
- Intracranial process, intracranial hypertension or risk of involvement on imaging
- Skin lesions (inflammation or infection of any kind) or developmental abnormality (myelomeningocele) adjacent to the puncture site
- Person referred to in articles L. 1121-5 to L. 1121-8 and L. 1122-12 of the public health code, defined as :
- Pregnant, parturient or breastfeeding woman
- Person deprived of liberty by judicial or administrative decision
- Person hospitalised without consent and not subject to a legal protection measure, and person admitted to a health or social establishment for purposes other than research
- Minor
- Person of full age subject to a legal protection measure (guardianship, curators or safeguard of justice), person of full age unable to express their consent and not subject to a protection measure
- Person subject to an exclusion period for another research
- Patients participating in other interventional research
- Contraindication to lumbar puncture:
- Haemostasis disorder (severe thrombocytopenia <60,000/mm3, PT abnormalities, INR>1.5 and/or aPTT>1.5) or anticoagulant use.
- Spinal plaque in or near the lumbar region (surgery) that may interfere with CSF collection
- Spinal plaque (surgery)
- Behavioural disorder that may interfere with the sampling process
- Intracranial process, intracranial hypertension or risk of involvement on imaging
- Skin lesions (psoriasis, infection....)inflammation or infection of any kind) or developmental abnormality (myelomeningocele) adjacent to the puncture site
- Person referred to in articles L. 1121-5 to L. 1121-8 and L. 1122-12 of the public health code, defined as
- Pregnant, parturient or breastfeeding woman
- Person deprived of liberty by judicial or administrative decision
- Person hospitalised without consent and not subject to a legal protection measure, and person admitted to a health or social establishment for purposes other than research
- Minor
- Person of full age subject to a legal protection measure (guardianship, curators or safeguard of justice), person of full age unable to express their consent and not subject to a protection measure
- Person subject to an exclusion period for another research
- Patients participating in other interventional research
For control patients ( selection after CSF sampling):
Inclusion criteria :
- Subject aged 18-80 years at the time of inclusion
- Imaging done: strictly normal CT scan OR MRI showing no abnormality suggestive of cSVD
- Beneficiary of a social security system
- Having had CSF and blood samples taken as part of the treatment
- Agreement to use blood and CSF samples remainders for research purposes (information and non-opposition).
- Women who were pregnant at the time the samples were taken will not be offered to participate in the study
Non inclusion criteria :
- Any previously identified intracranial vascular pathology requiring specific management (vasculitis, acute reversible angiopathy, severe intracranial atheroma)
- Acute or chronic infectious disease (meningitis or meningoencephalitis)
- Known pregnancy
- Persons participating in other interventional research
- Preparation and freezing time for blood and CSF samples is more than 4 hours
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Control patients
|
|
Patients with cerebral small vessel disease ( cSVD)
|
Lumbar puncture (Spinal Tap) and additional blood samples
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Differential CSF proteins
Time Frame: At inclusion
|
Differential ELISA determination of CSF proteins between monogenic cSVD patients and controls
|
At inclusion
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Differential blood proteins
Time Frame: At inclusion
|
Differential ELISA determination of blood (plasma) proteins between monogenic cSVD patients and controls
|
At inclusion
|
Correlation blood and CSF
Time Frame: At inclusion
|
Spearman correlation between plasma and CSF proteins assays in patients
|
At inclusion
|
Number
Time Frame: At inclusion
|
Number of CSF and blood samples obtained in monogenic cSVD patients and the control population
|
At inclusion
|
Effect of age on blood
Time Frame: At inclusion
|
Effect of age on ELISA determination of blood (plasma) proteins in patients and controls
|
At inclusion
|
Effect of age on CSF
Time Frame: At inclusion
|
Effect of age on ELISA determination of CSF proteins in patients and controls
|
At inclusion
|
Link between blood protein assays and strokes
Time Frame: At inclusion
|
Correlation between plasma proteins assays in patients on the number of strokes in patients
|
At inclusion
|
Link between CSF protein assays and strokes
Time Frame: At inclusion
|
Correlation between CSF proteins assays in patients on the number of strokes in patients
|
At inclusion
|
Link between blood protein assays and Rankin
Time Frame: At inclusion
|
Correlation between plasma proteins assays in patients on the modified Rankin score Wilson JL, Hareendran A, Hendry A, et al. (2005). "Reliability of the Modified Rankin Scale Across Multiple Raters: Benefits of a Structured Interview". Stroke. 36 (4): 777-781. Modified Rankin Scale permits to evaluate the degree of disability or dependance in daily activities of people who have suffered a stroke or other causes of neurological disability. It is a 6-level scale ranging from 1 to 6. The higher the score the higher the disability. |
At inclusion
|
Link between CSF protein assays and Rankin
Time Frame: At inclusion
|
Correlation between CSF proteins assays in patients on the modified Rankin score Wilson JL, Hareendran A, Hendry A, et al. (2005). "Reliability of the Modified Rankin Scale Across Multiple Raters: Benefits of a Structured Interview". Stroke. 36 (4): 777-781. Modified Rankin Scale permits to evaluate the degree of disability or dependance in daily activities of people who have suffered a stroke or other causes of neurological disability. It is a 6-level scale ranging from 1 to 6. The higher the score the higher the disability. |
At inclusion
|
Link between blood protein assays and MMSE
Time Frame: At inclusion
|
Correlation between plasma proteins assays in patients on the Mini-Mental State Examination (MMSE) Folstein MF, Folstein SE, McHugh PR, " Mini-mental state : a practical method for grading the cognitive state of patients for the clinician " J Psychiatr Res, 1975;12:189-198 The Mini-Mental State Examination (MMSE) permits to evaluate cognitive state of patients. It is a 30 items scale and the score varies between 0 and 30. The higher the score the better cognitive function. |
At inclusion
|
Link between CSF protein assays and MMSE
Time Frame: At inclusion
|
Correlation between CSF proteins assays in patients on the Mini-Mental State Examination (MMSE) Folstein MF, Folstein SE, McHugh PR, " Mini-mental state : a practical method for grading the cognitive state of patients for the clinician " J Psychiatr Res, 1975;12:189-198 The Mini-Mental State Examination (MMSE) permits to evaluate cognitive state of patients. It is a 30 items scale and the score varies between 0 and 30. The higher the score the better cognitive function. |
At inclusion
|
Collaborators and Investigators
Study record dates
Study Major Dates
Study Start (Anticipated)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Mental Disorders
- Ischemia
- Pathologic Processes
- Necrosis
- Cardiovascular Diseases
- Vascular Diseases
- Cerebrovascular Disorders
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Neurocognitive Disorders
- Genetic Diseases, Inborn
- Brain Ischemia
- Dementia
- Infarction
- Stroke
- Brain Infarction
- Cerebral Arterial Diseases
- Intracranial Arterial Diseases
- Cerebral Infarction
- Dementia, Vascular
- Cerebral Small Vessel Diseases
- CADASIL
- Dementia, Multi-Infarct
Other Study ID Numbers
- APHP220744
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Cerebral Small Vessel Diseases
-
Ain Shams UniversityNot yet recruitingCerebral Small Vessel Disease and OCT Angio
-
Assistance Publique - Hôpitaux de ParisUnknownSmall Vessel Cerebrovascular DiseaseFrance
-
Fondation Ophtalmologique Adolphe de RothschildFrench National Agency for Research on AIDS and Viral HepatitisCompleted
-
Zeng ChanghaoRecruitingCerebral Small Vessel DiseasesThailand
-
Shanghai Yueyang Integrated Medicine HospitalRecruitingCerebral Small Vessel DiseasesChina
-
Bin CaiRecruiting
-
Beijing Tiantan HospitalTasly Pharmaceutical Group Co., LtdActive, not recruiting
-
Sunnybrook Health Sciences CentreToronto Rehabilitation InstituteCompleted
-
St. Luke's Hospital, Chesterfield, MissouriWashington University School of MedicineTerminatedCerebral Small Vessel DiseasesUnited States
-
Yining HuangUnknownCerebral Small Vessel DiseasesChina
Clinical Trials on Cerebrospinal fluid (CSF) sample and additional blood samples
-
University of AarhusAarhus University Hospital; Spinal Cord Injury Centre of Western DenmarkUnknownSpinal Cord Injury, AcuteDenmark
-
University of Erlangen-Nürnberg Medical SchoolCompletedBrain Injuries | Critical Illness | Surgery--Complications | Trauma Injury | Tumor
-
Centre Hospitalier Régional d'OrléansImmunologie et Neurogénétique Expérimentales et Moléculaires (INEM)WithdrawnInflammation | Guillain-Barre Syndrome | Sclerosis, MultipleFrance
-
Sheba Medical CenterProf. Zerr , Prion Referral Center , University of Gottingen, GermanyNot yet recruitingCreutzfeldt-Jakob Syndrome
-
Assistance Publique Hopitaux De MarseilleUnknownAmyotrophic Lateral Sclerosis (ALS)France
-
Fondation Ophtalmologique Adolphe de RothschildRecruitingTuberous Sclerosis | Focal Cortical Dysplasia | Hemimegalencephaly | Refractory Focal Epilepsy | Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy (MOGHE)France
-
University Hospital, ToulouseCompleted
-
Centre Oscar LambretWithdrawnBreast Cancer | Leptomeningeal MetastasisFrance
-
MedImmune LLCAstraZenecaCompletedArthritisUnited States