Cerebral Small Vessel DiseasesCSF-cSVDNCT05793424
Establishment of a CSF Bank for the Development of Biomarkers of Smooth Muscle Cell (SMC) Damage in Monogenic Cerebral Small Vessel Disease
An observational study of Cerebral Small Vessel Diseases and CADASIL (Diagnosis), run by Assistance Publique - Hôpitaux de Paris.
Trial summary
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)… Read more about this study
- Who is it for?
- Ages 18 to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- Cerebral Small Vessel Diseases, CADASIL (Diagnosis)
- What is being tested?
- Cerebrospinal fluid (CSF) sample and additional blood samples
- How many people
- 90 participants
- Where
- No sites listed yet
- Study dates
- Mar 2023to Apr 2025
- Phase
- Observational
- 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 to 80 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Patients : Patients with cerebral small vessel disease (cSVD) Controls : Patients hospitalized in neurology without any cSVD
Who may be able to join
- 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:
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- 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):
- 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
Who cannot join
None listed.
Trial locations and contacts
No sites are listed yet.
About this study
Official title: 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.
- Being tested
- Cerebrospinal fluid (CSF) sample and additional blood samples
- Medical subject headings
- Cerebral Small Vessel Diseases, CADASIL, Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Cerebrospinal fluid (CSF) sample and additional blood samplesOther
Lumbar puncture (Spinal Tap) and additional blood samples
| Study group | Role | What they receive |
|---|---|---|
| Patients with cerebral small vessel disease ( cSVD) | Not described Receives: Other: Cerebrospinal fluid (CSF) sample and additional blood samples | |
| Control patients | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Differential CSF proteins
Differential ELISA determination of CSF proteins between monogenic cSVD patients and controls
Measured: At inclusion
Secondary outcomes (11)
Differential blood proteins
Differential ELISA determination of blood (plasma) proteins between monogenic cSVD patients and controls
Measured: At inclusion
Correlation blood and CSF
Spearman correlation between plasma and CSF proteins assays in patients
Measured: At inclusion
Number
Number of CSF and blood samples obtained in monogenic cSVD patients and the control population
Measured: At inclusion
Effect of age on blood
Effect of age on ELISA determination of blood (plasma) proteins in patients and controls
Measured: At inclusion
Effect of age on CSF
Effect of age on ELISA determination of CSF proteins in patients and controls
Measured: At inclusion
Link between blood protein assays and strokes
Correlation between plasma proteins assays in patients on the number of strokes in patients
Measured: At inclusion
Link between CSF protein assays and strokes
Correlation between CSF proteins assays in patients on the number of strokes in patients
Measured: At inclusion
Link between blood protein assays and Rankin
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.
Measured: At inclusion
Link between CSF protein assays and Rankin
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.
Measured: At inclusion
Link between blood protein assays and MMSE
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.
Measured: At inclusion
Link between CSF protein assays and MMSE
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.
Measured: At inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Mar 2023
- Study startMar 2023 (estimated)
- Primary completionApr 2025 (estimated)
- Study completionApr 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cerebral Small Vessel DiseasesStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- 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
- Observational
- Observational model
- Case-control
- Time perspective
- Other
- Enrolment
- 90 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05793424
- Sponsor's protocol ID
- APHP220744
- Acronym
- CSF-cSVD
- Status last verified
- Mar 2023
- First submitted
- 20 Mar 2023
- Last updated
- 31 Mar 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 31 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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
- ClinicalTrials.gov ID
- NCT05793424
- Acronym / sponsor ID
- CSF-cSVD / APHP220744
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 90 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Mar 2023 (estimated)
- Primary completion
- Apr 2025 (estimated)
- Study completion
- Apr 2025 (estimated)
- First posted
- 31 Mar 2023 (actual)
- 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.
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 design
- Observational model
- Case-control
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with cerebral small vessel disease ( cSVD) | – | Other: Cerebrospinal fluid (CSF) sample and additional blood samples |
| Control patients | – | – |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Patients : Patients with cerebral small vessel disease (cSVD) Controls : Patients hospitalized in neurology without any cSVD
Key inclusion criteria (47 listed)
- 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
- Contraindication to lumbar puncture:
Key exclusion criteria (0 listed)
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 |
|---|---|---|
| Cerebrospinal fluid (CSF) sample and additional blood samplesLumbar puncture (Spinal Tap) and additional blood samples | Other | Patients with cerebral small vessel disease ( cSVD) |
Primary outcome
Differential CSF proteins
Time frame: At inclusion
Differential ELISA determination of CSF proteins between monogenic cSVD patients and controls
11 secondary outcomes
Differential blood proteins
Time frame: At inclusion
Correlation blood and CSF
Time frame: At inclusion
Number
Time frame: At inclusion
Effect of age on blood
Time frame: At inclusion
Effect of age on CSF
Time frame: At inclusion
Link between blood protein assays and strokes
Time frame: At inclusion
Link between CSF protein assays and strokes
Time frame: At inclusion
Link between blood protein assays and Rankin
Time frame: At inclusion
Link between CSF protein assays and Rankin
Time frame: At inclusion
Link between blood protein assays and MMSE
Time frame: At inclusion
Link between CSF protein assays and MMSE
Time frame: At inclusion
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Mar 2023.
- Individual participant dataSharing planned: Undecided
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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.
Questions about this trial
What is this clinical trial studying?
An observational study of Cerebral Small Vessel Diseases and CADASIL (Diagnosis), run by Assistance Publique - Hôpitaux de Paris.
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 47 inclusion and 0 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: status not confirmed, as of the sponsor's last update on 31 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.
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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact CHABRIAT Hugues, Pr (+33 1 49 95 25 93, hugues.chabriat@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Differential CSF proteins (time frame: At inclusion). 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 31 Mar 2023.