Status unknownNCT05793424CSF-cSVDUpdated Mar 31, 2023

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 in Cerebral Small Vessel Diseases and CADASIL (Diagnosis), sponsored by Assistance Publique - Hôpitaux de Paris. Status unknown. Open to participants aged 18 Years to 80 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2023-03-31.

Primary conditionCADASILRegistry: Cerebral Small Vessel DiseasesReclassifiedWhy we changed it

Registry

Cerebral Small Vessel Diseases — the first condition term the registry derived for this study.

ClinicalTrials.gg

CADASIL

Why

The study's listed conditions name CADASIL, a narrower term within Cerebral Small Vessel Diseases.

Confidence

High: the new condition is named in the study's own listed conditions. Of 351 hand-checked studies reclassified this way, 68% were exactly right and 84% in the right disease family; the registry's first term was right for 5% (measured 2026-10-21). How we classify →

Wrong?

Tell us the study's main condition →

Sponsored by Assistance Publique - Hôpitaux de Paris · Observational

The sponsor has not verified this record recently (last verified Mar 2023), so the status shown — last known as Not yet recruiting — may be out of date.

Study type: Observational
Model: Case-control
Time perspective: Other
Enrollment: 90
Ages: 18 Years to 80 Years
Sex: All

Study 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) 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.

Conditions studied

Cerebral Small Vessel Diseases
CADASIL (Diagnosis)

Browse trials for

Cerebral Small Vessel Diseases 128Registry's first term
CADASIL 33Primary · reclassified
Disease 2,423

In context

CADASIL Reclassified

33 studies on the registry are indexed under CADASIL; 18 are open to participants now.

This study's planned enrollment of 90 is below the median of 168 across 22 observational studies indexed under CADASIL.

Browse CADASIL studies →

Lead sponsor

Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,592 studies on the registry; 1,033 are open to participants now.

Browse Assistance Publique - Hôpitaux de Paris studies →

Compared within CADASIL, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Cerebral Small Vessel Diseases. The counts are of registry records indexed under each term, refreshed daily. How we classify →

Who can participate

Ages eligible: 18 Years to 80 Years
Sexes eligible: All
Accepts healthy volunteers: Yes
Sampling method: Probability sample

Study population

Patients : Patients with cerebral small vessel disease (cSVD) Controls : Patients hospitalized in neurology without any cSVD

Eligibility criteria

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:

to lumbar puncture:
Haemostasis disorder (severe thrombocytopenia \<60,000/mm3, PT abnormalities, >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

Terms in these criteria, in plain language(2)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Contraindication

A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.

INR, PT and aPTT (clotting tests)

Blood tests of how long blood takes to clot. The INR is the prothrombin time (PT) put on a common scale; about 1 is usual for someone not taking a blood thinner.

Criteria often make an exception for people on a blood thinner such as warfarin, whose INR is raised on purpose.

Study design

Observational model: Case-control
Time perspective: Other
Enrollment: 90 participants (estimated)
Patient registry: No

Groups and cohorts

Patients with cerebral small vessel disease ( cSVD)
Other: Cerebrospinal fluid (CSF) sample and additional blood samples
Control patients

Interventions

OtherCerebrospinal fluid (CSF) sample and additional blood samples
Lumbar puncture (Spinal Tap) and additional blood samples

What researchers measure

Primary outcomes

Differential CSF proteins
Differential ELISA determination of CSF proteins between monogenic cSVD patients and controls
Time frame: At inclusion

Secondary outcomes

Differential blood proteins
Differential ELISA determination of blood (plasma) proteins between monogenic cSVD patients and controls
Time frame: At inclusion
Correlation blood and CSF
Spearman correlation between plasma and CSF proteins assays in patients
Time frame: At inclusion
Number
Number of CSF and blood samples obtained in monogenic cSVD patients and the control population
Time frame: At inclusion
Effect of age on blood
Effect of age on ELISA determination of blood (plasma) proteins in patients and controls
Time frame: At inclusion
Effect of age on CSF
Effect of age on ELISA determination of CSF proteins in patients and controls
Time frame: At inclusion
Link between blood protein assays and strokes
Correlation between plasma proteins assays in patients on the number of strokes in patients
Time frame: At inclusion
Link between CSF protein assays and strokes
Correlation between CSF proteins assays in patients on the number of strokes in patients
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: At inclusion

Study locations

No study locations are listed for this record.

References and documents

Individual participant data

Plan to share: Undecided

No publications or documents are linked to this record.

Timeline

Tracking since Sep 25, 2026

ElapsedEstimatedEstimated, not yet reached

Start is estimated for Mar 2023; primary completion for Apr 2025, 25 months later.

How these figures are worked out, and which studies are left out of them.

Registered: Mar 20, 2023
First posted: Mar 31, 2023
StartEst.: Mar 2023
Primary completionEst.: Apr 2025
CompletionEst.: Apr 2025
Last update: Mar 31, 2023

What these dates mean

Start.: When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.: When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.: When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.: Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.

No changes since tracking began. The registry record was last updated on Mar 31, 2023, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗

Registry details

Key details

Study ID: NCT05793424
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Responsible party: Sponsor
First posted: Mar 31, 2023
Start date: Mar 2023 (estimated)
Primary completion: Apr 2025 (estimated)
Completion: Apr 2025 (estimated)
Last update: Mar 31, 2023

Study contacts

CHABRIAT Hugues, Pr

Contact

hugues.chabriat@aphp.fr

+33 1 49 95 25 93

Matthieu RESCHE-RIGON, Pr

Contact

matthieu.resche-rigon@u-paris.fr

+33 1 42 49 97 42

Oversight

Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No

View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is status unknown, as verified in Mar 2023. You cannot join it, but the record below documents what was studied.

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