Establishment of a CSF Bank for the Development of Biomarkers of Smooth Muscle Cell (SMC) Damage in Monogenic Cerebral Small Vessel Disease

NCT05793424 | Unknown

• 1 other identifier: APHP220744
• Study Type: observational
• Target: 90
• Locations: 0 countries
• Sites: N/A

Brief 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

Cerebral Small Vessel Diseases; CADASIL (Diagnosis)

Outcome Measures

Primary Outcomes (1)

• Differential CSF proteins

  Differential ELISA determination of CSF proteins between monogenic cSVD patients and controls

  At inclusion

Secondary Outcomes (11)

• Differential blood proteins

  At inclusion

• Correlation blood and CSF

  At inclusion

• Number

  At inclusion

• Effect of age on blood

  At inclusion

• Effect of age on CSF

  At inclusion

Study Arms (2)

Patients with cerebral small vessel disease ( cSVD)

Other: Cerebrospinal fluid (CSF) sample and additional blood samples

Control patients

Interventions

Cerebrospinal fluid (CSF) sample and additional blood samples OTHER

Lumbar puncture (Spinal Tap) and additional blood samples

Patients with cerebral small vessel disease ( cSVD)

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

• 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:
• 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

MeSH Terms

Conditions

Cerebral Small Vessel Diseases; CADASIL; Disease

Condition Hierarchy (Ancestors)

Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Cerebral Infarction; Brain Infarction; Brain Ischemia; Dementia, Vascular; Cerebral Arterial Diseases; Intracranial Arterial Diseases; Stroke; Dementia; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infarction; Ischemia; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Necrosis

Central Study Contacts

CHABRIAT Hugues, Pr

CONTACT

+33 1 49 95 25 93; hugues.chabriat@aphp.fr

Matthieu RESCHE-RIGON, Pr

CONTACT

+33 1 42 49 97 42; matthieu.resche-rigon@u-paris.fr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 20, 2023
• First Posted: March 31, 2023
• Study Start: March 1, 2023
• Primary Completion: April 1, 2025
• Study Completion: April 1, 2025
• Last Updated: March 31, 2023

Record last verified: 2023-03