NCT05793424

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

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 90 (estimated)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 18 Years – 80 Years
• Healthy volunteers: Accepted

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)

Interventions

Type	Name	Description
OTHER	Cerebrospinal fluid (CSF) sample and additional blood samples	Lumbar puncture (Spinal Tap) and additional blood samples

Timeline

• Start date: 2023-03-01
• Primary completion: 2025-04-01
• Completion: 2025-04-01
• First posted: 2023-03-31
• Last updated: 2023-03-31