Ignite Creation Date:
2024-05-06 @ 2:22 AM
Last Modification Date:
2024-10-26 @ 11:17 AM
Study NCT ID:
NCT02032225
Status:
UNKNOWN
Last Update Posted:
2016-12-07
First Post:
2014-01-03
Brief Title:
Generation of a Cellular Model of CADASIL From Skin Fibroblasts
Sponsor:
Institut National de la Santé Et de la Recherche Médicale France
Organization:
Institut National de la Santé Et de la Recherche Médicale France
Study Overview
Official Title:
Obtention dun modèle Cellulaire de la Maladie CADASIL à Partir de Fibroblastes cutanés de Patients
Status:
UNKNOWN
Status Verified Date:
2016-12
Last Known Status:
ENROLLING_BY_INVITATION
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy CADASIL is an archetypal small vessel disease of the brain caused by dominant mutations in the NOTCH3 receptor Cardinal vascular lesions include deposition of granular osmiophilic material GOM within the basal lamina of smooth muscle cells progressive smooth muscle cell loss and fibrosis of the media Pathogenic mutations alter the number of cysteine residues in the extracellular domain of NOTCH3 Notch3 ECD leading to its abnormal accumulation in the GOM deposits Vascular smooth muscle cell has been identified as the primary target cell in this disease Pathophysiological processes leading from NOTCH3 mutations to smooth muscle cell loss remain poorly understood
The investigators propose to study these mechanisms by reprogramming skin cells to become stem cells and then differentiating them to vascular smooth muscle cells
The hypothesis of this study is that the differentiated smooth muscle cells will display the characteristic features of CADASIL ie Notch3 ECD accumulation and GOM deposits
The investigators propose to study these mechanisms by reprogramming skin cells to become stem cells and then differentiating them to vascular smooth muscle cells
The hypothesis of this study is that the differentiated smooth muscle cells will display the characteristic features of CADASIL ie Notch3 ECD accumulation and GOM deposits
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 2013-A00994-41 | REGISTRY | IDRCB | None |