Ignite Creation Date:
2024-05-06 @ 1:42 AM
Last Modification Date:
2024-10-26 @ 11:08 AM
Study NCT ID:
NCT01874769
Status:
UNKNOWN
Last Update Posted:
2013-12-18
First Post:
2013-04-03
Brief Title:
Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa RDEB
Sponsor:
Organization:
Institut National de la Santé Et de la Recherche Médicale France
Study Design
Study Type:
OBSERVATIONAL
Expanded Access Type Individual:
None
Expanded Access Type Intermediate:
None
Expanded Access Type Treatment:
None
Patient Registry:
False
Target Duration:
None
Design Allocation:
Design Intervention Model:
Design Intervention Model Description:
Design Masking Description:
Bio Spec Retention:
SAMPLES_WITH_DNA
Bio Spec Description:
All patients will have a blood sample of 5 ml on EDTA 10 ml on heparin and 5 ml on dry tube collected for genomic DNA extraction to identify or verify COL7A1 mutations mutation screening of the patients will be performed to identify COL7A1 mutations on both alleles 2 HLA genotyping patients selected on the clinical and molecular criteria will be HLA-genotyped by PCR to determine the likelihood of an immune response to the type VII collagen wild-type protein A 5-mm punch skin biopsy performed under local anaesthesic will be undertaken during visit 1 for diagnostic purposes The consequences of COL7A1 mutations on collagen VII protein expression will be determined if not performed previously Two additional 5-mm punch skin biopsies will be taken from different areas from up to 10 patients during the second visit Keratinocytes and fibroblasts will be expanded and stored in vapor-phase liquid-nitrogen
Enrollment Count:
30
Enrollment Type:
ESTIMATED
Design Primary Purpose:
Design Masking:
Phases:
Observational Models:
| Name |
|---|
| Cohort |
Time Perspective List:
Who Masked List: