Ignite Creation Date:
2024-05-06 @ 5:55 PM
Last Modification Date:
2024-10-26 @ 2:38 PM
Study NCT ID:
NCT05481164
Status:
RECRUITING
Last Update Posted:
2024-02-28
First Post:
2022-06-21
Brief Title:
Newborn Screening for Spinal Muscular Atrophy
Sponsor:
Organization:
University of Oxford
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:
an automated multi-hole punching machine generates samples discs from the dried blood spots on the Guthrie card to be used in the routine screening of conditions included in national NHS newborn blood spot screening programme
DNA will be extracted from the sample and run on a sensitive assay called qPCR which will allow us to detect the presence of the affected gene in SMA called SMN1
Enrollment Count:
45000
Enrollment Type:
ESTIMATED
Design Primary Purpose:
Design Masking:
Phases:
Observational Models:
| Name |
|---|
| Cohort |
Time Perspective List:
Clinical Trial Statuses
| Name |
|---|
| 87662 |
Who Masked List: