Ignite Creation Date:
2024-05-06 @ 2:58 PM
Last Modification Date:
2024-10-26 @ 1:41 PM
Study NCT ID:
NCT04485221
Status:
COMPLETED
Last Update Posted:
2023-09-11
First Post:
2020-06-18
Brief Title:
TECPR2 Observational Study
Sponsor:
University of Florida
Organization:
University of Florida
Study Overview
Official Title:
A Natural History Study in Children With a TECPR2 Mutation
Status:
COMPLETED
Status Verified Date:
2023-09
Last Known Status:
None
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:
The purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation
Detailed Description:
A mutation in the tectonin beta-propeller repeat containing 2 TECPR2 gene can disrupt the cellular process of autophagy resulting in neuronal cell death This disruption leads to a form of spastic paraplegia with the additional disruption to involuntary body processes such as respiration and thermoregulation This study will provide valuable information about the natural progression of children with a TECPR2 mutation
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None