Trials / Completed
CompletedNCT04485221
TECPR2 Observational Study
A Natural History Study in Children With a TECPR2 Mutation
- Status
- Completed
- Phase
- —
- Study type
- Observational
- Enrollment
- 5 (actual)
- Sponsor
- University of Florida · Academic / Other
- Sex
- All
- Age
- 18 Months – 12 Years
- Healthy volunteers
- Not accepted
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.
Conditions
Timeline
- Start date
- 2021-01-20
- Primary completion
- 2023-08-17
- Completion
- 2023-08-17
- First posted
- 2020-07-24
- Last updated
- 2023-09-11
Locations
1 site across 1 country: United States
Source: ClinicalTrials.gov record NCT04485221. Inclusion in this directory is not an endorsement.