Status:
COMPLETED
TECPR2 Observational Study
Lead Sponsor:
University of Florida
Conditions:
TECPR2
Eligibility:
All Genders
18-12 years
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 p...
Eligibility Criteria
Inclusion
- Written informed consent (and assent where appropriate) before any study procedures take place;
- Male or female;
- 18 months to 12 years old, at enrollment; and
- Have a diagnosis of TECPR2-Related disorder, as defined by biochemical criteria AND/OR genetic mutation analysis, AND demonstrate clinical findings such as autophagy, developmental delay, hypotonia, or other positive findings.
Exclusion
- Subject is unable to comply with study requirements; or
- Have any other concurrent condition that, in the opinion of the investigator, would make the subject unsuitable for the study.
Key Trial Info
Start Date :
January 20 2021
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
August 17 2023
Estimated Enrollment :
5 Patients enrolled
Trial Details
Trial ID
NCT04485221
Start Date
January 20 2021
End Date
August 17 2023
Last Update
September 11 2023
Active Locations (1)
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1
Jenna Lammers
Gainesville, Florida, United States, 32610