TECPR2 Observational Study

University of Florida

Status: Completed

Conditions: TECPR2

Study type: Observational

Funder types: Other

Identifiers

NCT04485221

IRB202001737

Details and patient eligibility

About

The purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation.

Full 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.

Enrollment: 5 patients

Sex: All

Ages: 18 months to 12 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• 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 criteria

• 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.

Trial design

5 participants in 1 patient group

Children with a TECPR2 mutation

Description:

Children with a TECPR2 mutation, age 18 months to 12 years old. Assessments will include collection of genetic mutation reports, functional assessments, and questionnaires. There will be a singular blood draw and skin biopsy.