TECPR2 Observational Study

Completed

• Conditions: TECPR2

• Registration Number: NCT04485221
• Lead Sponsor: University of Florida

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 Timeline

• Study First Submitted: 2020-06-18
• Study First Submitted QC: 2020-07-21
• Study First Posted: 2020-07-24
• Study Start: 2021-01-20
• Primary Completion: 2023-08-17
• Study Completion: 2023-08-17
• Status Verified: 2023-09
• Last Update Submitted: 2023-09-08
• Last Update Posted: 2023-09-11

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 5

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Disease progression	Baseline up to 24 months	This will be monitored through medical history, physical exams, and a neurological exam.

Secondary Outcome Measures

Name	Time	Method
Functional assessment: Gross Motor Function Classification System	Baseline up to 24 months	This measures the functional level of the patient based on their age.
Functional assessment: Timed Tests	Baseline up to 24 months	Timed tests for ambulant children will include time to run 10 meters, time to climb four stairs, and time to rise from the floor from supine.
Functional assessment: Muscular Strength Testing	Baseline up to 24 months	Muscle strength will be assessed for grip, pinch, quadriceps, hamstrings, biceps, and triceps.
Functional assessment: Ankle Dorsiflexion Range of Motion	Baseline up to 24 months	This measurement is used to evaluate the degree of ankle contracture in a participant.
Patient Reported Outcomes: Pediatric Quality of Life Inventory	Baseline up to 24 months	A questionnaire used for measuring health-related quality of life in healthy children and adolescents and those with acute and chronic illnesses.
Functional assessment: Gross Motor Function Measure	Baseline up to 24 months	This evaluative measure of motor function is designed for quantifying change in the gross motor abilities of children.
Patient Reported Outcomes: Pediatric Evaluation of Disability Inventory Computer Adaptive Test	Baseline up to 24 months	This questionnaire measures the extent to which the caregiver or child takes responsibility for managing complex, multi-step life tasks.

Trial Locations

Locations (1)

Jenna Lammers; 🇺🇸 Gainesville, Florida, United States