TECPR2
Conditions
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.
Interventions
None listed
Sponsors
University of Florida
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Months to 12 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Disease progression | Baseline up to 24 months | This will be monitored through medical history, physical exams, and a neurological exam. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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: 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 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. |
| 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. |
| 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. |
Countries
United States
Outcome results
None listed