TECPR2 Observational Study

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

Detailed Description
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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.

Official Title
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A Natural History Study in Children With a TECPR2 Mutation

Conditions
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TECPR2

Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Minimum Age: 18 Months
Maximum Age: 12 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Children with a TECPR2 mutation<br>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. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Disease progression | This will be monitored through medical history, physical exams, and a neurological exam. | Baseline up to 24 months | 

Secondary Outcome Measures

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