Jenna Lammers
Gainesville, Florida, 32610, United States
Completed
NCT Number: NCT04485221
TECPR2 Observational Study
The purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation.
Completed
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Conditions
Age range
18 month–12 year
Sex eligibility
All sexes
Study type
Observational
Primary location
About this study
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.
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
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.
Treatment and study plan
Primary outcomes
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Disease progression
Time frame: Baseline up to 24 months
This will be monitored through medical history, physical exams, and a neurological exam.
Secondary outcomes
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Functional assessment: Gross Motor Function Measure
Time frame: Baseline up to 24 months
This evaluative measure of motor function is designed for quantifying change in the gross motor abilities of children.
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Functional assessment: Gross Motor Function Classification System
Time frame: Baseline up to 24 months
This measures the functional level of the patient based on their age.
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Functional assessment: Timed Tests
Time frame: 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.
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Functional assessment: Muscular Strength Testing
Time frame: Baseline up to 24 months
Muscle strength will be assessed for grip, pinch, quadriceps, hamstrings, biceps, and triceps.
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Functional assessment: Ankle Dorsiflexion Range of Motion
Time frame: Baseline up to 24 months
This measurement is used to evaluate the degree of ankle contracture in a participant.
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Patient Reported Outcomes: Pediatric Quality of Life Inventory
Time frame: 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.
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Patient Reported Outcomes: Pediatric Evaluation of Disability Inventory Computer Adaptive Test
Time frame: 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.
Sponsors and collaborators
Lead sponsor
University of Florida
Other
Registry information
Official study title
A Natural History Study in Children With a TECPR2 Mutation
Important dates
- Study start
- 2021
- Primary completion
- 2023
- Study completion
- 2023
- First posted
- Jul 24, 2020
- Registry last updated
- Sep 11, 2023
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.