TECPR2 Observational Study

A Natural History Study in Children With a TECPR2 Mutation

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

Study Overview

• Status: Completed
• Conditions: TECPR2

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 Type: Observational
• Enrollment (Actual): 5

Contacts and Locations

• Study Contact: Name: Samantha Norman; Phone Number: 352-273-8218; Email: samantha.norman@peds.ufl.edu

Study Locations

• United States
  • Florida
    • Gainesville, Florida, United States, 32610
      • Jenna Lammers

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 12 years (Child)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Children with TECPR2-Related disorder, confirmed by genetic mutation analysis and demonstrates clinical findings such as autophagy, developmental delay, hypotonia, or other positive findings.

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Children with a TECPR2 mutation; 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?

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

Collaborators and Investigators

• Sponsor: University of Florida

Publications and helpful links

General Publications

• Oz-Levi D, Gelman A, Elazar Z, Lancet D. TECPR2: a new autophagy link for neurodegeneration. Autophagy. 2013 May;9(5):801-2. doi: 10.4161/auto.23961. Epub 2013 Feb 25.
• Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21.

Helpful Links

• Genetic home reference for TECPR2

Study record dates

Study Major Dates

• Study Start (Actual): January 20, 2021
• Primary Completion (Actual): August 17, 2023
• Study Completion (Actual): August 17, 2023

Study Registration Dates

• First Submitted: June 18, 2020
• First Submitted That Met QC Criteria: July 21, 2020
• First Posted (Actual): July 24, 2020

Study Record Updates

• Last Update Posted (Actual): September 11, 2023
• Last Update Submitted That Met QC Criteria: September 8, 2023
• Last Verified: September 1, 2023

More Information

Terms related to this study

• Other Study ID Numbers: IRB202001737

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No