Clinical trial NCT04485221: TECPR2 Observational Study
Official title: A Natural History Study in Children With a TECPR2 Mutation
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: TECPR2
Lead sponsor: University of Florida
Sponsor class: OTHER
First posted: 2020-07-24
Enrollment: 5
Sex: ALL
Minimum age (years): 18
Maximum age (years): 12
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Disease progression
timeFrame: Baseline up to 24 months
Secondary outcomes:
measure: Functional assessment: Gross Motor Function Measure
timeFrame: Baseline up to 24 months
measure: Functional assessment: Gross Motor Function Classification System
timeFrame: Baseline up to 24 months
measure: Functional assessment: Timed Tests
timeFrame: Baseline up to 24 months
measure: Functional assessment: Muscular Strength Testing
timeFrame: Baseline up to 24 months
measure: Functional assessment: Ankle Dorsiflexion Range of Motion
timeFrame: Baseline up to 24 months
measure: Patient Reported Outcomes: Pediatric Quality of Life Inventory
timeFrame: Baseline up to 24 months
measure: Patient Reported Outcomes: Pediatric Evaluation of Disability Inventory Computer Adaptive Test
timeFrame: Baseline up to 24 months
Other outcomes:
Locations:
city: Gainesville
country: United States
facility: Jenna Lammers
state: Florida
Study officials:
References:
citation: 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.
citation: 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.