TECPR2 Observational Study

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

5 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-01-20

Study Completion Date

2023-08-17

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.

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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.

Conditions

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TECPR2

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

No interventions assigned to this group

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.

Minimum Eligible Age

18 Months

Maximum Eligible Age

12 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No