TECPR2 Observational Study

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University of Florida

Status

Completed

Conditions

TECPR2

Study type

Observational

Funder types

Other

Identifiers

NCT04485221
IRB202001737

Details and patient eligibility

About

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

Full 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.

Enrollment

5 patients

Sex

All

Ages

18 months to 12 years old

Volunteers

No Healthy Volunteers

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.

Trial design

5 participants in 1 patient group

Children with a TECPR2 mutation
Description:
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.

Trial contacts and locations

0

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Central trial contact

Samantha Norman

Data sourced from clinicaltrials.gov

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