Cognitive Disorders in Hereditary Spastic Paraplegia Type 4 (SPG-TEP)

February 7, 2024 updated by: RENAUD Mathilde, Central Hospital, Nancy, France

Cognitive Disorders and Metabolism in 18-FDG- PET in Hereditary Spastic Paraplegia Type 4 (SPG4)

Hereditary spastic paraplegia type 4 is the most frequent mutation of hereditary spastic paraplegias. It is commonly described as pure, with progressive weakness of the lower limbs, pyramidal syndrome and vesico-sphincter disorders. However, cognitive disorders have been reported for over 20 years, but remain poorly characterized.

Study Overview

Status

Recruiting

Conditions

Spastic Paraplegia

Intervention / Treatment

Radiation: 18-FDG-PET

Detailed Description

Our primary objective is to describe a pattern of cognitive impairment in Hereditary Spastic Paraplegia type 4 using 18-FDG-PET metabolic imaging.

As secondary objectives, we wish to study the presence of correlations between neuropsychological tests, clinical examination, 18-FDG-PET data and general and genetic data of the pathology. We also wish to investigate correlations between genotype and phenotype.

Study Type

Observational

Enrollment (Estimated)

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Name: Mathilde Renaud
Phone Number: +333 83 85 17 80
Email: m.renaud2@chru-nancy.fr

Study Locations

France
- - Nancy, France, 54000
    - Recruiting
    - Centre hospitalier régional universitaire
    - Contact:
      
      Mathilde Renaud, MD, PhD
      
      Email: m.renaud2@chru-nancy.fr

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

Child
Adult
Older Adult

Accepts Healthy Volunteers

Sampling Method

Non-Probability Sample

Study Population

Patients followed in the Grand Est region for type 4 spastic paraplegia with identification of a pathogenic or probably pathogenic variant in the SPAST gene.

Description

Inclusion Criteria:

Patient over 18 years of age, living in the Grand Est region (France)
Patient with a pathogenic or probably pathogenic variant (class 4 or 5) in the SPAST gene.

Exclusion Criteria:

dementia comorbidities or cognitive disorders unrelated to the pathology that may affect neuropsychological tests.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
cognitive testing Time Frame: baseline	we use detailed neuropsychological tests (MoCA)	baseline

Secondary Outcome Measures

Outcome Measure	Time Frame
Correlations between neuropsychological tests, clinical examination, PET and general data. Time Frame: baseline	baseline
Genotype/Phenotype correlations Time Frame: baseline	baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Central Hospital, Nancy, France

Investigators

Principal Investigator: Mathilde Renaud, Central Hospital Nancy

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2022

Primary Completion (Estimated)

January 1, 2025

Study Completion (Estimated)

January 2, 2025

Study Registration Dates

First Submitted

June 26, 2023

First Submitted That Met QC Criteria

February 7, 2024

First Posted (Estimated)

February 15, 2024

Study Record Updates

Last Update Posted (Estimated)