Imaging Biomarkers in Spastic Paraplegia Type 5

Completed

• Conditions: Spastic Paraplegia Type 5A, Recessive
• Interventions: Other: Cerebral and spinal cord magnetic resonance imaging

• Registration Number: NCT05174403
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief Summary

This is a research study aiming to identify imaging biomarkers in patients diagnosed with spastic paraplegia type 5 (SPG5)

Detailed Description

"The aim of this study is to identify robust and reliable imaging biomarkers of disease by using novel macrostructural (volumetry), microstructural (fiber tractography) and spectroscopy (metabolites) methods to calculate SPG5 patients biometrics using a commercially available medical software Brain Quant (licence BT-BQ-001-START, market CAIH, CE12331), an approach with a larger effect size than conventional methods."

This study will recruit 10 SPG5 patients. Each participant will be invited to a one-day session during which a clinical examination will performed and an EDSS score will be assigned, followed by a brain and a spine MRI/MRS examination.

Clinical implications: This study will define biomarkers that can be quantified in SPG5 patients and that could be used as read-outs to assay therapeutic effects in clinical trials focused on SPG5 patients

Study Timeline

• Study First Submitted: 2020-09-14
• Study First Submitted QC: 2021-12-13
• Study First Posted: 2021-12-30
• Study Start: 2022-01-28
• Primary Completion: 2023-07-25
• Study Completion: 2023-07-25
• Status Verified: 2023-08
• Last Update Submitted: 2023-08-21
• Last Update Posted: 2023-08-22

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 10

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
SPG5 patients	Cerebral and spinal cord magnetic resonance imaging	Adult SPG5 patients with diagnostic confirmed by the identification of two mutations in the CYP7B1 gene

Primary Outcome Measures

Name	Time	Method
Changes in the cross-sectional area in the spine of SPG5 patients	1 day	An MRI analysis will be performed at the level of the spinal cord of SPG5. This analysis will quantify the cross-sectional area, in pixel, of each vertebra in each imaged individual, using the commercially available medical software Brain Quant (licence BT-BQ-001-START, market CAIH, CE12331)

Secondary Outcome Measures

Name	Time	Method
Changes in the diffusion tensor imaging (DTI) in the brain of SPAG5 patients	1 day	An MRI analysis will be performed at the level of the brain of SPG5 patients. This analysis will allow the quantification of FA and RD in different regions of the brain.
Changes in the diffusion tensor imaging (DTI) of the spine in SPG5 patients	1 day	An MRI analysis will be performed at the level of the spinal cord of and SPG5 patients. This analysis will allow the quantification of fraction anisotropy (FA) and radial diffusivity (RD) in different regions of the spine
Changes in the cross-sectional area of the segmented white matter and gray matter in the spine of SPG5 patients	1 day	An MRI analysis will be performed at the level of the spinal cord SPG5 patients. This analysis will quantify the cross-sectional area, in pixel2, of the segmented white matter and gray matter in each imaged individual.
Validation of correlation between Expanded Disability Status Scale (EDSS) score severity and severity of morphological and/or metabolic changes	1 day	An EDSS score will be assigned to each participant after clinical evaluation. Each participant's biomarker severity scores will be compared to his respective EDSS score and determine whether EDSS severity score correlates with biomarker severity.; The EDSS scale ranges from 0 to 10 in 0.5 unit increments that represent higher levels of disability. Scoring is based on an examination by a neurologist.; EDSS steps 1.0 to 4.5 refer to people who are able to walk without any aid and is based on measures of impairment in eight functional systems (FS).; EDSS steps 5.0 to 9.5 are defined by the impairment to walking.
Changes in metabolic profiles in the spine of SPG5 patients	1 day	A combined MRI/MRS analysis will be performed at the level of the spinal cord of SPG5 patients. This analysis will allow to quantify in parts per million (ppm) the ratios of the following metabolites in the spine: N-acetylaspartate, myo-inositol, choline and creatine.
Changes in brain volume brain in SPG5 patients	1 day	An MRI analysis will be performed at the level of brain of SPG5 patients. This analysis will allow the quantification in voxels of brain volume.

Trial Locations

Locations (1)

APHP - Pitié Salpetriere Hospital; 🇫🇷 Paris, France