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出境医 / 临床实验 / Imaging Biomarkers in Spastic Paraplegia Type 5 (SPIMA)

Imaging Biomarkers in Spastic Paraplegia Type 5 (SPIMA)

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

Condition or disease Intervention/treatment
Spastic Paraplegia Type 5 Other: Cerebral and spinal cord magnetic resonance imaging

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 Design
Layout table for study information
Study Type : Observational
Estimated Enrollment : 10 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Imaging Biomarkers in Spastic Paraplegia Type 5
Estimated Study Start Date : January 2022
Estimated Primary Completion Date : January 2023
Estimated Study Completion Date : January 2023
Arms and Interventions
Group/Cohort Intervention/treatment
SPG5 patients
Adult SPG5 patients with diagnostic confirmed by the identification of two mutations in the CYP7B1 gene
 Other: Cerebral and spinal cord magnetic resonance imaging

Cerebral and spinal cord magnetic resonance imaging (without injection of contrast medium).

Patient's data will be compared to calibrated data from the commercially available medical software Brain Quant (licence BT-BQ-001-START, market CAIH, CE12331).
Outcome Measures
Primary Outcome Measures :
  1. Changes in the cross-sectional area in the spine of SPG5 patients [ Time Frame: 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 :
  1. Changes in the cross-sectional area of the segmented white matter and gray matter in the spine of SPG5 patients [ Time Frame: 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.

  2. Changes in the diffusion tensor imaging (DTI) of the spine in SPG5 patients [ Time Frame: 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

  3. Changes in metabolic profiles in the spine of SPG5 patients [ Time Frame: 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.

  4. Changes in brain volume brain in SPG5 patients [ Time Frame: 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.

  5. Changes in the diffusion tensor imaging (DTI) in the brain of SPAG5 patients [ Time Frame: 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.

  6. Validation of correlation between EDSS score severity and severity of morphological and/or metabolic changes [ Time Frame: 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


Eligibility Criteria
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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

SPG5 is an Hereditary spastic paraparesis (HSP) with a frequency up to 8% of HSP families. Age at onset shows both an interfamilial and intrafamilial variability, with a range from early childhood to the 5th decade of life. Most SPG5 patients show a slowly progressive pure form.

All carriers of SPG5 will be recruited in La Pitié-Salpêtrière Hospital (Paris) among the patients of the National Reference Centre of Rare Diseases. Initially, patients benefitted from genetic analyses (Sanger analysis or next generation sequencing panel dedicated to hereditary spastic paraplegia genes). As far as possible, cohort of SPG5 patients will be the same as the population involved in the previous clinical trial (SPA-M, NCT02314208).

Criteria

Inclusion criteria

  • At least 18 years of age
  • Signature of the informed consent
  • Covered by social security
  • SPG5 patients identified with two mutations in the CYP7B1 gene

Exclusion criteria

  • Contra-indications to MRI (claustrophobia, metallic or material implants)
  • Additional psychiatric or neurological conditions / additional major comorbidities
  • History of severe head injury
  • Participation in another trial (except observational trial)
  • Pregnancy and breastfeeding
  • Inability to understand information about the protocol
  • Persons under AME
  • Persons deprived of their liberty by judicial or administrative decision
  • Adult subject under legal protection or unable to consent
  • Unwillingness to be informed in case of abnormal MRI
Contacts and Locations

Contacts
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Contact: Fanny MOCHEL, MD, PhD +33157274482 fanny.mochel@upmc.fr

Locations
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France
APHP - Pitié Salpetriere Hospital
Paris, France
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Layout table for investigator information
Principal Investigator: Fanny MOCHEL, MD, PhD Sorbonne Universités - Université Pierre et Marie Curie
Tracking Information
First Submitted Date September 14, 2020
First Posted Date December 30, 2021
Last Update Posted Date December 30, 2021
Estimated Study Start Date January 2022
Estimated Primary Completion Date January 2023   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: December 13, 2021) 		Changes in the cross-sectional area in the spine of SPG5 patients [ Time Frame: 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)
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures
 (submitted: December 13, 2021)
  • Changes in the cross-sectional area of the segmented white matter and gray matter in the spine of SPG5 patients [ Time Frame: 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.
  • Changes in the diffusion tensor imaging (DTI) of the spine in SPG5 patients [ Time Frame: 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 metabolic profiles in the spine of SPG5 patients [ Time Frame: 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 [ Time Frame: 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.
  • Changes in the diffusion tensor imaging (DTI) in the brain of SPAG5 patients [ Time Frame: 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.
  • Validation of correlation between EDSS score severity and severity of morphological and/or metabolic changes [ Time Frame: 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
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Imaging Biomarkers in Spastic Paraplegia Type 5
Official Title Imaging Biomarkers in Spastic Paraplegia Type 5
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 Type Observational
Study Design Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population

SPG5 is an Hereditary spastic paraparesis (HSP) with a frequency up to 8% of HSP families. Age at onset shows both an interfamilial and intrafamilial variability, with a range from early childhood to the 5th decade of life. Most SPG5 patients show a slowly progressive pure form.

All carriers of SPG5 will be recruited in La Pitié-Salpêtrière Hospital (Paris) among the patients of the National Reference Centre of Rare Diseases. Initially, patients benefitted from genetic analyses (Sanger analysis or next generation sequencing panel dedicated to hereditary spastic paraplegia genes). As far as possible, cohort of SPG5 patients will be the same as the population involved in the previous clinical trial (SPA-M, NCT02314208).
Condition Spastic Paraplegia Type 5
Intervention Other: Cerebral and spinal cord magnetic resonance imaging

Cerebral and spinal cord magnetic resonance imaging (without injection of contrast medium).

Patient's data will be compared to calibrated data from the commercially available medical software Brain Quant (licence BT-BQ-001-START, market CAIH, CE12331).
Study Groups/Cohorts SPG5 patients
Adult SPG5 patients with diagnostic confirmed by the identification of two mutations in the CYP7B1 gene
Intervention: Other: Cerebral and spinal cord magnetic resonance imaging
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Not yet recruiting
Estimated Enrollment
 (submitted: December 13, 2021) 		10
Original Estimated Enrollment Same as current
Estimated Study Completion Date January 2023
Estimated Primary Completion Date January 2023   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion criteria

  • At least 18 years of age
  • Signature of the informed consent
  • Covered by social security
  • SPG5 patients identified with two mutations in the CYP7B1 gene

Exclusion criteria

  • Contra-indications to MRI (claustrophobia, metallic or material implants)
  • Additional psychiatric or neurological conditions / additional major comorbidities
  • History of severe head injury
  • Participation in another trial (except observational trial)
  • Pregnancy and breastfeeding
  • Inability to understand information about the protocol
  • Persons under AME
  • Persons deprived of their liberty by judicial or administrative decision
  • Adult subject under legal protection or unable to consent
  • Unwillingness to be informed in case of abnormal MRI
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Fanny MOCHEL, MD, PhD +33157274482 fanny.mochel@upmc.fr
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT05174403
Other Study ID Numbers APHP200944
IDRCB ( Other Identifier: 2020-A01564-35 )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party Assistance Publique - Hôpitaux de Paris
Study Sponsor Assistance Publique - Hôpitaux de Paris
Collaborators Not Provided
Investigators
Principal Investigator: Fanny MOCHEL, MD, PhD Sorbonne Universités - Université Pierre et Marie Curie
PRS Account Assistance Publique - Hôpitaux de Paris
Verification Date December 2021