Clinical trial NCT05174403: Imaging Biomarkers in Spastic Paraplegia Type 5
Official title: Imaging Biomarkers in Spastic Paraplegia Type 5
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Spastic Paraplegia Type 5A, Recessive
Keywords: spastic paraplegia
metabolism
magnetic resonance imaging
Expanded Disability Status Scale (EDSS)
brain
spine
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2021-12-30
Enrollment: 10
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
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).

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

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

Primary outcomes:
measure: Changes in the cross-sectional area in the spine of SPG5 patients
timeFrame: 1 day
Secondary outcomes:
measure: Changes in the cross-sectional area of the segmented white matter and gray matter in the spine of SPG5 patients
timeFrame: 1 day
measure: Changes in the diffusion tensor imaging (DTI) of the spine in SPG5 patients
timeFrame: 1 day
measure: Changes in metabolic profiles in the spine of SPG5 patients
timeFrame: 1 day
measure: Changes in brain volume brain in SPG5 patients
timeFrame: 1 day
measure: Changes in the diffusion tensor imaging (DTI) in the brain of SPAG5 patients
timeFrame: 1 day
measure: Validation of correlation between Expanded Disability Status Scale (EDSS) score severity and severity of morphological and/or metabolic changes
timeFrame: 1 day
Other outcomes:
Locations:
city: Paris
country: France
facility: APHP - Pitié Salpetriere Hospital
Study officials:
affiliation: Sorbonne Universités - Université Pierre et Marie Curie
name: Fanny MOCHEL, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: