Imaging Biomarkers in Spastic Paraplegia Type 5 (SPIMA)

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Spastic Paraplegia Type 5A, Recessive

Treatments: Other: Cerebral and spinal cord magnetic resonance imaging

Study type: Observational

Funder types: Other

Identifiers

NCT05174403

APHP200944

IDRCB (Other Identifier)

Details and patient eligibility

About

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

Full 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

Enrollment: 10 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion 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

Trial design

10 participants in 1 patient group

SPG5 patients

Description:

Adult SPG5 patients with diagnostic confirmed by the identification of two mutations in the CYP7B1 gene

Treatment:

Other: Cerebral and spinal cord magnetic resonance imaging