Spastic Paraplegia Type 5A, RecessiveSPIMANCT05174403
Imaging Biomarkers in Spastic Paraplegia Type 5
An observational study of Spastic Paraplegia Type 5A, Recessive, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
This is a research study aiming to identify imaging biomarkers in patients diagnosed with spastic paraplegia type 5 (SPG5) Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Spastic Paraplegia Type 5A, Recessive
- What is being tested?
- Cerebral and spinal cord magnetic resonance imaging
- Type of treatment
- Injection or infusion
- How many people
- 10 participants
- Where
- 1 siteFrance
- Study dates
- 28 Jan 2022to 25 Jul 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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).
Who may be able to join
- 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
Who cannot join
- 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
Show all 10Show fewer
- 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 locations and contacts
1 site in 1 country.
About this study
This is a research study aiming to identify imaging biomarkers in patients diagnosed with spastic paraplegia type 5 (SPG5)
Read the 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
- Conditions
- Spastic Paraplegia Type 5A, Recessive
- Being tested
- Cerebral and spinal cord magnetic resonance imaging
- Keywords
- spastic paraplegia, metabolism, magnetic resonance imaging, Expanded Disability Status Scale (EDSS), brain, spine
- Medical subject headings
- Spastic Paraplegia, Hereditary, Paraplegia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Cerebral and spinal cord magnetic resonance imagingOther
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 group | Role | What they receive |
|---|---|---|
| SPG5 patients | Adult SPG5 patients with diagnostic confirmed by the identification of two mutations in the CYP7B1 gene Receives: Other: Cerebral and spinal cord magnetic resonance imaging |
What is being measured
The primary outcome is the main question the study is designed to answer.
Changes in the cross-sectional area in the spine of SPG5 patients
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)
Measured: 1 day
Secondary outcomes (6)
Changes in the cross-sectional area of the segmented white matter and gray matter in the spine of SPG5 patients
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.
Measured: 1 day
Changes in the diffusion tensor imaging (DTI) of the spine in SPG5 patients
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
Measured: 1 day
Changes in metabolic profiles in the spine of SPG5 patients
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.
Measured: 1 day
Changes in brain volume brain in SPG5 patients
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.
Measured: 1 day
Changes in the diffusion tensor imaging (DTI) in the brain of SPAG5 patients
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.
Measured: 1 day
Validation of correlation between Expanded Disability Status Scale (EDSS) score severity and severity of morphological and/or metabolic changes
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.
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Dec 2021
- Study start28 Jan 2022
- Primary completion25 Jul 2023
- Study completion25 Jul 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spastic Paraplegia Type 5A, RecessiveStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Fanny MOCHEL, MD, PhD, Principal investigator, Sorbonne Universités - Université Pierre et Marie Curie
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05174403
- Sponsor's protocol ID
- APHP200944
- Other IDs
- IDRCB
- Acronym
- SPIMA
- Status last verified
- Aug 2023
- First submitted
- 14 Sep 2020
- Last updated
- 22 Aug 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 22 Aug 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Imaging Biomarkers in Spastic Paraplegia Type 5
- ClinicalTrials.gov ID
- NCT05174403
- Acronym / sponsor ID
- SPIMA / APHP200944
- Conditions
- Spastic Paraplegia Type 5A, Recessive
- Keywords
- spastic paraplegia, metabolism, magnetic resonance imaging, Expanded Disability Status Scale (EDSS), brain, spine
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 10 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 28 Jan 2022 (actual)
- Primary completion
- 25 Jul 2023 (actual)
- Study completion
- 25 Jul 2023 (actual)
- First posted
- 30 Dec 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| SPG5 patients | – | Other: Cerebral and spinal cord magnetic resonance imagingAdult SPG5 patients with diagnostic confirmed by the identification of two mutations in the CYP7B1 gene |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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).
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (10 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Cerebral and spinal cord magnetic resonance imagingCerebral 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). | Other | SPG5 patients |
Primary outcome
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)
6 secondary outcomes
Changes in the cross-sectional area of the segmented white matter and gray matter in the spine of SPG5 patients
Time frame: 1 day
Changes in the diffusion tensor imaging (DTI) of the spine in SPG5 patients
Time frame: 1 day
Changes in metabolic profiles in the spine of SPG5 patients
Time frame: 1 day
Changes in brain volume brain in SPG5 patients
Time frame: 1 day
Changes in the diffusion tensor imaging (DTI) in the brain of SPAG5 patients
Time frame: 1 day
Validation of correlation between Expanded Disability Status Scale (EDSS) score severity and severity of morphological and/or metabolic changes
Time frame: 1 day
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Aug 2023.
- Individual participant dataSharing planned: Undecided
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Fanny MOCHEL, MD, PhD principal investigator
Sorbonne Universités - Université Pierre et Marie Curie
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Spastic Paraplegia Type 5A, Recessive, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Aug 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Changes in the cross-sectional area in the spine of SPG5 patients (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Aug 2023.