Spinal Muscular Atrophy Type IIINCT06137612
Spinal Cord Gray Matter Imaging in Spinal Muscular Atrophy
An observational study of Spinal Muscular Atrophy Type III and Spinal Muscular Atrophy Type II, run by University Hospital, Basel, Switzerland at 1 site in Switzerland.
Trial summary
This study aims to measure the spinal cord gray matter in patients with spinal muscular atrophy (SMA) type II and III in comparison with age- and sex-matched healthy controls (HC) using rAMIRA (radially sampled averaged magnetization inversion recovery acquisitions) imaging, a novel MRI (Magnetic Resonance Imaging)… Read more about this study
- Who is it for?
- Ages 11 years and olderHealthy volunteers can take part
- Conditions the study is for
- Spinal Muscular Atrophy Type III, Spinal Muscular Atrophy Type II
- What is being tested?
- MRI
- How many people
- 52 participants
- Where
- 1 siteSwitzerland
- Study dates
- 17 Aug 2020to 15 Sep 2025
- 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 11 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients with the diagnosis of 5q-SMA II or III (confirmed by genetic testing) will be recruited. Healthy age and sex-matched controls will also be investigated.
Who may be able to join
- 11 years or older
- Informed consent by the participants or, in children below the age of legal consent, by a legally authorized representative
- genetically confirmed diagnosis of 5q-SMA (Types II or III)
- participants will be selected to be age-and sex-matched to the patients
- 11 years or older
- Informed consent by the participants or, in children below the age of legal consent, by a legally authorized representative
Who cannot join
- active other neurological or neuromuscular condition explaining the symptoms or a significant part of it
- other neurological or neuromuscular conditions interfering with the examinations
- other severe chronic disease
- pregnancy
- general contraindications against MRI scanning (e.g. pacemakers)
- not able to understand the patient information due to language barriers
Show all 14Show fewer
- In the event of a participant incapable of judgment, symptoms showing that the participant is unwilling to participate in the study will result in the participant being excluded from participation
- active neurological or neuromuscular condition
- other neurological or neuromuscular conditions interfering with the examinations
- other severe chronic disease
- pregnancy
- general contraindications against MRI scanning (e.g. pacemakers)
- not able to understand the patient information due to language barriers
- In the event of a participant incapable of judgment, symptoms showing that the participant is unwilling to participate in the study will result in the participant being excluded from participation
Trial locations and contacts
1 site in 1 country.
Switzerland1 site
University Hospital Basel
Basel, Canton of Basel-City, 4031
About this study
Official title: Spinal Cord Gray Matter Imaging - a Novel Biomarker for Spinal Muscular Atrophy - a Pilot Study
This study aims to measure the spinal cord gray matter in patients with spinal muscular atrophy (SMA) type II and III in comparison with age- and sex-matched healthy controls (HC) using rAMIRA (radially sampled averaged magnetization inversion recovery acquisitions) imaging, a novel MRI (Magnetic Resonance Imaging) method. Patient and HC undergo MRI examinations, clinical/neurological (handheld dynamometry) and electrophysiological investigations (MUNIX, Motor Unit Number Index). Serum markers of neuro-axonal and astrocytic injury are also assessed.
Read the detailed description
Patients with the diagnosis of 5q-SMA (spinal muscular atrophy) types II or III (confirmed by genetic testing) will be recruited. Healthy age and sex-matched controls will also be investigated.
Patients will be neurologically investigated at the Neurology Policlinic, University Hospital Basel, including standard muscle force measurements on the British Medical Council (BMC) grade, and quantitative muscle force tests by hand held dynamometer of selected muscles.
All patients will also complete the SMA functional rating scale (SMA-FRS). Age and sex matched healthy controls will also undergo a standardized neurological examination to ensure that no other neurological condition is present that could potentially interfere with the test results.
All participants will be scanned on the same 3 Tesla MR-Scanner (Magnetom PRISMA, Siemens Healthineers) at the University Hospital Basel. The protocol includes axial 2D rAMIRA imaging at selected levels of cervical and thoracic spinal cord at the intervertebral disc levels perpendicular to the spinal cord, and diffusion tensor imaging (DTI) at selected positions, a standard diagnostic high-resolution T2w sequence of the spinal cord and a high-resolution T1w structural imaging of the brain for cortical/subcortical volumetry.
Serum biomarkers will also be evaluated including serum neurofilament light chain (NfL) levels .
MUNIX is an electrophysiological method that is used in clinical routine in many neuromuscular centers to quantitate the number of functioning motor units. Patients and controls will undergo MUNIX testing .
Patients will be examined by a professional physiotherapist to assess the Motor Function Measure (MFM), Revised Hammersmith Scale for SMA, Revised Upper Limb Module, time to rise from the floor, and 6 minutes walk test.
- Being tested
- MRI
- Medical subject headings
- Spinal Muscular Atrophies of Childhood
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MRIDiagnostic test
axial 2D rAMIRA (radially sampled averaged magnetization inversion recovery acquisitions) imaging at selected levels of cervical and thoracic spinal cord at the intervertebral disc levels perpendicular to the spinal cord.
| Study group | Role | What they receive |
|---|---|---|
| Patients with SMA | Patients with SMA type II and III Receives: Diagnostic Test: MRI | |
| Healthy controls | Age- and sex-matched HC Receives: Diagnostic Test: MRI |
What is being measured
The primary outcome is the main question the study is designed to answer.
Spinal cord gray matter atrophy
Difference in spinal cord gray matter (GM) cross-sectional area in mm2 between SMA patients and age and sex matched HC subjects
Measured: baseline
Secondary outcomes (9)
Associations
Cross-sectional associations between spinal cord GM areas (in mm2) and segmental quantitative muscle force (in Newton) in SMA patients
Measured: baseline
Associations
Cross-sectional associations between spinal cord GM areas (in mm2) and SMA-FRS-R Score in SMA patients
Measured: baseline
Associations
Cross-sectional associations between spinal cord GM areas (in mm2) and RULM Score in SMA patients
Measured: baseline
Associations
Cross-sectional associations between spinal cord GM areas (in mm2) and HFSME Score in SMA patients
Measured: baseline
Associations
Cross-sectional associations between spinal cord GM areas (in mm2) and MFM Score in SMA patients
Measured: baseline
Associations
Cross-sectional associations between spinal cord GM areas (in mm2) and serum NfL(pg/ml)
Measured: baseline
Associations
Cross-sectional associations between spinal cord GM areas (in mm2) and MUNIX (Index)
Measured: baseline
Associations
Cross-sectional associations between spinal cord GM areas (in mm2) and 6MWT
Measured: baseline
Associations
Cross-sectional associations between spinal cord GM areas (in mm2) and time to rise from the floor
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Nov 2023
- Study start17 Aug 2020
- Primary completion31 Dec 2024 (estimated)
- Study completion15 Sep 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Spinal Muscular Atrophy Type IIIStudies of the same condition, open and under way.
- More trials run by University Hospital, Basel, SwitzerlandThe 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 52 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Basel, Switzerland
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06137612
- Sponsor's protocol ID
- SMA_SC_Imaging_1
- Status last verified
- Nov 2023
- First submitted
- 8 Nov 2023
- Last updated
- 18 Nov 2023
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Wendebourg MJ, Kesenheimer E, Sander L, Weigel M, Weidensteiner C, Haas T, Madoerin P, Diebold M, Deigendesch N, Neuhaus D, Naumann N, Neuwirth C, Braun N, Weber M, Granziera C, Scheurer E, Lenz C, Schweikert K, Sinnreich M, Lieb J, Bieri O, Schlaeger R. The Lateral Corticospinal Tract Sign: An MRI Marker for Amyotrophic Lateral Sclerosis. Radiology. 2024 Sep;312(3):e231630. doi: 10.1148/radiol.231630.
PubMed 39287519
Study at a glance
From the registry record, last updated by the sponsor on 18 Nov 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Spinal Cord Gray Matter Imaging - a Novel Biomarker for Spinal Muscular Atrophy - a Pilot Study
- ClinicalTrials.gov ID
- NCT06137612
- Acronym / sponsor ID
- SMA_SC_Imaging_1
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 52 participants (estimated)
- Lead sponsor
- University Hospital, Basel, SwitzerlandUniversity, hospital or other
- Study start
- 17 Aug 2020 (actual)
- Primary completion
- 31 Dec 2024 (estimated)
- Study completion
- 15 Sep 2025 (estimated)
- First posted
- 18 Nov 2023 (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 study aims to measure the spinal cord gray matter in patients with spinal muscular atrophy (SMA) type II and III in comparison with age- and sex-matched healthy controls (HC) using rAMIRA (radially sampled averaged magnetization inversion recovery acquisitions) imaging, a novel MRI (Magnetic Resonance Imaging) method. Patient and HC undergo MRI examinations, clinical/neurological (handheld dynamometry) and electrophysiological investigations (MUNIX, Motor Unit Number Index). Serum markers of neuro-axonal and astrocytic injury are also assessed.
Detailed description
Patients with the diagnosis of 5q-SMA (spinal muscular atrophy) types II or III (confirmed by genetic testing) will be recruited. Healthy age and sex-matched controls will also be investigated.
Patients will be neurologically investigated at the Neurology Policlinic, University Hospital Basel, including standard muscle force measurements on the British Medical Council (BMC) grade, and quantitative muscle force tests by hand held dynamometer of selected muscles.
All patients will also complete the SMA functional rating scale (SMA-FRS). Age and sex matched healthy controls will also undergo a standardized neurological examination to ensure that no other neurological condition is present that could potentially interfere with the test results.
All participants will be scanned on the same 3 Tesla MR-Scanner (Magnetom PRISMA, Siemens Healthineers) at the University Hospital Basel. The protocol includes axial 2D rAMIRA imaging at selected levels of cervical and thoracic spinal cord at the intervertebral disc levels perpendicular to the spinal cord, and diffusion tensor imaging (DTI) at selected positions, a standard diagnostic high-resolution T2w sequence of the spinal cord and a high-resolution T1w structural imaging of the brain for cortical/subcortical volumetry.
Serum biomarkers will also be evaluated including serum neurofilament light chain (NfL) levels .
MUNIX is an electrophysiological method that is used in clinical routine in many neuromuscular centers to quantitate the number of functioning motor units. Patients and controls will undergo MUNIX testing .
Patients will be examined by a professional physiotherapist to assess the Motor Function Measure (MFM), Revised Hammersmith Scale for SMA, Revised Upper Limb Module, time to rise from the floor, and 6 minutes walk test.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with SMA | – | Diagnostic Test: MRIPatients with SMA type II and III |
| Healthy controls | – | Diagnostic Test: MRIAge- and sex-matched HC |
Who may qualify
- Ages
- 11 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with the diagnosis of 5q-SMA II or III (confirmed by genetic testing) will be recruited. Healthy age and sex-matched controls will also be investigated.
Key inclusion criteria (6 listed)
- 11 years or older
- Informed consent by the participants or, in children below the age of legal consent, by a legally authorized representative
- genetically confirmed diagnosis of 5q-SMA (Types II or III)
- participants will be selected to be age-and sex-matched to the patients
- 11 years or older
Key exclusion criteria (14 listed)
- active other neurological or neuromuscular condition explaining the symptoms or a significant part of it
- other neurological or neuromuscular conditions interfering with the examinations
- other severe chronic disease
- pregnancy
- general contraindications against MRI scanning (e.g. pacemakers)
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 |
|---|---|---|
| MRIaxial 2D rAMIRA (radially sampled averaged magnetization inversion recovery acquisitions) imaging at selected levels of cervical and thoracic spinal cord at the intervertebral disc levels perpendicular to the spinal cord. | Diagnostic test | Healthy controls, Patients with SMA |
Primary outcome
Spinal cord gray matter atrophy
Time frame: baseline
Difference in spinal cord gray matter (GM) cross-sectional area in mm2 between SMA patients and age and sex matched HC subjects
9 secondary outcomes
Associations
Time frame: baseline
Associations
Time frame: baseline
Associations
Time frame: baseline
Associations
Time frame: baseline
Associations
Time frame: baseline
Associations
Time frame: baseline
Associations
Time frame: baseline
Associations
Time frame: baseline
Associations
Time frame: baseline
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Nov 2023.
- Derived from this study: PubMed 39287519Wendebourg MJ, Kesenheimer E, Sander L, Weigel M, Weidensteiner C, Haas T, Madoerin P, Diebold M, Deigendesch N, Neuhaus D, Naumann N, Neuwirth C, Braun N, Weber M, Granziera C, Scheurer E, Lenz C, Schweikert K, Sinnreich M, Lieb J, Bieri O, Schlaeger R. The Lateral Corticospinal Tract Sign: An MRI Marker for Amyotrophic Lateral Sclerosis. Radiology. 2024 Sep;312(3):e231630. doi: 10.1148/radiol.231630.
- Individual participant dataSharing planned: Undecided
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Spinal Muscular Atrophy Type III and Spinal Muscular Atrophy Type II, run by University Hospital, Basel, Switzerland at 1 site in Switzerland.
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 6 inclusion and 14 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: status not confirmed, as of the sponsor's last update on 18 Nov 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 Switzerland. 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?
Results are not available in the source record.
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?
Spinal cord gray matter atrophy (time frame: baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06137612, which also lists 1 linked publication.
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 18 Nov 2023.