Spinal Cord Gray Matter Imaging in Spinal Muscular Atrophy

NCT06137612 | Unknown DMC

• 1 other identifier: SMA_SC_Imaging_1
• Study Type: observational
• Target: 52
• Locations: 1 country
• Sites: 1

Brief 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) 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.

Conditions

Spinal Muscular Atrophy Type III; Spinal Muscular Atrophy Type II

Outcome Measures

Primary Outcomes (1)

• 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

  baseline

Secondary Outcomes (9)

• Associations

  baseline

• Associations

  baseline

• Associations

  baseline

• Associations

  baseline

• Associations

  baseline

Study Arms (2)

Patients with SMA

Patients with SMA type II and III

Diagnostic Test: MRI

Healthy controls

Age- and sex-matched HC

Diagnostic Test: MRI

Interventions

MRI DIAGNOSTIC_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.

Healthy controls; Patients with SMA

Eligibility Criteria

• Age: 11 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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)

You may not qualify if:

• 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
• 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
• participants will be selected to be age-and sex-matched to the patients
• years or older
• Informed consent by the participants or, in children below the age of legal consent, by a legally authorized representative
• 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)

Sponsors & Collaborators

• University Hospital, Basel, Switzerland: lead

Study Sites (1)

University Hospital Basel

Basel, Canton of Basel-City, 4031, Switzerland

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood Samples

MeSH Terms

Conditions

Spinal Muscular Atrophies of Childhood

Condition Hierarchy (Ancestors)

Muscular Atrophy, Spinal; Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Motor Neuron Disease; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 8, 2023
• First Posted: November 18, 2023
• Study Start: August 17, 2020
• Primary Completion: December 31, 2024
• Study Completion: September 15, 2025
• Last Updated: November 18, 2023

Record last verified: 2023-11

Locations

CH (1)