MR Imaging in Spinal Muscular Atrophy; A pilot study to uncover neuronal network changes

MR Imaging in Spinal Muscular Atrophy; A pilot study to uncover neuronal network changes - MR Imaging in SMA

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON39588

Enrollment

Registered

2013-01-30

Start date

2013-03-05

Completion date

Unknown

Last updated

2024-04-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

SMA spinal muscular atrophy

Interventions

None listed

Eligibility

Age

12 Years to 99 Years

Inclusion criteria

Inclusion criteria: 1. a. SMA patients Patients with SMA will be included following the predefined criteria: 1) a diagnosis of SMA type 2 or SMA type 3, diagnosed on clinical grounds and confirmed by homozygous deletion of the SMN1 gene; 2) given oral and written informed consent b. Disease controls with a myopathy Patients with a myopathy will be included following the predefined criteria: 1) a diagnosis of myopathy (e.g. Becker muscular dystrophy, congenital myopathy, congenital myasthenia), diagnosed on clinical grounds and confirmed by muscle biopsy and/or genetic testing and with actual weakness defined of MRC score 1-4 of any limb; 2) given oral and written informed consent c. Healthy control subjects without manifest diagnosis of motor neuron disease or myopathy and given oral and written informed consent 2. Age 12 years upwards 3. Capable of thoroughly understanding the study information given

Exclusion criteria

Exclusion criteria: 1. Tracheostomy, tracheostomal ventilation of any type, (non)-invasive ventilation 2. Any history or presence of brain injury, epilepsy, psychiatric illness and other cerebral disease. 3. Any intoxication or medication known to have an association with motor neuron dysfunction, which might confound or obscure the diagnosis of motor neuron disease. 4. Presence of pronounced swallowing disorders or orthopnoea (which make it dangerous to lie supine in the MRI scanner) 5. Contra-indication for 3 Tesla MRI (as established by the radiology department) 6. Pregnancy 7. 7. Forced Vital Capacity >15% postural change between sitting and supine or symptoms of nocturnal hypoventilation (recurrent morning headaches, nightsweats, orthopneu) 8. Spinal rod fixation with non-MRI compatible material 9. Claustrophobia

Design outcomes

Primary

Measure	Time frame
15 Patients with SMA type 2, 15 patients with SMA type 3 and 30 age-matched healthy controls and 15 age-related disease controls will be recruited for 3T MR imaging of the brain to determine: 1. Cortical morphology with high resolution T1 weighted images (cortical thickness, volume and surface area) (3T); 2. Structural connectivity of motor pathways with DTI and fiber tracking (3T); 3. Brain functional connectivity with resting state-fMRI (3T).	—

Measure

Time frame

15 Patients with SMA type 2, 15 patients with SMA type 3 and 30 age-matched healthy controls and 15 age-related disease controls will be recruited for 3T MR imaging of the brain to determine: 1. Cortical morphology with high resolution T1 weighted images (cortical thickness, volume and surface area) (3T); 2. Structural connectivity of motor pathways with DTI and fiber tracking (3T); 3. Brain functional connectivity with resting state-fMRI (3T).

—

Secondary

Measure	Time frame
Structural and functional changes will be regarded in relation to clinical characteristics (e.g. duration of illness, disease progression), genetic factors and clinical scores.	—

Countries

Netherlands

Outcome results