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

Completed

Conditions: SMA
spinal muscular atrophy
10029317

Registration Number: NL-OMON39588

Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 75

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

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

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

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

Secondary Outcome Measures

Name	Time	Method
<p>Structural and functional changes will be regarded in relation to clinical<br /><br>characteristics (e.g. duration of illness, disease progression), genetic<br /><br>factors and clinical scores.</p><br>