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

niversitair Medisch Centrum Utrecht0 个研究点目标入组 75 人开始时间: 待定最近更新: 2024年4月29日

适应症

试验速览

暂无简介。

•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

•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

发起方

niversitair Medisch Centrum Utrecht