MR Imaging in Spinal Muscular Atrophy (SMA) as a biomarker for disease progression - MRI as a biomarker in SMA

niversitair Medisch Centrum Utrecht0 个研究点目标入组 63 人开始时间: 待定最近更新: 2024年2月28日

适应症

试验速览

暂无简介。

•1 a. SMA patients
•i. Patients with SMA from the treatment naive cohort will be included following the predefined criteria:
•1) a diagnosis of SMA type 2 or 3, diagnosed on clinical grounds and confirmed by homozygous deletion of the SMN1 gene;
•2) given oral and written informed consent
•ii. Patients with SMA eligible for therapy will be included following the predefined criteria:
•1) a diagnosis of SMA type 1-4, diagnosed on clinical grounds and confirmed by homozygous deletion of the SMN1 gene;
•2) given oral and written consent by:
•- patient and parents or legal guardians when patient is between 12-15 years
•- parents or legal guardians when patient is under 12 years
•iii. Aged 6 years and older
•b. Healthy control subjects without manifest diagnosis of motor neuron disease or myopathy
•i. given oral and written informed consent
•2. Capable of thoroughly understanding the study information given

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

发起方

niversitair Medisch Centrum Utrecht