MR imaging of the spinal cord in patients with spinal muscular atrophy (SMA) and healthy controls

Completed

Conditions: progressive muscle disease
spinal muscular atrophy
10029299
10029317

Registration Number: NL-OMON42601

Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 30

Inclusion Criteria

In order to be eligible to participate in this study, a subject must meet all of the following criteria:
- Age 12 years or older
- Capable of thoroughly understanding the study information given
- Given written informed consent;Additional inclusion criteria for SMA patients:
- A diagnosis of SMA type 2 or 3, diagnosed on clinical grounds and confirmed by homozygous deletion of the SMN1 gene;;Additional inclusion criteria for healthy volunteers:
- Controls are healthy and do not have any history of SMA or other neuropathy related diseases;

Exclusion Criteria

A potential subject who meets any of the following criteria will be excluded from participation in this study:
- Tracheostomy, tracheostomal ventilation of any type, (non)-invasive ventilation
- Presence of pronounced swallowing disorders or orthopnoea (which make it dangerous to lie supine in the MRI scanner)
- Forced Vital Capacity >15% postural change between sitting and supine or symptoms of nocturnal hypoventilation (recurrent morning headaches, nightsweats, orthopneu).
- Contra-indications for MRI (e.g. a pacemaker, claustrophobia, pregnancy)
- Previous trauma or surgery of the (cervical) spine

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main study parameters will be both qualitative in terms of anatomy based on<br /><br>the anatomical MR images, and quantitative in terms of diffusion parameters<br /><br>including the fractional anisotropy, mean diffusivity, axial diffusivity and<br /><br>radial diffusivity. Structural 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>

Secondary Outcome Measures