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

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON42601

Enrollment

Registered

2015-05-13

Start date

2015-08-04

Completion date

Unknown

Last updated

2024-04-23

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

Conditions

progressive muscle disease spinal muscular atrophy

Interventions

None listed

Eligibility

Age

12 Years to 99 Years

Inclusion criteria

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

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

Design outcomes

Primary

Measure	Time frame
The main study parameters will be both qualitative in terms of anatomy based on the anatomical MR images, and quantitative in terms of diffusion parameters including the fractional anisotropy, mean diffusivity, axial diffusivity and radial diffusivity. Structural changes will be regarded in relation to clinical characteristics (e.g. duration of illness, disease progression), genetic factors and clinical scores.	—

Measure

Time frame

The main study parameters will be both qualitative in terms of anatomy based on the anatomical MR images, and quantitative in terms of diffusion parameters including the fractional anisotropy, mean diffusivity, axial diffusivity and radial diffusivity. Structural changes will be regarded in relation to clinical characteristics (e.g. duration of illness, disease progression), genetic factors and clinical scores.

—

Secondary

Measure	Time frame
N/A.	—

Countries

Netherlands

Outcome results