Imaging Muscle Performance during ACtion to guide Therapy

Recruiting

Conditions: Spinal Atrophy
Spinal Muscular Atrophy
10029317

Registration Number: NL-OMON55333

Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 30

Inclusion Criteria

Genetically confirmed diagnosis of SMA
All types of SMA
12 years and older
Standardized prescription treatment dosage
Ability and willing to give informed consent/ parental informed consent
Ability to perform active arm exercise movements in a supine position
Ability to follow test instructions
Sufficient understanding of the Dutch language

Exclusion Criteria

Pregnancy
Mental retardation
(Other) relevant medical disorders; i.e. comorbidities affecting exercise
tolerance
Being under examination for non-diagnosed disease at the time of investigation
Contra-indications to MRI examination according to 7T MRI screening guideline
of the UMCU

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main study parameters are differences in the magnitude and rate of changes<br /><br>in the concentrations of phosphocreatine (PCr), inorganic phosphate (Pi) and pH<br /><br>in arm muscles during dynamic exercise of m. biceps and m. triceps and<br /><br>recovery, after two months of pharmacological treatment </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>1) Muscle function (strength, endurance and/or power)<br /><br>2) Motor function (upper extremity, general)<br /><br>3) Patient Reported Outcome Measures<br /><br>a. Questionnaire on physical activity<br /><br>b. Questionnaire on functional status<br /><br>c. Questionnaire on perceived fatigue </p><br>