''Dynamic exercise muscle metabolism in Spinal Muscular Atrophy type 3 assessed by 31-Phosphorus Magnetic Resonance Spectroscopy''

Completed

Conditions: Spinal Muscular Atrophy
SMA
10029299
10029317

Registration Number: NL-OMON48961

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

Genetically confirmed diagnosis of SMA type 3/4 OR gender and age matched
healthy controlsAge 12 and olderInformed consent/ parental informed consent
Ability to perform active arm cycling movements in a supine positionAbility to
follow test instructionsSufficient understanding of the Dutch languageM.
Biceps MRC * 4 and M. Triceps MRC * 2

M. Quadriceps MRC * 3 and M. Psoas MRC * 2

Exclusion Criteria

Ineligible to perform an exercise testPregnancy (Other) relevant medical
disorders; i.e. comorbidities affecting exercise tolerance Being under
examination for non-diagnosed disease at the time of investigation
Contra-indications concerning MRS assessmentRisk factors for exercise testing
registered by a Dutch version of the Preparticipation Questionnaire (American
College of Sports Medicine and American heart Association). Possible risk
factors will be discussed with a medical specialist or general practitioner
before a subject can be included
andere vormen

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Changes in high-energy phophate metabolites; in rest, during exercise and<br /><br>during recovery<br /><br>- Adenosine Triphosphate (ATP)<br /><br>- phosphocreatine (PCr)<br /><br>- inorganic Phophate (Pi)<br /><br>- myofiber pH</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Associations between 1) muscle energy metabolism, 2) MRI scans, 3) respiratory<br /><br>gas-exchange, 4) surface Electromyography, 5) Near Infrared Spectroscopy, 6)<br /><br>blood spot samples during rest, incremental supine arm and leg cycling tests<br /><br>and recovery.</p><br>