neuromuscular diseases, muscle diseases
Conditions
Interventions
 
14-week, 3 times weekly supervised PRT. 
The training program will be personalized with respect to training load and 
exercises, guided by individual treatment goals. 
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
2 Years to 64 Years
Inclusion criteria
Inclusion criteria: Genetically confirmed diagnosis of SMN1-related SMA or a genetically confirmed diagnosis of CM.27Age 10-50 years old.Ability to execute a biceps-curl with at least 1 kgFor SMA: on stable treatment prior to inclusion. (i.e. maintenance dose of nusinersen, or >2 months of risdiplam treatment).
Exclusion criteria
Exclusion criteria: Insufficient understanding of the Dutch language.Inability to meet study visits. Experimental treatment that may alter muscle function (eg myostatin inhibitors) and inclusion in sponsor-initiated clinical trials on disease-modifying treatment.Considering adjusting the dose of medication during the study that might affect the motor unit function (e.g. pyridostigmine, salbutamol). Risk 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 exercise physiologist and neurologist before a subject can be included. Medical disorders i.e. comorbidities or being under examination, that prohibit progressive resistance training or could influence the intervention outcome.Surgery affecting training ability < 3-6 months prior to the start of the program, depending on the type of surgical intervention (e.g. scoliosis correction).Pregnancy.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary outcome measure is the difference in elbow flexor strength gain (in Newtons (N) between the training group and control group after completion of the controlled training period. | — |
Secondary
| Measure | Time frame |
|---|---|
| Objective 2 (progressive resistance training + DMT versus usual care + DMT for SMA, progressive resistance training versus usual care for CM) The change in maximal isometric strength of the elbow flexors (Newton) after 14 weeks of progressive resistance trainingObjective 3 (muscle profile)At baseline functional, electrophysiological, morphological and metabolic parameters will be assessed on the basis of which an individual muscle profile is composed: Function (Isokinetic Dynamometry) Isometric muscle strength (Newton, Newton/cm2) of the elbow flexors and elbow extensors Muscle power (watts) defined as average power during 5 isokinetic contractions of the elbow flexors and extensors Muscle endurance (seconds) measured with the dynamic IMPACT ergometer Electrophysiological (High Density surface EMG)HD-EMG: root mean sqsuare (RMS) normalized to muscle activity during maximal isometric contraction, power spectrum analysis (e.g. median frequency (MF)), muscle fiber conduction velocity (MFCV), motor unit characteristics derived after decomposition (e.g. recruitment patterns, motor unit size, conduction velocity, etc.). In addition, time until failure during the 60% of the maximal torque test will be measured.Metabolic (Magnetic Resonance Spectroscopy) high-energy phosphate metabolites including ATP, PCr, Pi, and myofiber pH measured during (A) rest, (B) exercise, and (C) post-exercise. Morphological (Magnetic Resonance Imaging) Muscle MRI: muscle fat fraction, muscle volume, contractile cross-sectional area (cCSA), muscle inflammation, and tissue architecture.Objective 4 (clinical relevance) Goal Attainment Scaling (GAS) (score) on 1-3 personal goalsRevised Upper Limb Score (total score)PROMIS global 02 (R1)PROMIS fatigue SF (total score) PROMIS Upper Extremity SF (total score) Pittsburg Sleep Quality Index (total score) | — |
Countries
Netherlands
Contacts
Public ContactB Bartels
Universitair Medisch Centrum Utrecht
Outcome results
None listed